Index

A Acute motor and sensory axonal neuropathy (AMSAN), Abetalipoproteinemia. See Bassen-Kornzweig disease 54, 579–580 Abnormal muscle movements, 8–9 Acute motor axonal neuropathy (AMAN), 54, 579 Abnormal SNAPs, 582 Acute myocardial infarction, CK elevation in, Abnormal temporal dispersion, 608–609 41–42 Abscess. See also Spinal epidural abscess (SEA) Acute necrotizing alcoholic myopathy, 1419 bacterial, 1067 Acute necrotizing myelopathy, PND, 1504 compressive disorders, and LS plexopathy, 1067 Acute neuromuscular weakness perirectal, 1067 clinical presentation, 1523 psoas, 1067 differential diagnosis, 1523–1525 Absolute muscle mass, 42 epidemiology Accessory deep peroneal nerve, 119 critical illness myopathy, 1516–1517 Acetaminophen, 1021 critical illness polyneuropathy, 1516 Acetazolamide, 726 prolonged NMJ blockade, 1517 Acetylcholine receptors (AChR), 28 evaluation and diagnosis kinetic abnormalities, 1119 critical illness myopathy, 1526–1527 mutations, 1116, 1117 critical illness polyneuropathy, 1525–1526 neuromuscular junction disorders, 69–71 laboratory abnormalities, 1527 AChR. See Acetylcholine receptors (AChR) neuromuscular junction blockade, 1527 Acidic-hexosaminidase deficiency, 411 pathology and pathogenesis Acid maltase deficiency, 374 critical illness myopathy, 1518 Acromegaly, endocrine neuropathies, 700 critical illness polyneuropathy, 1517 Acrylamide spectrum, 1515–1516 clinical presentation, 709 treatment, management, and prognosis electrodiagnostic testing, 709 critical illness myopathy, 1528 treatment and management, 709–710 critical illness polyneuropathy, 1528 Action myotonias, 8 general principles, 1527–1528 Action potentials prolonged neuromuscular junction blockade, activation and inactivation gates, 26 1528–1529 depolarizations, 24 Acute nonspecific neck pain, 993 electrical circuit, 24–25 Acute radiculopathy, 951. See also Cervical radiculopathy ions, 23 with neurological deficits, 994 membrane potential, change in, 26 with sensory features, 993–994 origin, 23 Acute ventilatory management, 366–368 Acute ataxic neuropathy, 595 Acyclovir, 1023 Acute autonomic neuropathy, 596 Adrenoleukodystrophy (ALD) Acute axonal degeneration, 239–240 phenotypic heterogeneity, 560, 561 Acute hypokalemic alcoholic myopathy, 1419–1420 zebra bodies, 561 Acute inflammatory demyelinating polyradiculoneuropathy Adrenomyeloneuropathy (AMN) (AIDP), 573–574 phenotypic heterogeneity, 560, 561 Acute intermittent porphyria (AIP), 586 zebra bodies, 561 Acute ischemic mononeuropathy, nonvasculitic ischemic Adult intestinal toxemia botulism, 1067. See also Botulism neuropathy Adult-onset hexosaminidase A deficiency clinical presentation, 832 clinical presentation, 452–453 diagnosis, 833 course, 453 differential diagnosis, 832 diagnosis, 453 etiology, 832 differential diagnosis, 453 evaluation, 832–833 etiology, 452 management, 833 evaluation, 453 pathogenesis, 832 management, 453 prognosis, 833 pathogenesis, 452 treatment, 833 prognosis, 453

B. Katirji et al. (eds.), Neuromuscular Disorders in Clinical Practice, 1555 DOI 10.1007/978-1-4614-6567-6, © Springer Science+Business Media New York 2014 1556 Index

Adult-onset myotonic dystrophy type 1, 1261 AMSAN. See Acute motor and sensory axonal neuropathy (AMSAN) Adult polyglucosan body disease (APBD) Amyotrophic lateral sclerosis (ALS), 996 clinical manifestations, 454 atypical motor neuron disorders, 441, 442, 444, 445, 447–449, course, 455 452–460 diagnosis, 455 characteristics, 395 differential diagnosis, 455 clinical presentation etiology, 454 atypical features, 398–400 evaluation, 455 typical features, 397–398 pathogenesis, 454 clinicoanatomic correlation, 396–397 prognosis, 455 diagnosis treatment, 455 diagnostic algorithm, 405 AECAs. See Anti-endothelial cell antibodies (AECAs) EDX examination, 405–407 AFOs. See Ankle-foot orthoses (AFOs) laboratory testing, 407–408 AIDP. See Acute inflammatory demyelinating neuroimaging, 407 polyradiculoneuropathy (AIDP) differential diagnosis, 410 AIP. See Acute intermittent porphyria (AIP) anterior horn cell, 411–412 Alcoholic cardiomyopathy, 1420 brain, 409 Alcoholic polyneuropathy brainstem and spinal cord, 409–411 vs. chronic alcoholism, 677–678 myopathies, 413 clinical presentation, 679–680 neuromuscular junction disorders, 413 differential diagnosis, 680 neuropathies and plexopathies, 412 EDX features, 680 polyradiculoneuropathies, 412 etiology and pathogenesis polyradiculopathies, 412 animal studies, 679 radiculopathies, 412 multivariate analysis, 678 systemic disease, 413–414 nutritional history, 678 epidemiology, 395–396 thiamine-deficient polyneuropathy, 678–679 etiology, 403–404 toxic etiology, 678 familial, 401–402 treatment, 680 history, 414–415 Alcohol-related myopathy pathogenesis, 403–404 acute hypokalemic myopathy, 1419–1420 pathology, 404 acute necrotizing myopathy, 1419 peripheral nerve disorders, 503 cardiomyopathy, 1420 prognosis, 414–415 chronic myopathy, 1420 treatment ALD. See Adrenoleukodystrophy (ALD) simplified algorithm, 416 Aldolase, 45–46 symptom management, 417–418 Alemtuzumab, 349 trials in, 317–319 Alexander’s disease, 277 western Pacific, 403 Allgrove syndrome, 409–410 Amyotrophic lateral sclerosis functional rating scale (ALSFRS-R), All-or-none response, 23 295–297 Alpha-sarcoglycanopathy, 1241–1242 ANCAs. See Antineutrophil cytoplasmic autoantibodies (ANCAs) ALS. See Amyotrophic lateral sclerosis (ALS) Andersen-Tawil syndrome (ATS) AMAN. See Acute motor axonal neuropathy (AMAN) clinical presentation, 1175–1176 American association of neuromuscular and electrodiagnostic diagnosis, 1176 medicine (AANEM), 620 differential diagnosis, 1176 Aminolevulinic acid (ALA), 557 etiology, 1176 Aminotransferases, 47 evaluation, 1176 Amiodarone, 722 exercise testing, 1176 Amitriptyline, 724 laboratory testing, 1176 Ammoniated mercury, 726 management, 1176–1177 AMN. See Adrenomyeloneuropathy (AMN) pathogenesis, 1176 Amphetamines, 726 prognosis, 1177 Amphiphilic drug myopathy treatment, 1176–1177 amiodarone, 1414 Aneurysms and large vessel disease, 1067 chloroquine, hydroxychloroquine, 1414 Ankle-foot orthoses (AFOs), 329, 539, 1255 differential diagnosis, 1414 Anoctaminopathy, 1244–1245 etiology, 1413 ANS. See Autonomic nervous system (ANS) lysosomes producing vacuolization, 1413 Anterior horn cells, 441, 447–450, 454, 456, 457, 460 membranes causing myofiber necrosis, 1413 Anterior primary rami disorders, 997 NVP-LDE225, 1415 Anterior tarsal tunnel syndrome, 918–919 pathogenesis, 1413 Antibiotics, 1130 prognosis, 1415 Anti-endothelial cell antibodies (AECAs), 738–739 rimmed vacuole myopathies, 1413–1414 Anti-microtubular myopathy Amphiphysin antibodies (amphiphysin Ab), 73 clinical presentation, 1415 Amplification-refractory mutation system colchicine myopathy, predisposing factors for, 1415–1416 (ARMS), 277 differential diagnosis, 1416–1417 Index 1557

drug interactions, 1416 IgG-AAb2 etiology, 1415 GD1b ganglioside, 55 pathogenesis, 1415 glycolipid/carbohydrate antigens, 55 prognosis, 1417 GM1 ganglioside, 54 treatment, 1417 GQ1b/GT1a gangliosides, 54–55 Antineutrophil cytoplasmic antibodies (ANCAs), 55–56, 738 IgG-AAb3, 55–56 Antineutrophil cytoplasmic autoantibodies (ANCAs), 738 IgG-AAb4 Anti-voltage-gated calcium channel antibody, 1093 CRMP5, 56–57 Aortic aneurysms, 1017 Hu antigens, 56

APBD. See Adult polyglucosan body disease (APBD) IgG4-AAb, 57 Appel ALS scale, 297–298 IgM-AAb Array comparative genomic hybridization (aCGH), 282–284 GD1b ganglioside, 59 Arsenic GM1 ganglioside/NS6S, 58 clinical presentation, 705–706 MAG, 58–59 diagnosis, 706 monoclonal proteins, 60–62 evaluation, 706 properties, 57 management, 706 sulfatide, 59–60 pathogenesis, 705 target antigens, 60 treatment, 706 TS-HDS, 59 Arthrogryposis multiplex congenita (AMC) Autoantibody testing causes, 1541–1542 with hyperexcitability disorders CNS developmental defects, 1542 amphiphysin antibodies, 73 connective tissue abnormalities, 1542 GABA-synthesizing enzyme GAD, 73 Arthropods, biological neurotoxins, 1134 potassium channel antibodies, 72–73 Artifacts Stiff person syndrome, 73 nerve biopsy, 239 myositis-overlap antibodies skeletal muscle biopsy, 254 lupus myositis, 76 Asymmetric myopathy, 1199, 1200 mixed connective tissue disease, 75–76 Ataxia-telangiectasia (AT), 568 polymyositis-scleroderma overlap syndrome, 75 ATS. See Andersen-Tawil syndrome (ATS) myositis-specific antibodies Atypical antipsychotics, 1495–1496 anti-Mi-2, 75 Atypical motor neuron disorders anti-p155/140 and anti-MJ (anti-NXP-2), 75 clinical clues, 441–442 anti-signal recognition particle antibodies, 75 definition, 441 antisynthetase autoantibodies, 73–75 HSP neuromuscular junction disorders differential diagnosis, 450–451 AChR antibodies, 69–71 etiology, 450 calcium channel antibodies, 71–72 evaluation, 451 Lambert-Eaton syndrome, 69 genetic subtypes, 451–452 MuSK antibodies, 70–71 pathogenesis, 450 myasthenia gravis, 69 immune-mediated, 442–445 neuronal AChR antibodies, 72 multiple system disorders other autoantibodies, 72 adult-onset hexosaminidase A deficiency, 452–453 striational antibodies, 71 APBD, 454–455 Autogenous nerve grafting, 868 spinocerebellar degenerations, 453–454 Autoimmune neuromuscular diseases, immunotherapy. nonimmune-mediated See Immunotherapy brachial amyotrophic diplegia, 449 Autonomic dysfunction, 589 Fazio-Londe disease and BVVLS, 449–450 Autonomic manifestations, and LEMS, 1091–1092 monomelic amyotrophy, 447–449 Autonomic nervous system (ANS) progressive muscular atrophy and bulbar palsy, 449 anatomy, 202 SMAs, 445–446 bladder, 205 X-linked recessive bulbospinal muscular atrophy, 446–447 cardiovascular system, 204 syndromes DPN, 652–653 electrical injury, 456 gastrointestinal tract, 205 hyperparathyroidism, 459 principles, 201–202 paraneoplastic disorders, 457–459 pupils, 205 post-poliomyelitis, 460 salivary glands, 205 post-radiation motor neuron, 456–457 sweat glands, 204–205 retrovirus, 459–460 Autonomic storms, 1481 toxins and drugs, 459 Autonomic testing Autoantibody autonomic nervous system (ANS) classification, 52 anatomy, 202 IgG-AAb1 bladder, 205 a3-AChRs, 51, 53 cardiovascular system, 204 VGCC, 53 gastrointestinal tract, 205 VGKC, 53 principles, 201–202 1558 Index

Autonomic testing (cont.) Barth syndrome, 1245, 1346–1347 pupils, 205 Bassen-Kornzweig disease, 562–563 salivary glands, 205 Becker muscular dystrophy (BMD), 253, 1207, 1212–1213 sweat glands, 204–205 Bell-shaped chest, 427 cardiovascular autonomic tests Bell’s palsy, 956–957 head-up tilting, 215–216 Benediction posture, 17 HRDB, 211–212 Benign fasciculation syndrome (BFS), 1461 power spectral analysis, 216 Benign neural sheath tumors standing test, 214–215 desmoids, 972 Valsalva maneuver, 212–214 ganglions and epidermoid cysts, 974 cholinergic and adrenergic neurons, 204 hemangiomas and hemangiopericytomas, 973–974 CRPS assessment, 206 lipomas and lipohamartomas, 973 indications, 206 myoblastomas and lymphangiomas, 972–973 in laboratory, 205 myositis ossificans, 972 parasympathetic nervous system (PSNS) neurofibromatosis 1, 971 concepts, 202 neurothekeomas, 972 ganglia and effector organs, 202, 203 plexiform neurofibromas, 971–972 preganglionic and postganglionic, 202 schwannomas plasma catecholamines, 217 incidence, 966 pupillometry operative procedure, 967–969 anatomy, 216 solitary neurofibromas, 969–971 pitfalls, 217 vascular malformations, 974 principles, 216–217 Bent spine syndrome. See Paraspinous myopathies QSART, 206–208 Beta-sarcoglycanopathy, 1242 resting sweat output (RSO), 208 b2-Laminin deficiency, CMS, 1116 Silastic imprint technique, 209 Blister technique, skin biopsy, 261 skin biopsy, 210–211 BMD. See Becker muscular dystrophy (BMD) skin blood flow, 217–218 b-N-oxalylamino-alanine (BOAA), 396 sympathetic nervous system, 203–204 Body ventilators, 334–335 sympathetic skin response (SSR), 209–210 BoNT. See Botulinum neurotoxin (BoNT) thermoregulatory sweat test (TST), 208–209 Borrelia burgdorferi, 1015, 1070 Autosomal dominant HSP, 451 Bortezomib, 719 Autosomal recessive HSP, 451 Botulinum neurotoxin (BoNT), 1101–1103, Axillary neuropathy 1105–1107 anatomy, 893–894 Botulism clinical presentation, 894 adult intestinal toxemia botulism, 1105 differential diagnosis, 895 biological neurotoxins, 1133 EDX studies, 895 clinical presentation, 1102–1104 etiology, 894 electrodiagnostic findings, 1106–1107 management, 895 etiology, 1101–1102 pathogenesis, 894 iatrogenic, 1105–1106 posterior view, quadrilateral space, 894 infant botulism, 1104–1105 prognosis, 895 inhalational, 1106 Axonal regeneration, 241–242 laboratory findings, 1106 Axon-loss fibular lesions, 913 pathogenesis, 1102 Axons, 25 treatment, 1107 Azathioprine (AZA), 1096 wound botulism, 1105 long-term maintenance immunotherapies, 347 Brachial amyotrophic diplegia, 449 and myasthenia gravis, 1083–1085 Brachial plexopathies anatomy, 1029, 1030 cords, 1031–1032 B divisions, 1031 Back kneeling, 6 roots, 1029–1031 Bacterial abscess, 1067 terminal nerves, 1032 Bacterial pyomyositis trunks, 1031 clinical manifestations, 1431–1432 classification diagnosis, 1432 clinicians assessing, 1033 etiology, 1431 supraclavicular plexus, 1032–1033 evaluation, 1432 clinical assessment, 1036–1037 pathogenesis, 1431 CMAP domains, 1039 prognosis, 1432 electrodiagnostic assessment, 1038–1039 treatment, 1432 electrodiagnostic manifestations Bannwarth syndrome, 1015 axon loss, 1034 Bariatric surgery demyelination, 1034–1035 neurological complications, 687 EDX severity assessment, 1036 surgical treatments, 686–687 EDX studies timing, 1035–1036 Index 1559

iatrogenic brachial plexopathies, 1058–1059 Carbonic anhydrases (CA), 47 infraclavicular plexopathies, regional proclivity, 1050–1051 Cardiac manifestations, in neurologic diseases, 369–370 muscle domains, 1039 Cardiomyopathy NCS assessment and DMD, 1212 electrodiagnostic assessment, supraclavicular plexus, 1043 and myopathy, 1199, 1200 infraclavicular plexus, EDX assessment, 1044 Cardiovascular autonomic tests lateral cord, 1043 head-up tilting, 215–216 lower plexus, 1042–1043 practical considerations, 215–216 medial cord, 1043 principles, 215 middle plexus, 1042 HRDB, 211–212 posterior cord, 1043 limitations, 212 practical approach, 1044 physiologic principle, 211 prognostication, 1044–1045 practical considerations, 211–212 terminal nerves, 1044 power spectral analysis, 216 upper plexus, 1042 standing test, 214–215 vs. neighboring structures, 1030 pitfalls, 215 neoplastic plexopathies practical considerations, 215 evaluation, 1055–1056 principles, 214–215 vs. radiation, 1057 Valsalva maneuver, 212–214 pathology and pathophysiology, 1033–1034 pitfalls, 214 proximal elements, 1031 practical considerations, 214 radiation-induced brachial plexopathy, 1056–1057 principles, 212–214 radiologic assessment, 1037–1038 Cardiovascular drugs, 1130–1131 site-nonspecific disorders Carnitine palmitoyltransferase (CPT) deficiency, 85 neoplastic brachial plexopathies, 1052–1053 Carpal tunnel syndrome, 230 neuralgic amyotrophy, 1051–1052 Casting, 329 primary neoplastic brachial plexopathies, 1053–1054 Castleman’s disease, 1506–1507 secondary neoplastic brachial plexopathies, 1054–1055 Cauda equina syndromes, 1008 site-specific disorders, supraclavicular plexopathies Caveolinopathy, 1233–1234 lower plexus, 1046 CellCeptr. See Mycophenolate mofetil (MMF) medial brachial fascial compartment syndrome, 1051 Cell differentiation/proliferation hypothesis, 1286 middle plexus, 1046 Cell membrane antigens vs. IgG-AAb1, 51, 53 obstetric brachial plexopathy, 1049–1050 Central nervous system postmedian sternotomy plexopathy, 1047–1048 and DM, 1265 root avulsions, 1048–1049 and QST, 230–231 sensory fiber pathways, 1039 Central nervous system lability scale (CNS-LS), 299 true neurogenic thoracic outlet syndrome, 1046–1047 Central sensory syndrome (CSS), 482 upper plexus, 1045–1046 Centronuclear myopathies (CNM), 1124 SNAP domains, 1039 Cephalic tetanus, 1481–1482 traumatic brachial plexopathies, 1057–1058 Cerebrospinal fluid (CSF), 14 vascular assessment, 1038 Cerebrotendinous xanthomatosis, 565 British Medical Research Council, 4–5 Cervical radiculopathy Brown-Vialetto-Van Laere (BVVLS) Syndrome, 449–450 acute nonspecific neck pain, 993 Bulbar palsy syndrome, 398, 449 acute radiculopathy Burner syndrome, 1045 with neurological deficits, 994 BVVLS syndrome. See Brown-Vialetto-Van Laere (BVVLS) with sensory features, 993–994 Syndrome anatomy, 981 cervical spine neuroradiology, 992 C surgical management, 995–996 Calcium and vitamin d metabolism, muscle chronic cervical radiculopathy, and chronic neck pain, 994–995 disorders of, 1392–1393 clinical examination, 984–985 Calpainopathy, 1236–1238 clinical localization, 985–986 Calsequestrin, 1189 C5 radiculopathy, 991 Campylobacter jejuni (C. jejuni), 575 C6 radiculopathy, 991 Carbamazepine, 1024 C7 radiculopathy, 991 Carbohydrate moieties, on glycolipids C8 radiculopathy, 991 vs. IgG-AAb2, 54–55 differential diagnosis vs. IgM-AAb, 57–60 acute disorders, 996

Carbon disulfide (CS2) anterior primary rami, disorders of, 997 clinical presentation, 708 chronic disorders, 996–997 diagnosis, 709 electrodiagnosis, 986 evaluation, 709 clinical neurophysiology, 986 management, 709 EMG, 991–992 pathogenesis, 708 needle EMG examination, 988–991 treatment, 709 nerve conduction studies, 986–988 1560 Index

Cervical radiculopathy (cont.) Chronic immune sensory polyradiculopathy (CISP), 610 epidemiology, 982 Chronic inflammatory demyelinating polyneuropathy, 1017 historical features, 981–982 DPN, 659–660 management, 992–993 peripheral nerve disorders, 503 nerve and cord impingement, 983–984 treatment, 351–352 patient history, 984 Chronic inflammatory demyelinating polyradiculoneuropathy polyradiculopathy, 998 clinical criteria, 607–608 causes, 999 clinical presentation, 606–607 compressive polyradiculopathy, 998 CNS demyelination, 610 myelopathy, 999 CSF analysis, 609 polyradiculoneuropathy, 999 diagnosis, 607 risk factors, 982 electrodiagnostic studies, 608–609 spondylosis, pathology of, 982–983 etiology, 606 Cervical spine IgM monoclonal gammopathy and anti-MAG antibodies neuroradiology, 992 clinical features, 617–618 surgical management, 995–996 diagnosis, 618 Cervical spondylosis pathogenesis, 618 ALS, 409 therapy, 618–619 pathophysiology, 982–984 immune therapy response, 610 Chanarin-Dorfman syndrome, 1329 MMN Charcot-Marie-Tooth (CMT) disease, 244 clinical features, 619–620 clinical and genetic subtypes differential diagnosis, 620 CHN, 535 electrodiagnostic features, 620–622 CMT1, 526–527 laboratory findings, 622 CMT2, 532–534 pathogenesis, 622–623 CMT4, 535–537 prevalence, 619 CMT1B, 529–531 therapy, 623 CMT1C and D, 531 without CB and axonal, 623 CMT1E and F, 531 pathogenesis, 606 CMTX, 531–532 prevalence, 605 DI-CMT, 537–538 radiologic studies, 610 DSS, 534–535 sural nerve biopsy, 609–610 GAN, 537 variants HNA, 535 corticosteroids, 614–615 HNPP, 527–529 DADS, 611–612 clinical presentation diabetes mellitus, 612 clinical course, 524 diagnostic evaluation, 613–614 diagnostic evaluation, 524–525 diseases, 612 neuroimaging, 525–526 focal, 611 patient complaints, 522 HIV infection, 613 physical findings, 522–523 IgG and IgA monoclonal gammopathy, 612–613 symptom onset, 522 immunosuppressive / immunomodulating agents, 616 epidemiology, 521 intravenous immunoglobulin, 615–616 historical perspective and classification Lewis-Sumner syndrome, 611 NCVs, 519 malignancies, 613 PMP22, 521 management, 614 management, 538–539 motor, 610–611 subtypes, 520 plasma exchange, 615 Charley horses, 398 sensory, 610 ChAT deficiency. See Choline acetyltransferase (ChAT) treatment, 614, 616–617 deficiency Chronic limb ischemia, nonvasculitic ischemic neuropathies Chemotherapy, 1023 characteristics, 834 Childhood-onset myotonic dystrophy type 1, 1261 EDX and EMG studies, 834 Chloramphenicol, 722 PAD, 834 Chloroquine, 722 treatment, 834–835 Cholestanolosis. See Cerebrotendinous xanthomatosis Chronic musculoskeletal pain Choline acetyltransferase (ChAT) deficiency, 1114–1115 CFS, 1588 Cholinergic hyperactivity hypothesis, NMS, 1489 fibromyalgia, 1586–1587 Cholinesterase inhibitors, and myasthenia gravis, 1082–1083 polymyalgia rheumatica, 1587–1588 Chondromas, 981 Chronic radiculopathy, 952. See also Cervical radiculopathy Chronic acquired neuropathies, 523 Chronic ventilatory management, 368–369 Chronic alcoholic myopathy, 1420 CIP. See Critical illness polyneuropathy (CIP) Chronic axonal degeneration, 240–241 CISP. See Chronic immune sensory polyradiculopathy (CISP) Chronic cervical radiculopathy, and chronic neck pain, Cisplatin 994–995 clinical presentation, 480 Chronic fatigue syndrome (CFS), 1588 diagnosis, 481 Index 1561

etiology, 480 leg, 4 management, 481 proximal, 3–4 pathogenesis, 480 quadriparesis, 10–14 treatment, 481 scapular winging, 17–19 Classic botulism. See Food-borne botulism shoulder pain, 5 Classic TN, 953 Clinical neurophysiology, of radiculopathy, 986 Clevudine, 1417 Clostridium baratii, 1101 Clinical assessment instruments Clostridium botulinum, 587, 1101, 1102, 1104–1106 modified Ashworth scale, 308 Clostridium butyricum, 1101 motor neuron disease CMAP. See Compound muscle action potential (CMAP) ACTS, 299–300 CMS. See Congenital myasthenic syndromes (CMS) ALSFRS-R, 295–297 CMV. See Cytomegalovirus (CMV) Appel ALS scale, 297–298 CNAP. See Compound nerve action potential (CNAP) CNS lability scale, 299 CNM. See Centronuclear myopathies (CNM) Norris ALS scale, 298 Cockayne syndrome (CS), 567 SMAFRS, 299 Colchicine, 724 myasthenia gravis Collapsin response mediator protein 5 (CRMP5), 56–57 activities of daily living score, 303 Collet-Sicard syndrome, 960 MG composite score, 301, 302 Compartment syndromes (CSs), nonvasculitic ischemic neuropathies MSS, 302–303 chronic, 826 myasthenic functional score, 303 clinical presentation, 827 myasthenic muscular score, 302 definition, 825 QMG score, 301 diagnosis, 827–828 myopathy differential diagnosis, 827 IBMFRS, 300 elements, 826 MYOACT, 300–301 etiology, 826–827 myositis intention to treat activities index, 300 evaluation, 827–828 peripheral neuropathy management, 828–829 CMT neuropathy score, 304 pathogenesis, 826–827 INCAT disability scale, 304 prognosis, 829 neuropathy disability scale, 303–304 treatment, 828–829 ONLS, 304 types, 825–826 quality of life scale Complex repetitive discharges (CRDs), 105–106 INQoL, 310 Compound muscle action potential (CMAP), 582, 1064, 1093, 1094 McGill quality of life scale, 316 amplitude, 93 SEIQoL, 315–316 area, 93 short form-12, 310, 313–314 CIDP, 620–622 short form-36, 310–313 conduction velocity, 94 sickness impact profile, 314–315 duration, 93 respiratory scale latency, 93 forced vital capacity, 308–309 motor conduction velocity, 93–94 maximal inspiratory/expiratory pressures, 309 Compound nerve action potential (CNAP), 867–868 slow vital capacity, 309 Compressive disorders, and LS plexopathy tidal volume, 309 abscess, 1067 sensory scales aneurysms and large vessel disease, 1067 CASE IV, 305–307 gluteal compartment syndrome, 1067 nerve conduction studies, 307–308 hemorrhage, 1065 QSART, 307 neoplastic plexopathy, 1065–1066 Clinical manifestations, in neuromuscular disorders pregnancy and labor, 1066 abnormal muscle movements, 8–9 traumatic and postoperative plexopathy, 1066–1067 atrophy, 6 Compressive polyradiculopathy, 998 contracture, 5 Compressive radiculopathy, 412 fatigue, 5–6 Computer aided sensory evaluator system IV (CASE IV), 305–307 gait disorder, 6 Conduction, muscle muscle hypertrophy, 6 action potentials, 26–27 pain and muscle cramps, 7–8 electrical properties, 25 peripheral nerve enlargement, 10 local response, 25 reflexes and tone, 7 peripheral nerve, 27 sensory disturbances, 9–10 Conduction block weakness atypical motor neuron disorders, 441–445, 447–479 disability, 3 CIDP, 608, 609, 611–613, 618–621 distribution, 4 CMT, 525, 530 dropped head, 19–20 dysproteinemic neuropathies, 635, 640, 652, 666–668 foot drop, 14–16 GBS, 573, 579–584, 589, 592, 595 hand atrophy, 17 inherited metabolic neuropathies, 551, 562 hip and shoulder, 4 peripheral nerve disorders, 497, 499, 503 1562 Index

Congenital axonal neuropathy, 433 reducing body and FHL1 myopathies, 1295–1296, 1306 Congenital hypomyelination neuropathy (CHN), 535 types, 1295–1296 Congenital muscular dystrophies (CMD), 253 Congenital myotonic dystrophy type 1, 1260 Congenital myasthenic syndromes (CMS) Connective tissue diseases (CTDs) AChR classification, 734 kinetic abnormalities, 1119 neuropathies mutations, 1116, 1117 autoantibodies, 736 agrin, defects, 1123–1124 cryoglobulinemia, 734–735 b2-Laminin deficiency, 1116 drug toxicity, 735 classification, 1112 entrapment neuropathies, 733 CNM, 1124 ganglionitis, 734 diagnosis immunosuppressive drugs, 735 clinical clues pointing, 1113 inflammatory demyelination, 734 differential diagnosis, 1114 organ system failure, 733 generic diagnosis, 1113 thrombotic vasculopathy, 736 Dok-7 myasthenia, 1122–1123 vasculitis, 733 electron micrograph, 1112 rheumatoid arthritis endplate acetylcholinesterase deficiency, 1115–1116 clinical presentation, 750 endplate ChAT deficiency, 1114–1115 definition, 750 EPP amplitude, 1111 diagnostic criteria, 750–751 fast-channel syndromes, 1119–1121 epidemiology, 750 genetic analysis, 1113–1114 etiology, 750 GFPT1, mutations, 1124 neuropathies, 752–753 Lambert-Eaton myasthenic syndrome, 1115 pathogenesis, 750 MuSK, defects, 1123 prognosis, 751–752 Na channel myasthenia, 1122 treatment, 751–752 plectin deficiency, 1122 vasculitis, 750 primary AChR deficiency Sjögren’s syndrome morphologic studies, 1118 clinical presentation, 753 subunits mutations, 1116, 1118 definition, 753 ultrastructural localization, 1119 diagnosis, 754–755 rapsyn, 1121–1122 epidemiology, 753 slow-channel syndromes, 1119, 1120 etiology, 753 synaptic vesicles paucity, 1115 neuropathies, 755–758 Congenital myopathies pathogenesis, 753 centronuclear myopathy, 1303–1304 prognosis, 755 clinical features, 1304 vasculitis, 754 pathogenesis, 1304–1305 systemic lupus erythematosus pathological features, 1304 clinical presentation, 759–760 congenital fiber-type disproportion definition, 758 clinical features, 1295 differential diagnosis, 760 genetics, 1306 epidemiology, 758 pathological features, 1305–1306 neuropathies, 761–762 congenital muscular dystrophy, 1307–1308 pathogenesis, 758–759 core myopathies prognosis, 760–761 clinical features, 1300–1301 treatment, 760–761 etiology, 1301 vasculitis, 760 genetics, 1301–1302 systemic sclerosis pathogenesis, 1301 clinical presentation, 763–764 pathological features, 1301 diagnostic criteria, 765–766 etiology, 1295–1297 epidemiology, 763 floppy infant etiology, 763 localization scheme, 1297, 1299 evaluation, 765–766 needle EMG, 1300 neuropathies, 767 nonneuromuscular problem, 1297, 1299 pathogenesis, 763 routine laboratory evaluation, 1299 prognosis, 766–767 tone, 1297, 1299–1300 treatment, 766–767 genes with myo fibrillar myopathies, 1295, 1297 vasculitis, 764–765 molecular genetics, 1295, 1298 vasculitic neuropathy nemaline myopathy anti-endothelial cell antibodies, 738–739 clinical features, 1302 antineutrophil cytoplasmic autoantibodies, 738 genetics, 1303 circulating immune complexes, 738 pathological features, 1302–1303 classification, 737 pathogenesis, 1295–1297 clinical features, 743 prognosis, 1308 cytotoxic T lymphocytes, 739 protein aggregation, 1295, 1297, 1306–1307 definite active, pathologic diagnosis, 746 Index 1563

delayed-type hypersensitivity, 739 Creatine kinase (CK), 14 differential diagnosis, multifocal/asymmetric neuropathy, acute myocardial infarction and muscle disease, 41–42 743, 745 clinical biochemistry, 40 electrodiagnostic and laboratory features, 743 clinical value, 40–41 eosinophils, 739 drug toxicity/nutritional deficiency, 44 epidemiological studies, 736–737 elevation, 41 immunosuppressive therapy, 747–748 hyperCKemia after physical exercise, 41 immunosuppressive treatment, 748–749 idiopathic hyperCKemia, 44–45 large-vessel primary systemic vasculitides, 740 isoenzymes, 40 nerve biopsy, 746–747 and myopathy, 42–43, 1204 nonsystemic vasculitic neuropathy, 740, 743 neurogenic disorders, elevation in, 43 pathogenesis, 739–740 principles, 39–40 pathogenic mechanisms, 738 secondary muscle disorders, elevation in, 43 pathologic features, 745–746 Cricopharyngeal myotomy, 1281 primary systemic vasculitides, pathogenesis, 737–738 Critical care prognosis, 749 approach in NMD, 365–366 secondary systemic vasculitides, 740 electrodiagnostic testing, 370 small-and medium-vessel primary systemic vasculitides, 740 plasmapheresis and intravenous immunoglobulin, 371 supportive care, 749 principles, 363 treatment, 747 Critical illness myopathy, 251–252 vasculitides classification, 736 neuromuscular weakness Contraction fasciculations, 8 diagnosis, 1526–1527 Contraction regulation, skeletal muscle, 33 epidemiology, 1516–1517 Contracture, 5 evaluation, 1526–1527 Conventional NCS. See Nerve conduction studies (NCS) management, 1528 Copper deficiency, 685–686 pathology and pathogenesis, 1518 Cord impingement. See Nerve and cord impingement prognosis, 1528 Corticosteroid-induced muscle atrophy treatment, 1528 clinical presentation, 1411–1412 Critical illness polyneuropathy (CIP), 587, 1516 differential diagnosis, 1412 neuromuscular weakness etiology, 1411 diagnosis, 1525–1526 evaluation, 1412 epidemiology, 1516 pathogenesis, 1411 evaluation, 1525–1526 prognosis, 1412–1413 management, 1528 steroid myopathy, 1411 pathology and pathogenesis, 1517 treatment, 1412–1413 prognosis, 1528 Corticosteroids, 591 CRMP5. See Collapsin response mediator protein 5 (CRMP5) adverse effects, 344–345 Crow-Fukase syndromes, 60–61 CIDP, 614–615 Cryoglobulinemia, 61–62 intravenous steroid therapy, 345 Cryoglobulins, 734–735 steroid myopathy, 345 CSF. See Cerebrospinal fluid (CSF) Corynebacterium diphtheria, 587 CSS. See Central sensory syndrome (CSS) Costameres, 29 CTDs. See Connective tissue diseases (CTDs) Cough peak flows (CPF), 332, 333 Curtain sign, 5–6 Cramp-fasciculation syndrome (CFS), 414, 1461 Cyclophosphamide Cramp potentials, 107, 108 long-term maintenance immunotherapies, 348 Cranial nerve palsies and myasthenia gravis, 1085 facial nerve Cyclosporine, 1096 Bell’s palsy, 956–957 long-term maintenance immunotherapies, 348 bilateral facial palsy, 957 and myasthenia gravis, 1084 congenital disorders, 957 Cysticercosis neuroanatomy, 955–956 diagnosis, 1438 glossopharyngeal nerve etiology, 1437–1438 glomus jugulare tumors, 958 evaluation, 1438 glossopharyngeal neuralgia, 957–958 muscle involvement, 1438 neuroanatomy, 957 pathogenesis, 1437–1438 hypoglossal nerve, 961, 962 prognosis, 1438 spinal accessory nerve treatment, 1438 clinical syndromes, 959 Cytomegalovirus (CMV), 575 jugular foramen, 959–961 Cytotoxic T lymphocytes, 739 neuroanatomy, 959 trigeminal nerve (see Trigeminal nerve (TN)) vagus nerve, 958–959 D Cranial neuropathies, DPN Danon’s disease, 1247 idiopathic facial neuropathy, 665 Dantrolene, 1191 ocular motor mononeuropathies, 664–665 Dapsone, 726 1564 Index

Daytime inspiratory muscle aids, 334–335 mononeuropathies and radiculopathies Deep peroneal mononeuropathy, fibular neck cranial neuropathies, 664–665 clinical manifestations, 916 limb mononeuropathies, 666 differential diagnosis, 916 truncal radiculoneuropathies, 665–666 etiology and pathogenesis, 915–916 motor neuropathy, 660 evaluation and diagnosis, 916–917 neurologic examination, 649–650 management, 917 neuropathology, 651 prognosis, 917 pathogenesis, 653–654 treatment, 917 patient evaluation, 656–657 Deep tendon reflexes (DTRs), 7, 11 patient management Definite ALS, 405 autonomic symptoms, 659 Degenerative spine disease general considerations, 657 etiology neuropathic pain, 658–659 lumbosacral disc herniation, 1009–1011 prevent axon loss, therapy, 657 lumbosacral spondylosis, 1011–1012 predominantly autonomic neuropathy, 650 spinal stenosis, 1011–1012 predominantly large-fiber sensory symptoms, 650 thoracic disc herniation, 1012 predominantly small fiber-type sensory symptoms, 650 thoracic spondylosis, 1012 proximal motor neuropathy management and prognosis Bruns-Garland syndrome, 661 lumbar spinal stenosis, 1022 clinical presentation, 662 lumbosacral disc herniation, 1021–1022 etiology, 661 thoracic disc herniation, 1022 evaluation and diagnosis, 662–663 thoracic spondylosis, 1022 management, 663 Delayed rectifiers, 24 pathogenesis, 661 Deletion testing, DNA mutation, 280 prognosis, 663–664 Delta-sarcoglycanopathy, 1242 treatment, 663 Demyelinating polyneuropathy, 1017 symptoms, 648–649 Demyelination, 242–244 Diabetic radiculopathy Denaturing high-pressure liquid chromatography etiology, 1016 (DHPLC), 279 management, 1024 Denervation and reinnervation, of skeletal muscle, 256, 257 prognosis, 1024 Dermatomyositis, 356–357 Diabetic radiculoplexus neuropathy, 1016 Desminopathy, 1234–1235 Didanosine (ddI), 720, 721 Desmoids, 972 Diffuse fasciitis with eosinophilia (DFE). See Eosinophilic fasciitis Diabetes mellitus, 612 Dilated cardiomyopathy 1N, 1242–1243 Diabetic amyotrophy, 1016, 1067–1068 Direct nerve trauma, 906 Diabetic lumbosacral radiculoplexus neuropathy Distal acquired demyelinating symmetric (DADS) neuropathy, (DLRPN), 832 611–612 Diabetic neuropathy. See Diabetic polyneuropathy (DPN) Distal anterior dysferlinopathy, 120 Diabetic polyneuropathy (DPN) Distal latency slowing, 581 ANS testing, 652–653 Distal limb muscles atrophy, 522–523 asymptomatic DPN, 650 Distal myopathy, 1199, 1200 CIDP, 659–660 Distal spinal muscular atrophies, 435 classification, 648 Distal sural nerve clinical neurophysiology biopsy, 235 (see also Peripheral nerve biopsy) EDX evaluation, 651–652 electron microscopy, 238 electrophysiologic testing, 652 morphometric analysis, 237 NCV, 652 morphometry, 238 needle EMG, 652 Distal symmetrical polyneuropathy (DSP), 845–846 clinical trials Disulfiram, 725 AGE inhibitor, 656 DLRPN. See Diabetic lumbosacral radiculoplexus neuropathy diagnostic criteria, 654 (DLRPN) measurement, 654–656 DM. See Myotonic dystrophy (DM) myoinositol deficiency, 656 DM1. See Dystrophia myotonica type 1 (DM1) proinsulin C-peptide, 656 DM2. See Dystrophia myotonica type 2 (DM2) recombinant human nerve growth factor DMD. See Duchenne muscular dystrophy (DMD) (rhNGF), 656 DMD/BMD diagnosis, algorithm for definition, 647 clear phenotype, familial/sporadic cases with, 1218 diabetes mellitus overview, 647 dystrophinopathy, females with, 1219–1220 diagnosis, 647–648 genetic counselling, 1220 focal nerve compression, mononeuropathies unclear phenotype, sporadic cases with, 1218–1219 carpal tunnel syndrome, 667 Docetaxel, 718 lateral femoral cutaneous neuropathy, 668 Dok-7 myasthenia, 1122–1123 peroneal neuropathy, 668 Dominant forms, of LGMD, 1232 ulnar neuropathy, 667 Dominant intermediate CMT (DI-CMT), 537–538 glycemic control change, 650–651 Dopamine-blockade hypothesis, 1489 Index 1565

Dorsal rhizotomy, 1025 Dysferlin, 1238 Dorsal root ganglion (DRG), 986, 1001 Dysferlinopathy, 1238–1239 anatomy, 468–469 Dysphagia, treatment of, 1281 cisplatin Dysproteinemic neuropathies clinical presentation, 480 epidemiology and pathogenesis diagnosis, 481 hematologic diagnosis, 633 etiology, 480 PCD classification, 633, 634 management, 481 miscellaneous syndromes pathogenesis, 480 cryoglobulinemia, 641–642 treatment, 481 lymphoma and leukemia, 642 CSS, 482 WM, 641 development, 468 polyneuropathy syndromes differential diagnosis IgG and IgA, 636–637 deficiency syndromes, 483–484 IgM monoclonal gammopathy, 634–636 sensory polyneuropathies, 482 MGUS, 634 sensory symptoms, 483 MM, 639 disorders OSM and, 639–640 MISP, 471–476 peripheral, 639 NISP, 476–480 PSA and AL, 637–638 historical perspective, 467–468 systemic features, 640–641 neurochemistry, 469–470 Dystroglycanopathies, 253 neurophysiology, 470 Dystrophia myotonica type 1 (DM1), 1259–1260 pyridoxine abuse Dystrophia myotonica type 2 (DM2), 1260 clinical presentation, 481–482 Dystrophin, 1207–1208 diagnosis, 482 gene mutations, 1209–1210 etiology, 481 isoforms, 1209 management, 482 Dystrophin-associated protein complex, 1208–1209 pathogenesis, 481 Dystrophin gene-associated dilated cardiomyopathy, 1213–1214 treatment, 482 Dystrophin immunostaining, and dystrophinopathy, 1216–1218 Dorsal root ganglionectomy, 1025 Dystrophinopathy, 1207 Doxycycline, 1024 clinical features, 1211 DPN. See Diabetic polyneuropathy (DPN) clinical presentation DRG. See Dorsal root ganglion (DRG) BMD, 1212–1213 Dropped head syndrome. See Paraspinous myopathies DMD, 1210–1212 Drug-induced catatonia, NMS, 1492 DMD/BMD carrier females, manifestion of, 1214 Drug-induced parkinsonism, NMS, 1492 dystrophin gene-associated dilated cardiomyopathy, Drug-induced toxic neuropathies 1213–1214 amiodarone neuropathy, 723, 725 differential diagnosis, 1214–1215 antimicrobial agents, 720–722 dystrophin, 1207–1208 antiretroviral agents, 720 dystrophin-associated protein complex, 1208–1209 antituberculous agents, 720 dystrophin gene mutations, 1209–1210 cardiovascular agents, 722 in females, 1210 chemotherapeutic agents genetic features, 1211 taxol-induced neuropathy, 718 germline mosaicism, 1210 vincristine-induced neurofibrillary tangle, 716, 717 laboratory features and diagnosis, 1211, 1215 clinical presentations, 715 DMD/BMD diagnosis, algorithm for, 1218–1220 ddI neuropathy, 721 EMG, 1216 immunosuppressants, 723–724 molecular genetic testing, 1216 lipid-lowering agents, 722 muscle biopsy, 1216–1218 miscellaneous agents, 725–726 serum muscle enzymes, 1216 neurologic/psychiatric agents, 724 pathogenesis, 1210 pathophysiology, 716 pharmacologic treatment, 1222 principal types, 716 supportive treatment, 1220–1222 rheumatologic agents, 724–725 therapies Drug-potentiating GABA-ergic transmission, SMS, 1474 exon skipping, 1223 Drug toxicity/nutritional deficiency, and CK, 44 gene replacement, 1222–1223 DSP. See Distal symmetrical polyneuropathy (DSP) muscle growth products, 1223–1224 DTRs. See Deep tendon reflexes (DTRs) mutation suppression, 1223 Duchenne muscular dystrophy, 253 hip, knee and ankle musculotendinous contractures, in children, 328 E mouthpiece NIV, 335 Edible mushrooms, 1421 ventilator dependent patient, 332 EDMD. See Emery-Dreifuss muscular dystrophy (EDMD) Duchenne muscular dystrophy (DMD), 1207, 1210–1212 Ehlers-Danlos syndrome, FIS, 1541 Dynamic stimuli, 224–225 Electrical injury, 456 Dysautonomia, 578 Electrocardiogram (EKG), 14 1566 Index

Electrodiagnosis, of radiculopathy. See Cervical radiculopathy pathogenesis, 1285–1286 Electrodiagnostic (EDX) studies, 14, 387 prognosis, 1291 abnormal parameters treatment, 1290–1291 CMAPs, 582 Emetine, 1420–1421 distal latency slowing, 581 EMS. See Eosinophilia-myalgia syndrome (EMS) F-waves, 580 Endocrine H-reflex, 580 and DM, 1265 motor conduction blocks, 580–581 myopathies multiple and complex A-waves, 580 calcium and vitamin D metabolism, needle EMG, 582 1392–1393 nerve conduction velocities slowing, 581 glucocorticoid abnormalities, 1379–1386 SNAPs, 582 metabolic bone disease, 1393–1395 ALS, 405–407 pituitary dysfunction, 1390–1392 common fibular mononeuropathy, fibular neck, 908–914 thyroid disease, 1386–1390 criteria, 582–583 neuropathies intensive care, 370–371 acromegaly, 700 lumbosacral and thoracic radiculopathies, 1018 hepatic neuropathy, 697–698 prognosis, 583–584 hyperthyroid neuropathy, 699–700 Electromyography (EMG), 991–954. See also Cervical hypothyroidism, 698–699 radiculopathy metabolic neuropathies characteristics, 694 anterior horn cell disease, 148 uremic neuropathy, 693–697 central nervous system disorders, 150 Endplate acetylcholinesterase deficiency, 1115–1116 disease progression, 91 End-plate potential (EPP), 29 and dystrophinopathy, 1216 Entrapment neuropathy focal neuropathic lesions axillary neuropathy, 893–895 axonal loss lesions, 142–144 long thoracic neuropathy, 897–898 demyelinating lesions, 144–145 median neuropathy, 871–877 localizing mononeuropathy, 145 musculocutaneous neuropathy, 895–897 nonlocalizing mononeuropathy, 145 proximal median neuropathy, 877–880 polyradiculopathy, 146 radial neuropathy, 886–891 radiculopathy, 145–146 spinal accessory neuropathy, 898–900 history and physical examination, 91 suprascapular neuropathy, 891–893 illness severity and prognosis, 91 ulnar neuropathy (see also Ulnar neuropathy) lesion localization, 90 elbow, 880–884 and LGMD 2A, 1237 wrist, 884–886 and LGMD 2B, 1238 Envenomation, biological neurotoxins, 1133–1134 myopathies, 148 Enzymes, 39 and myopathy, 1204 Eosinophilia-myalgia syndrome (EMS) needle electromyography (see Needle electromyography (EMG)) cardiac autopsy specimens, 1563–1564 nerve conduction studies (see Nerve conduction studies (NCS)) differential diagnosis, 1564 vs. neuroimaging, 1020–1021 epidemiological studies, 1561 neuromuscular junction disorders, 148, 150 etiologic agent, 1562 pathophysiology, 90 evaluation and diagnosis, 1564–1565 polyneuropathy fibrosis with tissue eosinophilia, 1562–1563 asymmetric axonal polyneuropathy, 147 gastrointestinal abnormalities, 1564 demyelinating polyneuropathy, 147–148 impurities, 1562 symmetric axonal polyneuropathy, 146–147 inflammation and fibrosis, 1562 principles and indications, 90 natural course, 1565 repetitive nerve stimulation (see Repetitive nerve stimulation neuromuscular involvement, 1563 (RNS)) prognosis, 1565 Electrophysiological patterns, of fibular mononeuropathies, 912 pulmonary symptoms, 1563 Emery-Dreifuss muscular dystrophy 1, 1246–1247 skin, 1563 Emery-Dreifuss muscular dystrophy 2, 1233 treatment, 1565 Emery-Dreifuss muscular dystrophy 6, 1247 Eosinophilic fasciitis Emery-Dreifuss muscular dystrophy (EDMD), 1215 diagnosis, 1569 differential diagnosis, 1289 differential diagnosis, 1568–1569 etiology, 1285 etiology, 1568 evaluation and diagnosis evaluation, 1569 genetics, 1290 fatigue and fever, 1568 laboratory studies, 1289 impaired mobility, 1567 muscle imaging, 1289–1290 neuromuscular symptom, 1568 management, 1290–1291 pathogenesis, 1568 myopathy and contractures prognosis, 1569 muscle wasting, 1287 skin and fascia, 1568 scoliosis, 1287 treatment, 1569 spine, elbow, and ankle, 1286–1288 weight loss, 1568 Index 1567

Eosinophils, 739 molecular diagnosis, 1255 Epidermoid cysts, 974 molecular mechanisms, 1252 Epidural anesthesia, complications of, 1016 pathogenesis, 1251 Epidural metastases, neoplastic disease prognosis, 1256 etiology, 1012–1013 symptomatic restrictive respiratory insufficiency, 1254 management, 1023 therapeutic trials, 1256 prognosis, 1023 treatment, 1255–1256 Epidural spinal hematomas, 1017 in women, 1256 Episodic ataxia with myokymia, 1451 F-actin, 33 EPP. See End-plate potential (EPP) Famciclovir, 1023 Epsilon-aminocaproic acid, 1421 Familial ALS, 401–402 Essential congenital hypotonia, 1541 Familial amyloid polyneuropathies (FAPs), 244–245 Ethambutol, 720 epidemiology, 550 Etretinate, 726 phenotypes classification, 549–551 European federation of neurological sciences (EFNS), 607, 608, 620 Familial cardiomyopathy with conduction deficit, 1234–1235 Excitable cells FAP. See Familial amyloid polyneuropathies (FAPs) action potentials Fasciculations, 8 activation and inactivation gates, 26 benign vs. malignant, 1460 depolarizations, 24 BFS, 1461 electrical circuit, 24–25 CFS, 1461 ions, 23 definition, 1460 membrane potential, change in, 26 morphology, 1461 origin, 23 Fasciitis disorders conduction DFE (see Eosinophilic fasciitis) action potentials, 26–27 EMS (see Eosinophilia-myalgia syndrome (EMS)) electrical properties, 25 TOS (see Toxic oil syndrome (TOS)) local response, 25 types, 1561 peripheral nerve, 27 Fast-channel syndromes, CMS, 1119–1121 membrane potential, 22–23 Fast-twitch (type II) myofibers, 247, 249 plasma membrane, 21–22 Fatigue Excitation-contraction coupling (E-C coupling), 29, 251, 252 muscle, 5–6 Excitotoxicity, 403 and myopathy, 1198 Exonic splice enhancer/silencer, 429 Fazio-Londe disease, 449–450 Exon skipping, and dystrophinopathy , 1223 Femoral nerve Extraocular muscles anatomy, 933 and myopathy, 1199 femoral mononeuropathy weakness, 11 clinical presentation, 935 Extremity exercise, 330 differential diagnosis, 935 Extremity weakness, and LEMS, 1091 etiology and pathogenesis, 933–935 Eye, and DM, 1264 evaluation and diagnosis, 935–936 Eye movement muscles, and myopathy, 1199 management, 936 prognosis, 936 treatment, 936 F saphenous mononeuropathy, 937 Fabry’s disease Fibromyalgia, 1586–1587 bathing trunk, 563–564 Fibular (peroneal) nerve clinical features, 563–564 anatomy, 903–904 enzyme replacement therapy, 565 common fibular mononeuropathy, fibular neck a-galactosidase-A (GLA), 563, 565 clinical presentation, 907–908 Facet joints, 981, 983 differential diagnosis, 908 Facial diplegia, 596, 957 EDX, 908–914 Facial muscles, and myopathy, 1199, 1200 etiology and pathogenesis, 904–907 Facial myokymia, 1450 imaging studies, 914–915 Facial nerve management, 915 Bell’s palsy, 956–957 prognosis, 915 bilateral facial palsy, 957 common fibular mononeuropathy, hip, 917–918 congenital disorders, 957 deep fibular mononeuropathy, at ankle, 918–919 neuroanatomy, 955–956 deep peroneal mononeuropathy, fibular neck Facioscapulohumeral muscular dystrophy (FSHD) clinical manifestations, 916 clinical diagnosis, 1254–1255 differential diagnosis, 916 clinical presentation, 1251–1253 etiology and pathogenesis, 915–916 differential diagnosis, 1254 evaluation and diagnosis, 916–917 etiology, 1251 management, 917 extramuscular manifestations, 1253–1254 prognosis, 917 infantile FSHD, 1256 treatment, 917 management, 1255 superficial fibular mononeuropathy, 919 1568 Index

FIS. See Floppy infant syndrome (FIS) Four-A syndrome, 409–410 Flail arm syndrome. See Brachial amyotrophic diplegia Frog-leg position, 427 Flail-leg syndrome, 401 Frostbite, nonvasculitic ischemic neuropathies Flecainide, 1271 clinical features, 835 Floppy head syndrome. See Paraspinous myopathies definition, 835 Floppy infant syndrome (FIS), 7 optimal treatment, 835–836 acute central nervous system diseases, 1533 pathogenesis, 835 AMC, 1541–1542 FSHD. See Facioscapulohumeral muscular dystrophy benign congenital hypotonia, 1541 (FSHD) causes, 1533, 1535 Fukutinopathy, 1245, 1246 chronic central nervous system diseases, Fukutin-related proteinopathy, 1244 1535–1536 Functional scores differential diagnosis algorithm, 1533, 1535 Barthel index, 292–293 infantile spinal muscular atrophy, 1533–1534 6-min walk test, 294 Marfan syndrome, 1541 motor club assessment, 294 myopathies Rankin scale, 293 congenital muscular dystrophies, 1541 timed get-up and go test, 293–294 congenital myotonic dystrophy, 1540 trunk control test, 294 diagnostic approach algorithm, motor unit Fungal myositis, 1432–1433 disorders, 1539 metabolic myopathies, 1540 muscle biopsy, 1539–1540 G NMJ disorders, 1536, 1538–1539 Gabapentin, 1024, 1025 peripheral neuropathies, 1536–1538 Gait disorder, 6 systemic disorders, 1541 GalNAc-GD1a gangliosides, 60 upper and lower motor neuron causes, Gamma-sarcoglycanopathy, 1239–1241 1533, 1535 Ganglionic (a3) acetylcholine receptors (AChRs) vs. IgG, Focal myokymia, 1450 51, 53 Focal myonecrosis, 1421 Ganglions, 974 Focal peripheral neuropathy, QST, 230 Ganglioside Food-borne botulism. See also Botulism vs. IgG-AAb2 autonomic dysfunction, 1103 GD1b, 55 clinical course, 1103 GM1, 54 differential diagnosis, 1103 GQ1b/GT1a, 54–55 electrophysiological studies, 1103–1104 vs. IgM-AAb, 57–60 occurrence, 1102–1103 Gastrointestinal tract, and DM, 1266 Foot drop, 329 GBS. See Guillain-Barré syndrome (GBS) causes, 15 GD1b ganglioside, 55 definition, 14 Gender, and DM, 1267 differential diagnosis, 16 Gene expression hypothesis, 1286 peroneal neuropathy/L5 radiculopathy, 15–16 Generalized peripheral polyneuropathy, QST, sciatic neuropathy, 16 229–230 Forced-choice technique, 225, 226 Generalized tetanus, 1481 Forearm exercise test Gene replacement, and dystrophinopathy, 1222–1223 abnormal patterns, 81–82 Genetic Information Nondiscrimination Act (GINA), 273 complications, 85–86 Genetic testing indications, 81 array comparative genomic hybridization, 282–284 metabolic myopathies consent forms for, 274–275 acid maltase deficiency, 85 and DM, 1270–1271 beta-enolase deficiency, 84 DNA mutation and detection brancher deficiency, 85 complex genetics, 278–279 CPT deficiency, 85 cytogenetics, 276 debrancher deficiency, 85 deletion testing, 280 glycogen synthase deficiency, 84 dominant inheritance, 276–278 lactate transporter defect, 85 methods, 279–280 LDH deficiency, 85 recessive inheritance, 278 myoadenylate deaminase deficiency, 85 small and point mutation testing, 280–282 myophosphorylase deficiency, 82 genetic information, use of, 273–274 phosphofructokinase deficiency, 82–84 and myopathy, 1205–1206 phosphoglucomutase deficiency, 84 patient confidentiality, 274 phosphoglycerate kinase deficiency, 84 Web-based resources, 271–273 phosphoglycerate mutase deficiency, 84 Genitofemoral nerve, 940–941 phosphorylase kinase deficiency, 84 Genotype-phenotype correlation, and DM, 1269 modified tests, 86 Germline mosaicism, 1210 normal patterns, 81 Giant axonal neuropathy (GAN), 537 principles, 79–80 Globoid-cell leukodystrophy, 560 procedure, 80–81 Glomus jugulare tumors, 958 Index 1569

Glossopharyngeal breathing, 337 etiology Glossopharyngeal nerve antecedent illnesses, 574 glomus jugulare tumors, 958 C. jejuni, 575 glossopharyngeal neuralgia, 957–958 M. pneumoniae, 575 neuroanatomy, 957 evaluation and diagnosis Glucocorticoid abnormalities, muscle disorders with antiganglioside antibodies, 584 adrenal insufficiency CSF studies, 584 clinical presentations, 1384–1385 EDX studies, 580–584 differential diagnosis, 1385 laboratory studies, 584–585 evaluation and diagnosis, 1385 MRI, 584, 585 pathology, 1384 management treatment and prognosis, 1385–1386 immunotherapy, 590–592 glucocorticoid excess supportive care, 588–590 clinical presentations, 1381–1382 neuromuscular junction disorders, 587 differential diagnosis, 1382 pathogenesis evaluation and diagnosis, 1382–1383 AMAN, 576, 577 physiology and pathology, 1379–1381 molecular mimicry, 576 treatment and prognosis, 1383–1384 prognosis Glucocorticoids, and myasthenia disability score, 592 gravis, 1083 MRC, 592, 593 a-Glucosidase (GAA) deficiency subtypes clinical presentation, 1325–1326 AIDP and AMAN, 579 diagnosis, 1326 AMSAN, 579–580 differential diagnosis, 1326 syndrome variants etiology, 1325 acute autonomic neuropathy, 596 evaluation, 1326 ataxic, 595 lysosomal enzyme, 1324 facial diplegia, 596 pathogenesis, 1325 Miller Fisher, 594–595 treatment and management, 1326–1327 multiple cranial neuropathy, 595 Gluteal compartment syndrome, 1067 paraparetic variant, 596 Gluteal nerve, 942–943 pharyngeal-cervical-brachial, 595 Glycolipid/carbohydrate antigens, 55 treatment, 350–351, 588–592 GM1 ganglioside, 54 Goldman-Hodgkin-Katz equation, 23 Gottron’s papules, 1356 H GQ1b/GT1a gangliosides, 54–55 Hand-arm vibration syndrome (HAVS) Granulomatous myopathy components, 836 sarcoidosis diagnosis, 837 clinical manifestations, 1433 finger biopsies, 836 diagnosis and evaluation, 1433–1434 mechanoreceptors types, 836–837 treatment, 1434–1435 treatment, 837 tuberculous myositis, 1433 vibration tools, 836 Granulomatous peripheral neuropathies Hand atrophy, 17 herpes zoster neuropathy, 852–853 Haploinsufficiency, 278 HIV-associated neuropathies, 841–849 HAVS. See Hand-arm vibration syndrome (HAVS) infectious neuropathies, 853–854 HCP. See Hereditary coproporphyria (HCP) leprous neuropathy, 849–851 Heart, and DM, 1264–1265 lyme neuropathy, 851–852 Heat and exercise cramps, 1458–1459 non-HIV-associated infectious, 842 Hemangiomas, 973–974 sarcoid neuropathy, 854–855 Hemangiopericytomas, 974 Grip myotonia, 8 Heme biosynthesis pathway, 556 Guillain-Barré syndrome (GBS), 1017, 1103, 1537 Hemorrhage, and LS plexopathy, 1065 acute peripheral neuropathies and poliomyelitis Hepatic neuropathy, endocrine neuropathies, 697–698 AIP, 586 Hereditary coproporphyria (HCP), 555, 557 CIP, 587 Hereditary motor and sensory neuropathy (HMSN). Corynebacterium diphtheria, 587 See Charcot-Marie-Tooth (CMT) disease AIDP, 573–574 Hereditary motor and sensory neuropathy type I (HMSN I), 1017 ALS, 412 Hereditary neuralgic amyotrophy (HNA), 535 central nervous system disorders, 588 Hereditary neuropathy with liability to pressure palsy (HNPP) classification, 574 neuropathology, 528–529 clinical features pathogenesis, 528 dysautonomia, 578 phenotypic variation, 527–528 frequency, 577 Hereditary spastic paraplegia (HSP), 410 pain, 578 differential diagnosis and evaluation, 450–451 reduced/absent deep tendon etiology, 450 reflexes, 577 genetic subtypes, 451–452 differential diagnosis, 585 pathogenesis, 450 1570 Index

Heroin, and LS plexopathy, 1070 Hypermagnesemia, 1131–1132 Herpes zoster Hyperparathyroidism, 414 infectious disease HyperPP. See Hyperkalemic periodic paralysis (HyperPP) etiology, 1014 Hyperthyroidism, 413–414 management and prognosis, 1023 Hyperthyroid neuropathy, 699–700 neuropathy Hypertrophic neuropathy, 974 clinical presentation, 853 Hypoglossal nerve, 961, 962 etiology and pathogenesis, 852–853 Hypokalemic periodic paralysis (HypoPP) evaluation and diagnosis, 853 calcium channel mutations, 1170–1172 treatment and prognosis, 853 clinical presentation, 1169–1170 Hexacarbons differential diagnosis, 1173–1174 clinical presentation, 712 EDX testing, 1174 EDX studies, 712 exercise testing and muscle cooling, 1174 MEK, 711–712 gating pore current, depolarization, 1172 pathogenesis, 712 insulin-induced depolarization, 1172–1173 treatment and management, 712 laboratory testing, 1174 Hex A deficiency. See Acidic-hexosaminidase deficiency muscular weakness, 1170 Hidden botulism. See Adult intestinal toxemia botulism pathophysiology, 1173 Hirayama disease. See Monomelic amyotrophy (MMA) prognosis, 1175 HIV-associated neuropathies sodium/calcium channel mutations, 1170 antiviral therapy, 848 treatment and management, 1174–1175 autoimmune mechanisms, 845 HypoPP. See Hypokalemic periodic paralysis (HypoPP) clinical presentation, 845 Hypothyroidism, 43, 698–699 cranial neuropathies, 846 differential diagnosis, 843, 844, 846–847 direct and indirect effects, 842–843 I distal symmetrical polyneuropathy, 845–846 Iatrogenic botulism, 1105–1068. See also Botulism drug toxicity, 843–845 Iatrogenic brachial plexopathies, 1058–1059 DSP, 849 Idiopathic facial nerve palsy, 956–957 etiology and pathogenesis, 842 Idiopathic hyperCKemia, 44–45 evaluation and diagnosis, 847–848 Idiopathic lumbosacral plexitis, 1069–1070 immunotherapy, 848 Idiopathic neuropathies, 634 inflammatory demyelinating polyneuropathy, 846 IDP. See Inflammatory demyelinating polyneuropathy (IDP) metabolic abnormalities, 845 IgG autoantibody

mononeuropathy multiplex, 846 IgG4-AAb, 57 opportunistic infections, 845 type 1 (IgG-AAb1) prevalence, 841 a3-AChRs, 51, 53 prognosis, 849 VGCC, 53 progressive polyradiculopathy, 846 VGKC, 53 treatment, 848 type 2 (IgG-AAb2) HMSN I. See Hereditary motor and sensory neuropathy type I GD1b ganglioside, 55 (HMSN I) glycolipid/carbohydrate antigens, 55 HSP. See Hereditary spastic paraplegia (HSP) GM1 ganglioside, 54 HSP40-opathy, 1234 GQ1b/GT1a gangliosides, 54–55 Hu antigens, 56 type 3 (IgG-AAb3), 55–56 Human botulism, 1102 type 4 (IgG-AAb4) Human T cell leukemia virus type 1 (HTLV-1)-associated myositis, CRMP5, 56–57 1430–1431 Hu antigens, 56 Hydralazine, 722 IgM autoantibodies (IgM-AAb) HyperCKemia, after physical exercise, 41 GD1b ganglioside, 59 Hyperexcitability disorders GM1 ganglioside/NS6S, 58 amphiphysin antibodies, 73 MAG, 58–59 GABA-synthesizing enzyme GAD, 73 monoclonal proteins, 60–62 potassium channel antibodies, 72–73 properties, 57 Stiff person syndrome, 73 sulfatide, 59–60 Hyperkalemic cardiac arrest, 1191 target antigens, 60 Hyperkalemic periodic paralysis (HyperPP) TS-HDS, 59 clinical presentation, 1166–1167 IgM monoclonal gammopathy, 612 differential diagnosis, 1168 Iliohypogastric nerve, 940 EDX testing, 1168 Ilioinguinal nerve, 939–940 etiology and pathogenesis, 1167 Immune-mediated motor neuropathies exercise testing and muscle cooling, 1168 clinical presentation, 443–444 laboratory testing, 1168 conduction block, 442–443 prognosis, 1169 course and prognosis, 445 slow inactivation role, 1167 differential diagnosis, 444 treatment and management, 1168–1169 etiology and pathogenesis, 443 Index 1571

evaluation and diagnosis, 444 Infectious/parainfectious disorders, and LS plexopathy, 1070 treatment and management, 444–445 Inflammatory demyelinating polyneuropathy Immune system, and DM, 1266 (IDP), 846 Immunoglobulin light chain amyloidosis, 1506 Inflammatory myopathies Immunosuppressive agents, SMS, 1474 association with malignancy, 1357 Immunotherapy autoantibodies, 1357–1358 acute disease/relapses clinical features corticosteroids, 344–345 Gottron sign, 1356 intravenous immunoglobulin, 346 inclusion body myositis, 1356 plasma exchange, 345 polymyositis and dermatomyositis, 1355 subcutaneous immunoglobulin, 346 connective tissue disorders, 1357 assessment of efficacy, 341–343 differential diagnosis, 1365 biological agents EMG alemtuzumab, 349 active myositis, stages of, 1359 rituximab, 348–349 cycle of, 1361 TNF-alpha antagonists, 349 Lambert-Eaton myasthenic syndrome, 1360 drug interactions, 350 mixed potentials, 1360 immunomodulating procedures and suppressive agents steroid myopathy, 1361 complement inhibitors and sirolimus, 350 laboratory diagnosis, 1358 hematopoietic stem cell transplantation, 350 muscle biopsy thymectomy, 349–350 interfascicular space, 1361, 1363 inflammatory myopathies intranuclear tubular inclusions, 1362, 1364 dermatomyositis, 356–357 mononuclear cells, 1361–1362 IBM and immune-mediated necrotizing myopathy, 357 perifascicular atrophy, 1361, 1363 polymyositis, 357 proteins, 1363 inflammatory neuropathies regenerating fiber, 1361–1362 CIDP, 351–352 rimmed vacuoles, 1362, 1364 GBS, 350–351 segmental necrosis, 1361 multifocal motor neuropathy, 352–353 pathogenesis, 1364–1365 paraproteinemic immune polyneuropathies, 353–354 prognosis and outcome, 1366 vasculitic neuropathy, 354 respiratory care, 372 long-term maintenance respiratory symptoms, 1356–1357 azathioprine, 347 treatment, 1365–1366 cyclophosphamide, 348 Infraclavicular plexopathies, 1050–1051 cyclosporine, 348 Inhalational botulism, 1068. See also Botulism methotrexate, 347–348 Inherited metabolic neuropathies mycophenolate mofetil, 347 Bassen-Kornzweig disease, 562–563 tacrolimus, 348 cerebrotendinous xanthomatosis, 565 neuromuscular junction disorders classification, 549, 550 LEMS, 356 DNA repair disorders myasthenia gravis, 354–356 AT, 568 principles of, 341 CS, 567 starting and stopping therapy, 343 XP, 567 IMN. See Ischemic monomelic neuropathy (IMN) Fabry’s disease Imuranr. See Azathioprine (AZA) a-galactosidase-A (GLA), 563, 565 INCAT disability scale, 304 bathing trunk, 563–564 Inclusion body myositis (IBM) clinical features, 563–564 ALS, 413 enzyme replacement therapy, 565 treatment, 357 FAP Inclusion body myositis functional rating scale (IBMFRS), 300 epidemiology, 550 Individualized neuromuscular quality of life questionnaire phenotypes classification, 549–551 (INQoL), 310 leukodystrophies Indomethacin, 725 ALD/AMN, 560–562 Infant botulism, 1104–1067. See also Botulism globoid-cell leukodystrophy, 560 Infectious disease MLD, 558–559 etiology multiple sulfatase deficiency, 559 herpes zoster, 1014 saposin B deficiency, 559–560 Lyme polyradiculoneuropathy, 1015 NPD, 566–567 polyradiculopathy in HIV and AIDS, 1015 porphyria SEA, 1014–1015 clinical presentation, 555–556 management and prognosis diagnosis, 557 herpes zoster, 1023 etiology, 556–557 Lyme radiculoneuropathy, 1024 pathology and pathogenesis, 556 polyradiculopathy in HIV and AIDS, 1024 treatment, 557–558 postherpetic neuralgia, 1023 refsum disease, 566 SEA, 1023–1024 TD, 562 1572 Index

Inherited metabolic neuropathies (cont.) Lambert-Eaton myasthenic syndrome (LEMS), 356, 413, TTR amyloidosis 1089, 1103, 1107, 1280 apolipoprotein-A1, 555 clinical presentation diagnosis, 552, 554 autonomic manifestations, 1091–1092 gelsolin, 555 extremity weakness, 1091 pathogenesis, 551–553 oculomotor/bulbar weakness, 1091 treatment and prognosis, 554–555 respiratory insufficiency, 1092 Intensive care unit (ICU), 588–589 tendon reflexes, 1091 Interdigital neuropathy tumor association, 1092 clinical presentation, 932 CMS, 1115 differential diagnosis, 932 DELTA-P score, 1092, 1093, 1095 etiology and pathogenesis, 931–932 diagnosis evaluation and diagnosis, 932 anti-voltage-gated calcium channel antibodies, 1093 management, 932 electrodiagnostic features, 1093–1094 prognosis, 932 differential diagnosis, 1092–1093 treatment, 932 drug blocks VGKC, 1510 Interferon alpha, 724 etiology and pathogenesis, 1089–1091 Intermittent abdominal pressure ventilator (IAPV), 334–335 pathology, 1091 Intermittent neurogenic claudication, 970. See also Cauda equina postexercise facilitation, 1509 syndromes prednisone, 1510 International Classification of Impairments, Disabilities prognosis, 1096–1097 and Handicap (ICIDH) model, 288–289 repetitive nerve stimulation, 1509 Intervertebral discs, 981 and SCLC, 1092 Intestinal pseudo-obstruction, and DMD, 1212 symptoms, 1508 Intraneural ganglia, 906 treatment, 1094–1096 Intraoperative compression, 904–906 tumor association prediction score, 1509 Intrapartum fibular neuropathy, 906 Lambert-Eaton syndrome (LES), autoantibody testing, 69 Intravenous immunoglobulin (IVIg), 346, 590, 615–616, Laminopathy, 1233 1084–1085 Late-onset Tay-Sachs Disease. See Adult-onset hexosaminidase Intravenous steroid therapy, 345 A deficiency Invasive ventilatory support, 338–339 Lateral femoral cutaneous nerve (LFCN) Ionic composition, of mammalians, 22 anatomy, 937 Isaacs’ syndrome mononeuropathy clinical presentation, 1450 clinical presentation, 938 differential diagnosis, 1451 differential diagnosis, 938 treatment, 1451, 1452 etiology and pathogenesis, 937–938 Ischemic monomelic neuropathy (IMN) evaluation and diagnosis, 938–939 characteristic, 829 treatment and prognosis, 939 clinical presentation, 830 LDH. See Lactate dehydrogenase (LDH) differential diagnosis, 831 Lead EMG examination, distal-to-proximal gradient, 830 clinical presentation, 704 etiology and pathogenesis, 829–830 evaluation and diagnosis, 704–705 evaluation and diagnosis, 831 management, 705 prognosis, 831 pathogenesis, 704 treatment and management, 831 treatment, 705 Isoniazid, 720 Leflunomide, 724–725 Ixabepilone, 719 LEMS. See Lambert-Eaton myasthenic syndrome (LEMS) Leprous neuropathy clinical presentation, 850–851 J etiology and pathogenesis, 849–850 Joint diseases, and myopathy, 1198 Hansen’s disease, 849 Juvenile myasthenia gravis, 1086 prognosis, 851 treatment, 851 Leptomeningeal metastases, neoplastic disease K etiology, 1013–1014 KCNA1 gene, 1451 management and prognosis, 1023 Kennedy disease. See X-linked recessive bulbospinal muscular Leukodystrophies atrophy ALD/AMN, 560–562 King-Denborough syndrome, 1189 globoid-cell leukodystrophy, 560 Krabbe’s Disease, 560 MLD, 558–559 multiple sulfatase deficiency, 559 saposin B deficiency, 559–560 L Lewis-Sumner syndrome, 611 Lactate dehydrogenase (LDH), 46, 85 Lgi1, 57 Lafora bodies, 239 Lhermitte’s sign, 985 Index 1573

Ligamentum flavum hematomas, 1017 cyclophosphamide, 348 Light-chain amyloidosis cyclosporine, 348 clinical presentation, 637 methotrexate, 347–348 laboratory studies, 637–638 mycophenolate mofetil, 347 medical syndromes, 637 tacrolimus, 348 pathogenesis, 638 Long thoracic neuropathy treatment, 638 anatomy, 897 Limb-girdle muscular dystrophies (LGMD), 253, 1214 clinical presentation, 897–898 clinical manifestations, 1231 differential diagnosis, 898 historical perspective, 1231–1232 EDX studies, 898 LGMD 1, 1232 etiology and pathogenesis, 897 LGMD 1A, 1232–1233 management and prognosis, 898 LGMD 1B, 1233 Lovastatin, 722 LGMD 1C, 1233–1234 Lower motor neuron (UMN) syndrome, 396–398 LGMD 1D, 1234 Lower sacral radiculopathy (S2-S4), 1008 LGMD 1E, 1234–1235 LS plexopathy. See Lumbosacral (LS) plexopathy LGMD 1F, 1235 Lumbar spinal stenosis, 1022 LGMD 1G, 1235 Lumbosacral and thoracic radiculopathies. See also Radiculopathy LGMD 1H, 1235–1236 anatomy, 1001–1004 LGMD 2, 1236 clinical presentation LGMD 2A, 1236–1238 cauda equina syndromes, 1008 LGMD 2B, 1238–1239 lumbosacral monoradiculopathy, 1006–1008 LGMD 2C, 1239–1241 lumbosacral polyradiculopathy, 1008 LGMD 2D, 1241–1242 radiculopathy, localization of, 1006 LGMD 2E, 1242 thoracic radiculopathy, 1009 LGMD 2F, 1242 diagnosis, 1017 LGMD 2G, 1242–1243 conventional nerve conduction studies, 1018 LGMD 2H, 1243 EDX studies, 1018 LGMD 2I, 1244 EMG vs neuroimaging, diagnostic utility of, 1020–1021 LGMD 2J, 1244 late responses, 1019 LGMD 2K, 1244 needle EMG, 1019–1020 LGMD 2L, 1244–1245 neuroimaging, 1020 LGMD 2M, 1245, 1246 thoracic radiculopathies, approach to, 1021 prognosis, 1247 etiology treatment, 1247–1248 degenerative spine disease, 1009–1012 X-linked LGMDs, 1245 diabetic radiculopathy, 1016 Barth syndrome, 1245 epidural anesthesia, 1016 Danon’s disease, 1247 infectious disease, 1014–1015 Emery-Dreifuss muscular dystrophy 1, 1246–1247 neoplastic disease, 1012–1014 Emery-Dreifuss muscular dystrophy 6, 1247 spinal anesthesia, 1016 Limb mononeuropathies, and DPN, 666 spinal arachnoiditis, 1016–1017 Linezolid, 721–722 TCS, 1017 Lipid-lowering agents unusual compressive lesions, 1017 fibric acid derivatives evaluation, 1017–1018 clinical presentation, 1411 management and prognosis etiology and pathogenesis, 1410–1411 degenerative spine disease, 1021–1022 predisposing factors, 1411 diabetic radiculopathy, 1024 treatment/prognosis, 1411 infectious disease, 1023–1024 3-hydroxy-3-methyl-glutaryl coenzyme A reductase inhibitors, neoplastic disease, 1022–1023 1405–1406 spinal arachnoiditis, 1025 animal models, 1408 pathophysiology, 1004–1006 biomarkers, 1409 Lumbosacral disc herniation clinical presentation, 1406 etiology, 1009–1011 drug interactions, 1409 management and prognosis, 1021–1022 epidemiology, 1406–1407 Lumbosacral monoradiculopathy, 1006–1008 genetic susceptibility, 1408–1409 lower sacral radiculopathy (S2-S4), 1008 mechanistic hypothesis, 1407 L1 radiculopathy, 1007 patient management, 1409–1410 L2 radiculopathy, 1007 Lipohamartomas, 973 L3 radiculopathy, 1007 Lipomas, 973 L4 radiculopathy, 1007 LNB. See Lyme neuroborreliosis (LNB) L5 radiculopathy, 1007–1008 Localized tetanus, 1481 S1 radiculopathy, 1008 Long leg brace, 428 Lumbosacral (LS) plexopathy, 1063 Long-term maintenance immunotherapies anatomy, 1063 azathioprine, 347 causes, 1063 1574 Index

Lumbosacral (LS) plexopathy (cont.) laboratory tests, 473 clinical presentation, 1063–1064 pathology studies, 474–475 CMAP amplitudes, 1064 signs, 472 compressive disorders symptoms, 472 abscess, 1067 etiology, 471 aneurysms and large vessel disease, 1067 management, 475–476 gluteal compartment syndrome, 1067 pathogenesis, 471 hemorrhage, 1065 prognosis, 476 neoplastic plexopathy, 1065–1066 treatment, 475–476 pregnancy and labor, 1066 Malignant neural sheath tumors (MNST) traumatic and postoperative plexopathy, conventional, 975 1066–1067 with divergent (epithelial) differentiation, 976 electrodiagnostic study, 1064–1065 with divergent (rhabdomyo sarcomatous) differentiation, 976 evaluation, 1065 epithelioid, 975 noncompressive disorders of sciatic nerve, 977 diabetic amyotrophy, 1067–1068 Manitoba Hutterite dystrophy, 1243 heroin, 1070 Manually assisted coughing, 336 idiopathic lumbosacral plexitis, 1069–1070 Manual muscle test (MMT), 4 infectious/parainfectious disorders, 1070 Marfan syndrome, FIS, 1541 radiation plexopathy, 1068–1069 Marine toxins, 1136–1137 vasculitis, 1070 Marstock method, 224 pain in, 1064 Martin-Gruber anastomosis, 116–119 treatment, 1065 Maternal and neonatal tetanus, 1481 Lumbosacral polyradiculopathy, 503, 1008 McArdle’s disease Lumbosacral radiculopathy, 1009 clinical presentation, 1315–1316 Lumbosacral spine, and spinal nerves, 1001–1002 diagnosis, 1316 Lumbosacral spondylosis, 1011–1012 evaluation, 1316 Lyme infection, 1070 genotype/phenotype relationship, 1314 Lyme neuroborreliosis (LNB), 1015, 1024 glycogen accumulation, 1315 Lyme neuropathy management, 1316 clinical presentation, 851–852 molecular heterogeneity, 1314 diagnosis, 852 pathophysiological mechanisms, 1315 etiology and pathogenesis, 851 treatment, 1316 evaluation, 852 McGill quality of life scale (MQoL), 316 prognosis, 852 Mechanical insufflation-exsufflation, 336 treatment, 852 Mechanical nociceptors, 223 Lyme polyradiculoneuropathy, 1015 Mechanical stress hypothesis, 1285 Lyme radiculoneuropathy, 1024 Mechanical transduction disorders, 252–253 Lymphangiomas, 972 Mechanoreceptors, 223 Medial brachial fascial compartment syndrome, 1051 Median neuropathy, wrist M anatomy, 871, 872 MAG. See Myelin-associated glycoprotein (MAG) clinical presentation, 872–873 Malignant hyperthermia (MH) differential diagnosis, 873–874 clinical abnormality, 1188 EDX studies, carpal tunnel release, 876–877 clinical characteristics, 1189–1190 etiology and pathogenesis, 871–872 controversial agents to, 1192 evaluation and diagnosis diagnosis, 1190–1191 CMAP and SNAP changes, 875 differential diagnosis, 1191 internal comparison study, 874–875 genetics, 1189 nerve conduction studies, 876 laboratory abnormality, 1188 management, 877 management, 1192 prognosis, 877 pathogenesis, 1187–1189 symptoms and signs, 873 respiratory care, 373–374 Mediated transport, 22 RYR1 receptor, 1187, 1188 Medical Research Council (MRC) scale, 342 safe agents to, 1192 Membrane potential, 22–23 testing protocols for, 1190 Meningeal carcinomatosis, neoplastic disease transverse tubule and sarcoplasmic reticulum, 1187 etiology, 1013–1014 treatment, 1191–1192 management and prognosis, 1023 triggering agents to, 1192 Mercury Malignant hyperthermia syndrome 1 (MHS1), 1189 clinical presentation, 707–708 Malignant inflammatory sensory polyganglionopathy (MISP) diagnosis, 708 clinical presentation, 472 evaluation, 708 diagnosis management, 708 electrophysiologic tests, 473 pathogenesis, 707 imaging studies, 473–474 treatment, 708 Index 1575

Metabolic bone disease, muscle disorders with Misonidazole, 719 hypoparathyroidism, 1395 MISP. See Malignant inflammatory sensory polyganglionopathy osteomalacia, 1394–1395 (MISP) pathology, 1393 Mitochondrial myopathies primary hyperparathyroidism, 1393–1394 biochemical properties secondary hyperparathyroidism, 1394 electron transport chain, 1336 Metabolic myopathies Krebs cycle, 1335–1336 adenylate deaminase deficiency, 1324 oxidative phosphorylation, 1336 disorders causing fixed weakness substrate utilization, 1335 acid maltase deficiency, 1324–1327 clinical presentation, 1417, 1419 Debrancher deficiency, 1327 defects of glycogen branching enzyme deficiency, 1327–1328 intergenomic communication, 1342–1343 dynamic vs. static symptoms, 1311 lipid milieu composition, 1346–1347 electron transport chain, 1313 mitochondrial dynamics, 1347–1348 exercise intolerance and myoglobinuria nuclear DNA, 1339 aldolase deficiency, 1318–1319 differential diagnosis, 1419 beta-enolase deficiency, 1319 etiology, 1417 glycogenin deficiency, 1320 genes encoding ancillary proteins, mutations in glycogenoses, 1313 complex I, 1341 lactate dehydrogenase deficiency, 1319 complex II, 1341 muscle glycogen synthetase deficiency, 1319–1320 complex III, 1341–1342 myophosphorylase deficiency (see McArdle’s disease) complex IV, 1342 phosphofructokinase deficiency (see Tarui disease) complex V, 1342 phosphoglucomutase deficiency, 1316 iron-sulfur cluster scaffold protein deficiency, 1342 phosphoglycerate kinase deficiency, 1319 genetics, 1336–1337 phosphoglycerate mutase deficiency, 1319 mtDNA depletion, disorder by phosphorylase kinase deficiency, 1314 encephalomyopathic MDS, 1345–1346 very-long-chain acyl-CoA dehydrogenase defi ciency, 1313 hepatocerebral MDS, 1346 lipid metabolism disorders myopathic MDS, 1345 carnitine palmitoyltransferase II deficiency, 1320–1321 translational defects, 1346 Chanarin-Dorfman syndrome, 1329 multiple mtDNA deletions, disorders by coenzyme Q10 deficiency, 1323 GFER, mutations in, 1345 iron-sulfur cluster scaffold protein deficiency, 1323 mitochondrial neurogastrointestinal encephalomyopathy, 1343 medium-chain acyl-CoA dehydrogenase deficiency, 1329 MPV17, mutations in, 1345 mitochondrial trifunctional protein deficiency, 1321–1322 mutations in adenine nucleotide translocator (ANT1), 1343 multiple acyl-CoA dehydrogenase deficiency, 1329 OPA1, mutations in, 1344 neutral lipid storage disease with myopathy, 1329 PEO1, mutations in, 1343–1344 phosphatidic acid phosphatase deficiency, 1322 polymerase g, mutations in, 1344 primary myopathic carnitine deficiency, 1328 RRM2B, mutations in, 1344–1345 primary systemic carnitine deficiency, 1328 TK2, mutations in, 1345 respiratory chain defects, 1322–1323 pathogenesis, 1417 secondary carnitine deficiency, 1328–1329 primary mitochondrial DNA mutations very long-chain acyl-CoA dehydrogenase defi ciency, 1321 myoclonus epilepsy with ragged-red ?bers, 1338 mitochondrial energy metabolism, 1312 neuropathy, ataxia, and retinitis pigmentosa respiratory chain, 1313 syndrome, 1338 transport of FFA, 1312 transfer RNA genes, 1337 Metachromatic leukodystrophy (MLD) respiratory chain subunits, mutations in coenzyme Q ARSA, 558, 559 10 deficiency, 1340–1341 multiple sulfatase deficiency, 559 complex V, 1341 saposin B deficiency, 559–560 cytochrome c oxidase, 1341 tuff stone inclusion bodies, 559 NADH-ubiquinone oxidoreductase, 1339–1340 Metastatic carcinoma, 977 succinate-ubiquinone oxidoreductase, 1340 Methotrexate ubiquinol-cytochrome c reductase, 1341 long-term maintenance immunotherapies, 347–348 structural properties, 1335 and myasthenia gravis, 1085 treatment/management, 1419 Methylprednisolone, 1024 zidovudine myopathy, 1348 Methysergide, 724 Mitochondrial neurogastrointestinal encephalomyopathy Metronidazole, 720 (MNGIE), 1343 Mexiletine, 1271 Mixed connective tissue disease (MCTD), 75–76 MFS. See Miller-Fisher syndrome (MFS) Miyoshi distal myopathy, 1238 MGUS. See Monoclonal gammopathies of unknown significance Miyoshi muscular dystrophy 3, 1244–1245 (MGUS) MLD. See Metachromatic leukodystrophy (MLD) MH. See Malignant hyperthermia (MH) MM. See Mononeuropathy multiplex (MM) MHS1. See Malignant hyperthermia syndrome 1 (MHS1) MMN. See Multifocal motor neuropathy (MMN) Midline cauda equina syndrome, 1008 3-mm punch skin biopsy, 261–262 Miller-Fisher syndrome (MFS), 594–595, 1103 Molecular diagnostics. See Genetic testing 1576 Index

Molecular genetic testing, and dystrophinopathy, 1216 anatomic factors, 168–169 Molecular pathogenesis, and DM, 1268 duration, 111 gene interaction, 1269 end plate potential, 168 haploinsufficiency, 1269 firing pattern RNA toxic gain of function, 1268–1269 interference pattern, 113–114 Monascus purpureus, 1410 semi-rhythmic pattern, 113 Monoclonal gammopathies of unknown significance (MGUS) interference pattern analysis dysproteinemic neuropathies, 634–637 disease process, 187 paraneoplastic disorders, 1505 frequency domain measurements, 182–184 Monomelic amyotrophy (MMA) MUAP waveform, 186–187 ALS, 411 practical considerations, 187–189 clinical presentation, 448 subjective assessment, 182 course and prognosis, 449 turns and amplitude, 184–186 diagnosis, 448 morphology, 109–111 differential diagnosis, 448 needle EMG position, 111 etiology and pathogenesis, 447–448 nerve and muscle diseases evaluation, 448 computer simulations, 176 Mononeuropathy multiplex (MM), 846 MUAP classical patterns, 175–176 Morton’s neuroma. See Interdigital neuropathy neuromuscular junction disease, 175 Morvan’s syndrome, 72 neuropathy, 175 clinical presentation, 1450 temporal dispersion, 176–177 differential diagnosis, 1451 in normal subjects treatment, 1450 monopolar needle EMG, 174–175 Motor conduction blocks, 580–581 MUAP duration and amplitude, 173–174 Motor neuron disorders (MND) technical factors, 174 clinical assessment instruments physiology, 108–109 ACTS, 299–300 polyphasia, 111 ALSFRS-R, 295–297 recording electrode, 168 Appel ALS scale, 297–298 satellite potentials, 112 CNS lability scale, 299 serrations, 111–112 Norris ALS scale, 298 stability, 112–113 SMAFRS, 299 temporal dispersion, 169 clinical features, 1535 waveform analysis paraneoplastic neuromuscular disorders, 1503 assessment strategies, 172–173 Motor neuropathy concentric needle EMG recording, 169–170 diabetic polyneuropathy (DPN), 660 electrodes, 171 hereditary, 435 “linked” or “satellite” potentials, 172 IgM vs. GM1 ganglioside, 58 MUAP area, 172 multifocal, 352–353 MUAP duration, 171 Motor systems MUAP stability and instability, 172 motor units, 34–35 multi-motor unit analysis, 170 muscle fiber diversity, 33–34 needle insertions, 170–171 muscles organization, 35 polyphasic MUAP, 171 Motor unit (MU) serrated MUAP, 171 firing rate analysis skin insertion site selection, 171 assessment strategies, 182 trigger and delay line device, 170 disease process, 181–182 Motor unit number estimation (MUNE) inter-discharge interval, 178 clinical utility, 194–195 manual analysis, 178 limitations, 194 nerve and muscle diseases, 180–181 in normal and disease patients, 193–194 in normal subjects, 179–180 principle, 189 recording technique, 178–179 surface-recorded MUAP hypertrophic muscle fibers, 167–168 “all or none” phenomenon, 189, 190 motor unit action potential (see Motor unit action potential motor unit number index, 192–193 (MUAP)) multipoint stimulation (MPS) method, 190 motor unit number estimation (see Motor unit number estimation phase cancellation, 191 (MUNE)) “phase-corrected” SMUAP amplitude, 191 muscle biopsy, 167, 168 pitfalls, 189–190 muscle fiber distribution, 166–167 spike-triggered averaging (STA), 190–191 myopathy, 167 submaximal intensity, 191–192 neurogenic disease, 167 Motor unit number index (MUNIX), 192–193 recruitment, 167 Mouthpiece NIV, 335 size, 167 M-proteins, 60–62 Motor unit action potential (MUAP), 1019, 1020 MUAP. See Motor unit action potential (MUAP) acetylcholine release, 168 Multifocal motor neuropathy (MMN) amplitude, 112 clinical features, 619–620 Index 1577

clinical presentation, 443–444 EDMD, 373 conduction block, 442–443 limb girdle, 253, 372 course, 445 oculopharyngeal, 413 diagnosis, 444 respiratory care, 372–373 differential diagnosis, 444, 620 Muscular dystrophy-dystroglycanopathy (MDDG), 253 electrodiagnostic features, 620–622 Muscular dystrophy-dystroglycanopathy (Limb-girdle) etiology, 443 type C1, 1244 evaluation, 444 Muscular dystrophy-dystroglycanopathy (Limb-girdle) laboratory findings, 622 type C4, 1245, 1246 management, 444–445 Musculocutaneous neuropathy pathogenesis, 443, 622–623 anatomy, 895, 896 peripheral nerve disorders, 497 clinical presentation, 896 prevalence, 619 diagnosis, 896–897 prognosis, 445 differential diagnosis, 896 therapy, 623 etiology, 895–896 treatment, 352–353, 444–445 evaluation, 896–897 without CB and axonal, 623 management, 897 Multifocal motor neuropathy with conduction block (MMNCB), 412 pathogenesis, 895–896 Multiple cranial neuropathy variant, 595 prognosis, 897 Multiple myeloma (MM) neuropathy Mutations dysproteinemic neuropathies, 639 and DM, 1267 PND, 1506 anticipation, 1267 Muscle disease severity, 1267–1268 atrophy, 6 suppression, 1223 biopsy (see Muscle biopsy) Myalgia, 7, 1199 channelopathies, 251 Myasthenia gravis (MG), 587, 1075, 1508, 1515 cramps (see Muscle cramps) ALS, 413 fiber types, 34 autoantibody testing, 69 growth products and dystrophinopathy, 1223–1224 clinical assessment instruments histology and myopathy, 1204–1205 activities of daily living score, 303 hypertrophy, 6 MG composite score, 301, 302 and myotonic dystrophy, 1261 MSS, 302–303 facial features, 1262, 1263 myasthenic functional score, 303 myotonia, 1262, 1264 myasthenic muscular score, 302 weakness, distribution of, 1261–1262 QMG score, 301 strength assessment, 4 clinical presentation, 1078–1079 weakness, 1198 diagnosis, 1080–1082 Muscle biopsy differential diagnosis, 1079–1080 and dystrophinopathy, 1216 evaluation, 1080–1082 dystrophin immunostaining, 1216–1218 immunopathogenesis, 1076–1078 histopathological findings, 1216 juvenile myasthenia gravis, 1086 Western blot analysis, 1218 ocular myasthenia, treatment of, 1085 and myotonic dystrophy, 1270 physiologic defect, 1075–1076 Muscle cramps, 7–8 and pregnancy, 1085 clinical syndromes and treatment prognosis, 1085 benign nocturnal cramps, 1460 SFEMG, 158 excessive alcohol consumption, 1459 and thymoma, 1085–1086 heat and exercise cramps, 1458–1459 treatment, 354–356, 1082 Satoyoshi syndrome, 1460 azathioprine, 1083–1085 vitamin E, 1459 cholinesterase inhibitors, 1082–1083 definitions of, 1455–1456 cyclophosphamide, 1085 electrically silent contractures, 1455 cyclosporine, 1084 etiology of glucocorticoids, 1083 central and peripheral mechanism, 1457 intravenous immunoglobulin, 1084–1085 cramp discharge, 1456 methotrexate, 1085 firing rate, 1457 mycophenolate mofetil, 1084 exercise and sleep, 1455 plasma exchange, 1084 lab evaluation, 1458 rituximab, 1085 ordinary cramps, 1455–1456 tacrolimus, 1084 paresthesias, 1455 thymectomy, 1084 types and therapy, 1458 trials in, 322 Writer’s cramp, 1456 Myasthenic syndrome. See Lambert-Eaton myasthenic syndrome Muscle-specific enolase, 47 (LEMS) Muscular dystrophy Mycophenolate mofetil (MMF), 347, 1084 Becker, 253 Mycoplasma pneumoniae (M. pneumoniae), 575 Duchenne, 253, 332, 372 Myelin-associated glycoprotein (MAG), 58–59 1578 Index

Myelopathy, 999 modified MRC grade, 1203 Myoadenylate deaminase deficiency (MADD), 85 neurological examination, 1202–1204 Myoblastomas, 972 recommended workup, 1206 Myoedema, 8 trials in, 320–321 Myofiber necrosis, 42–43 Myosins, 31, 33 Myofibrillar myopathy 3, 1232–1233 Myositis Myofibrillar myopathy type 1, 1234 HIV associated with myopathy Myoglobinuria, 1191 clinical manifestations, 1429 Myokymia, 8 diagnosis and evaluation, 1429–1430 clinical presentation, 1450–1451 etiology and pathogenesis, 1429 diagnosis, 1451 nemaline myopathy, 1430 differential diagnosis, 1451 pyomyositis, 1430 etiology, 1449–1450 treatment, 1430 evaluation, 1451 HTLV-1-associated myositis, 1430–1431 history, 1449 overlap antibodies management, 1451 lupus myositis, 76 pathogenesis, 1449–1450 mixed connective tissue disease, 75–76 prognosis, 1451–1452 polymyositis-scleroderma overlap syndrome, 75 treatment, 1451 secondary from protozoa, 1439–1440 Myokymic discharges, 107 secondary to cestodes Myopathy Ancylostoma caninum, 1439 agents causing toxic myopathies, 1201 Dracunculiasis, 1439 atrophy, patterns of, 1203 Echinococcus infections, 1438–1439 clinical assessment instruments Spirometra mansonoides, 1438 IBMFRS, 300 secondary to parasites MYOACT, 300–301 cysticercosis, 1437–1438 myositis intention to treat activities index, 300 trichinosis, 1435–1436 and cognitive impairment, 1202 specific antibodies creatine kinase, elevation in, 42–43 anti-Mi-2, 75 disease associations, 1201 anti-p155/140 and anti-MJ (anti-NXP-2), 75 electromyography, 148 anti-signal recognition particle antibodies, 75 evaluation steps, 1197 antisynthetase autoantibodies, 73–75 floppy infant syndrome Myositis disease activity assessment (MYOACT), congenital muscular dystrophies, 1541 300–301 congenital myotonic dystrophy, 1540 Myositis Intention to treat activities index (MITAX), 300 diagnostic approach algorithm, motor unit disorders, 1539 Myositis ossificans, 972 metabolic myopathies, 1540 Myositis-specific autoantibodies (MSA), 1357–1358 muscle biopsy, 1539–1540 Myotilin, 1233 forearm exercise test Myotilinopathy, 1232–1233 acid maltase deficiency, 85 Myotonia, 8 beta-enolase deficiency, 84 Myotonic dystrophy (DM) brancher deficiency, 85 classification, 1260 CPT deficiency, 85 adult-onset myotonic dystrophy type 1, 1261 debrancher deficiency, 85 childhood-onset myotonic dystrophy glycogen synthase deficiency, 84 type 1, 1261 lactate dehydrogenase (LDH) deficiency, 85 congenital myotonic dystrophy type 1, 1260 lactate transporter defect, 85 myotonic dystrophy type 2, 1261 myoadenylate deaminase deficiency, 85 clinical features myophosphorylase deficiency, 82 central nervous system, 1265 phosphofructokinase deficiency, 82–84 endocrine, 1265 phosphoglucomutase deficiency, 84 eye, 1264 phosphoglycerate kinase deficiency, 84 gastrointestinal tract, 1266 phosphoglycerate mutase deficiency, 84 heart, 1264–1265 phosphorylase kinase deficiency, 84 immune system, 1266 general physical examination, 1201–1202 muscle, 1261–1264 history, 1197 neoplasia, 1266 family history, 1199–1200 skin, 1266 medical history, 1201 sleep and respiratory system, 1265–1266 pattern recognition and rarely involved muscles, 1199 system abnormality, 1266 treatment history, 1201 diagnosis and evaluation, 1269 with inflammation on biopsy, 1205 additional tests, 1271 laboratory testing differential diagnosis, 1271 creatine kinase, 1204 genetic testing, 1270–1271 electromyography, 1204 muscle biopsy, 1270 genetic testing, 1205–1206 epidemiology, 1260 muscle histology, 1204–1205 genotype-phenotype correlation, 1269 Index 1579

management, 1271 MUAP evaluation, 101–102 molecular pathogenesis, 1268 muscle sampling, 100 gene interaction, 1269 needles, 100 haploinsufficiency, 1269 nonphysiologic factors RNA toxic gain of function, 1268–1269 co-stimulation of adjacent nerves, 122–123 mutations, 1267 distance measurements, 124 anticipation, 1267 electrode impedance and noise, 120, 121 disease severity, 1267–1268 electrode placement, 123 myotonic dystrophy type 1, 1259–1260 filters, 121–123 myotonic dystrophy type 2, 1260 stimulator position, 122 prognosis, 1271–1272 stimulus artifact, 120, 122 treatment, 1271 supramaximal stimulation, 122 Myotonic dystrophy type 1, 1259–1260 sweep speed and sensitivity, 124–125 Myotonic dystrophy type 2, 1260, 1261 normal spontaneous activity Myotubular myopathy, 1303–1304 end-plate noise, 102–103 clinical features, 1304 end-plate spikes, 103 pathogenesis, 1304–1305 physiologic factors pathological features, 1304 accessory deep peroneal nerve, 119 age, 116 height, 116 N Martin-Gruber anastomosis, 116–119 Nageotte banding artifact, 254 nerve segment location, 116 Nasal intermittent NIV, 335 Riche-Cannieu anastomosis, 119–120 Nebulin, 32 temperature, 115 Neck pain. See Cervical radiculopathy quantitative analysis Needle electromyography (EMG) characteristics, 195–196 abnormal spontaneous activity motor unit (see Motor unit (MU)) complex repetitive discharges, 105–106 multi-motor unit analysis, 196 cramp potentials, 107, 108 single-fiber EMG, 196 fasciculation potential, 106 tibialis anterior and medial gastrocnemius muscle, 99 fibrillation potentials, 103, 104 Needle EMG examination, and cervical radiculopathy, 988 myokymic discharges, 107 acute radiculopathy, 989 myotonic discharge, 106 chronic radiculopathy, 990 neuromyotonic discharges, 107, 108 individual root lesions, 991 positive waves, 104–105 nerve root lesion, localization of, 988 axon reflex, 131–132 root localization, 989 blink reflex severity of radiculopathy, 990 abnormalities patterns, 134–135 timing, 988 anatomy, 132–133 Negative pressure body ventilators (NPBVs), 334 procedure, 133–134 Nemaline myopathy, 251–252 disadvantages, 98–99 Neoplasia, and DM, 1266 first dorsal interosseous, 99 Neoplastic brachial plexopathies F response evaluation, 1055–1056 advantages, 128 primary, 1053–1054 disadvantages, 128–129 secondary, 1054–1055 F wave, 125–126 Neoplastic disease procedure, 126–128 etiology GBS, 582 epidural metastases, 1012–1013 H (Hoffmann) reflex leptomeningeal metastases, 1013–1014 clinical applications, 130–131 meningeal carcinomatosis, 1013–1014 tibial H-reflex procedure, 129–130 primary tumors, 1012 insertional activity, 102 vertebral metastases, 1012–1013 lumbosacral and thoracic radiculopathies, 1019–1020 management and prognosis monopolar vs. concentric needle electrodes, epidural metastases, 1023 100–101 leptomeningeal metastases, 1023 motor unit action potentials meningeal carcinomatosis, 1023 amplitude, 112 primary tumors, 1022–1023 duration, 111 vertebral metastases, 1023 firing pattern, 113–114 Neoplastic plexopathy, 1065–1066 morphology, 109–111 Nernst equation, 22 needle EMG position, 111 Nerve and cord impingement, pathophysiological mechanisms of, physiology, 108–109 983–984 polyphasia, 111 Nerve conduction studies (NCS). See also Sensory NCS satellite potentials, 112 antidromic vs. orthodromic sensory study, 96–97 serrations, 111–112 lumbosacral and thoracic radiculopathies, 1018 stability, 112–113 mixed NCSs, 96 1580 Index

Nerve conduction studies (NCS) (cont.) prognosis, 1498 motor NCSs sympathoadrenal hyperactivity, 1490 compound muscle action potential, 93–94 treatment and management motor conduction study setup, 92–93 dopamine agonists, 1497 motor responses, 92 early/mild NMS, 1496–1497 nonphysiologic factors post NMS, 1497–1498 co-stimulation of adjacent nerves, 122–123 prodromal phase, 1496 distance measurements, 124 supportive measures, 1497 electrode impedance and noise, 120, 121 Neurological disorders, and myopathy, 1198 electrode placement, 123 Neuromuscular junction (NMJ), 247, 248 filters, 121–123 electron photomicrograph, 28 stimulator position, 122 end plate, 27 stimulus artifact, 120, 122 floppy infant syndrome supramaximal stimulation, 122 congenital myasthenic syndromes, 1538–1539 sweep speed and sensitivity, 124–125 infantile botulism, 1539 physiologic factors motor unit disorders, 1536, 1538 accessory deep peroneal nerve, 119 neonatal myasthenia gravis, 1538 age, 116 neuromuscular weakness, 1527–1529 height, 116 organization, 27–28 Martin-Gruber anastomosis, 116–119 transmission, 28–29 nerve segment location, 116 Neuromyotonia, 8 Riche-Cannieu anastomosis, 119–120 autoantibody testing, 72 temperature, 115 clinical presentation, 1450 preganglionic lesions, 97, 98 diagnosis, 1451 sensory nerve conduction studies, 94–96 differential diagnosis, 1451 temporal dispersion and phase cancellation, 97–100 etiology, 1449–1450 Nerve conduction study, and cervical radiculopathy, 986–987 evaluation, 1451 late responses, 987–988 history, 1449 routine studies, 987 management, 1451 SEPs, 988 pathogenesis, 1449–1450 Nerve conduction velocities slowing, 581 prognosis, 1451–1452 Neuralgic amyotrophy. See Parsonage-Turner syndrome treatment, 1451 Neurectomy, 940 Neuropathic beriberi Neurofibromatosis 1, 971 clinical presentation, 676 Neurofilaments, 60 differential diagnosis, 676–677 Neurogenic disorders discription, 675–676 creatine kinase, elevation in, 43 electrodiagnostic (EDX) features, 677 fibrillation potentials, 104 etiology and pathogenesis, 676 Neuroimaging management, 677 vs. EMG, 1020–1021 prognosis, 677 lumbosacral and thoracic radiculopathies, 1020 thiamine, 676 Neuroleptic malignant syndrome (NMS) Neuropathic pain, 7–8 animal models, 1491 consensus treatment guidelines, 1586 atypical antipsychotics, 1495–1496 definition, 1575 catatonia, 1496 excitatory and inhibitory pain pathways, 1585 cholinergic hyperactivity hypothesis, 1489 Herpes Zoster treatment, 1581–1582 clinical presentation medications, 1586 complications and residual symptoms, 1492–1493 vs. nociceptive pain, 1575 drug-induced catatonia, 1492 non-pharmacologic techniques, 1585 drug-induced parkinsonism, 1492 pathology and clinical manifestations, 1580–1581 mild, early stages, 1492 pathophysiology moderate and severe stages, 1492 allodynia, 1576 conditions, 1487 dynamic bidirectional process, 1576 differential diagnosis, 1493–1494 fibromyalgia, 1576 dopamine-blockade hypothesis, 1489 sensation in stimulus-induced chronic pain, 1576 dopamine-serotonin interactions, 1489 structures and pathways, 1575 drug-drug interactions, 1495 peripheral nervous system epidemiology, 1487–1488 A-beta fibers, 1576 etiology and pathogenesis, 1488 A-delta fibers, 1577 evaluation, 1493 axon injury, 1578 genetic factors, 1488 ion channels, 1577–1578 hypoferremia and acute phase reaction, 1490–1491 sensitizing soup, 1577 infections, 1494–1495 postherpetic neuralgia, 1580 malignant hyperthermia, 1496 agents, 1585 opioid GABAergic and glutamatergic hypotheses, 1490 central sensitization modulation, 1584 postmortem studies, 1491 monoaminergic systems, 1583 Index 1581

nerve blocks, 1584–1585 prognosis, 829 opioids, 1582–1583 treatment and management, 828–829 pathophysiology, 1581 types, 825–826 peripheral sensitization modulation, 1583–1584 frostbite, 835–836 prevention, 1582 hand-arm vibration syndrome, 836–837 treatment regimen comparison, 1585 ischemic monomelic neuropathy (IMN) spinal cord characteristic, 829 inhibitory pathway, 1580 clinical presentation, 830 long-term sensitization, 1578 differential diagnosis, 831 mechanisms, 1579–1580 etiology and pathogenesis, 829–830 wind-up, 1578 evaluation and diagnosis, 831 treatment, 1580 prognosis, 831 Neuropathic tremor, 8–9 treatment and management, 831 Neuropathy. See Specific entries Norris ALS scale, 298 Neuropathy disability scale, 303–304 Numb chin and numb cheek syndromes, 955 Neurothekeomas, 972 Numbness, and myopathy, 1198 Niemann-Pick disease (NPD), 566–567 NINDS outcomes, 289 NISP. See Nonmalignant inflammatory sensory polyganglionopathy O (NISP) Obscurin, 32 Nitrofurantoin, 720–721 Obstetric brachial plexopathy, 1049–1050

Nitrous oxide (N2O), 725 Obturator nerve, 942 NMS. See Neuroleptic malignant syndrome (NMS) Ocular myasthenia, treatment of, 1085 Nociceptive pain, 1575 Ocular neuromyotonia, 1450 Nociceptors, 223 Oculomotor/bulbar weakness, and LEMS, 1091 Nocturnal inspiratory muscle aids, 334 Oculopharyngeal muscular dystrophy (OPMD), 413 Node of Ranvier, 26, 238 clinical presentation, 1279–1280 Noncompressive disorders, and LS plexopathy diagnosis, 1280 diabetic amyotrophy, 1067–1068 differential diagnosis, 1280 heroin, 1070 etiology and pathogenesis, 1277–1279 idiopathic lumbosacral plexitis, 1069–1070 evaluation, 1280–1281 infectious/parainfectious disorders, 1070 intranuclear tubular filaments, 1278 radiation plexopathy, 1068–1069 management, 1281 vasculitis, 1070 origination, 1278 Noninvasive intermittent positive pressure ventilation (NIV), 334 PABPN1, 1279 Nonmalignant inflammatory sensory polyganglionopathy (NISP) prognosis, 1281 clinical presentation, 477 Onion bulbs, 242, 243 diagnosis Onion-Whorl disease, 974 electrophysiologic testing, 478 Online Mendelian Inheritance in Man (OMIM), 272 imaging studies, 478 OPMD. See Oculopharyngeal muscular dystrophy (OPMD) laboratory testing, 477–478 Ordinal vs. continuous measures, 290 pathologic studies, 478–479 Organophosphates, 1421 symptoms and signs, 477 Organophosphorous (OP) etiology and pathogenesis, 476–477 clinical presentation, 710 management, 479 differential diagnosis, 710–711 prognosis, 479 electrodiagnostic testing, 711 toxic polyganglionopathy, 479–480 management, 711 treatment, 479 pathogenesis, 710 Non-repeating heat-pain algorithm, 228 treatment, 711 Nonsteroidal immunotherapies. See Long-term maintenance Orphanet, 273 immunotherapies OSM. See Osteosclerotic myeloma (OSM) Nonvasculitic ischemic neuropathies Osteoporosis, and DMD, 1212 acute ischemic mononeuropathy Osteosclerotic myeloma (OSM) clinical presentation, 832 clinical features, 639 differential diagnosis, 832 laboratory studies, 639–640 etiology and pathogenesis, 832 pathogenesis and treatment, 640 evaluation and diagnosis, 832–833 Osteosclerotic myeloma and POEMS syndrome, 1506 prognosis, 833 Overall neuropathy limitations scale (ONLS), 304–305 treatment and management, 833 Oxaliplatin, 717 chronic limb ischemia, 834–835 compartment syndromes (CSs) clinical presentation, 827 P definition, 825 PABPN1. See Polyadenylate-binding protein nuclear 1 (PABPN1) differential diagnosis, 827 Paclitaxel, 718 etiology and pathogenesis, 826–827 Pain, sensation, 7–8, 224, 226 evaluation and diagnosis, 827–828 Pancoast syndrome, 1048 1582 Index

Paraffin embedding, 236 evaluation and diagnosis Paralysis, 1046 electromyography, 1372 Paramyotonia congenita MRI, T1-weighted sections, lower thoracic regions i, differential diagnosis, 1165 1372–1373 EDX testing, 1165 nemaline myopathy, inclusion body myositis, 1373–1374 etiology and pathogenesis, 1164 management, 1375–1376 laboratory testing, 1166 treatment, 1375–1376 management, 1166 Parasympathetic nervous system (PSNS) muscle cooling, 1165–1166 concepts, 202 prognosis, 1166 ganglia and effector organs, 202, 203 short exercise test, 1166 preganglionic and postganglionic, 202 slow inactivation role, 1164–1165 Parsonage-Turner syndrome, 1051–1052 treatment, 1166 Passive ankle dorsiflexion range-of-motion, 328 Paraneoplastic disease, ALS, 412 Pattern recognition approach, to myopathy, 1199 Paraneoplastic motor neuron disease PCR. See Polymerase chain reaction (PCR) clinical presentations, 458 Pellagra, nutritional deficiency, 684–685 etiology and pathogenesis, 457–458 Pennate muscles, 35 treatment, course, and prognosis, 458–459 Perazine, 725–726 Paraneoplastic necrotizing myopathy, 1508 Percussion myotonia, 8 Paraneoplastic neuromuscular disorders (PND) Periodic paralysis, respiratory care acute necrotizing myelopathy, 1504 primary neuromuscular disorders, 374 dermatomyositis, 1508 secondary neuromuscular disorders, 374–376 immune and cancer associations, 1501–1502 Peripheral nerve biopsy LEMS, 1508–1510 histology MND, 1503 artifacts, 239 myasthenia gravis, 1508 axonal regeneration, 241–242 paraneoplastic necrotizing myopathy, 1508 chronic axonal degeneration, 240–241 peripheral neuropathies CMT, 244 Castleman’s disease, 1506–1507 demyelination, 242–244 chronic sensorimotor neuropathy, 1504–1505 electron microscopy, 238 MGUS, 1505 familial amyloid polyneuropathies, 244–245 multiple myeloma, 1506 morphometric methods, 238 osteosclerotic myeloma and POEMS syndrome, 1506 pathologic processes, 239, 240 polyradiculoneuropathy, 1504 plastic-embedded nerve, 237–238 primary systemic amyloidosis, 1506 remyelination, 242–244 sensorimotor neuropathy with malignant monoclonal teased-fiber preparation, 238 gammopathies, 1505 Wallerian degeneration, 239–240 WM, 1505–1506 necessity, 235 PNH, 1507–1508 optimal processing, 236 PSN paraffin embedding, 236 anti-Hu antibodies, 1502 peripheral neuropathy, 235 non-cancer-related causes, 1503 Peripheral nerve disorders proprioceptive loss, 1502 diagnosis, 495, 496 radiculopathy, 1501 differential diagnosis, 497–498 SCLC, 1503 fiber types, 498–499 SPS, 1503–1504 hereditary neuropathies, 499–500 vasculitic neuropathy, 1507 laboratory studies, 501–502 Paraneoplastic sensory neuronopathy nerve and skin biopsy role, 502–503 (PSN) neuropathy, 503–504 anti-Hu antibodies, 1502 neuropathy syndrome, 500, 501 non-cancer-related causes, 1503 primarily axonal/demyelinating, 499 proprioceptive loss, 1502 spatial patterns, 495–496 radiculopathy, 1501 system, 495 SCLC, 1503 temporal profile, 499 Paraproteinemic immune polyneuropathies, 353–354 toxin exposure, 500 Paraspinous myopathies Peripheral nerve enlargement, 10 clinical presentation Peripheral nerve hyperexcitability (PNH), 1507–1508 chin-on-chest deformity, 1369, 1371 Peripheral nerve injury isolated trunk extensor weakness, 1370–1371 cellular reactions, 864 moderate isolated neck extensor, 1369–1370 classification and prognosis, 863–864 neurological conditions, 1369–1370 comparison, 864 in Parkinson’s disease, 1371–1372 electrophysiological evaluation recumbent position and forward fl?exion, axons degeneration, 866 1370–1371 EDX evaluation timing, 865–866 differential diagnosis, 1373–1375 EDX examination, 865 etiology, 1375 EMGs and MUAPs, 866 Index 1583

five degrees, 864 quality of life, 339 molecular reactions respiratory muscle exercise, 330–331 axonal regeneration, 864 severe spinal deformity, 329–330 macrophages role, 865 splinting and casting, 329 Schwann cells, 865 tracheostomy, respiratory muscle aids neuronal, 865 epidemiology, 331 patients recognition, 863 intervention objectives, 333 therapeutic interventions pathophysiology, 331 axonal growth stimulation, 868–869 patient evaluation, 332–333 lesions in continuity, 867–868 physical medicine, 331–332 nerve transection, 867 upper extremities, 328–329 surgical tools, 866–867 PIN. See Posterior interosseous neuropathy (PIN) Peripheral nerve society (PNS), 607, 608, 620 Piriformis syndrome Peripheral nerve tumors clinical presentation, 924–925 benign neural sheath tumors differential diagnosis, 925 desmoids, 972 etiology and pathogenesis, 924 ganglions and epidermoid cysts, 974 evaluation and diagnosis, 925–926 hemangiomas and hemangiopericytomas, 973–974 treatment, management and prognosis, 926 lipomas and lipohamartomas, 973 Pituitary dysfunction, muscle disorders with myoblastomas and lymphangiomas, 972–973 growth hormone excess myositis ossificans, 972 clinical presentations, 1390 neurofibromatosis 1, 971 evaluation and diagnosis, 1390–1391 neurothekeomas, 972 physiology and pathology, 1390 plexiform neurofibromas, 971–972 treatment and prognosis, 1391 schwannomas, 966–969 hypopituitarism solitary neurofibromas, 969–971 clinical presentations, evaluations, and diagnosis, 1391 vascular malformations, 974 pathology, 1391 description, 965 treatment and prognosis, 1391–1392 diagnosis, 965–966 Plant toxins, 1137 hypertrophic neuropathy, 974 Plasma exchange, and myasthenia gravis, 345, 1084 malignant neural sheath tumors, 975–977 Plasma membrane, 21–22 metastatic carcinoma, 977 Plectin deficiency, CMS, 1122 Peripheral nervous system, peripheral sensitization (PNS) Plexiform neurofibromas, 971–972 A-beta fibers, 1576 Podophyllin, 726 A-delta fibers, 1577 POEMS (polyneuropathy, organomegaly, endocrinopathy, axon injury, 1578 M protein, skin changes) syndrome, 640–641 ion channels, 1577–1578 POEMS (Crow-Fukase) syndromes, 60–61 sensitizing soup, 1577 Poliomyelitis Peripheral neuropathy characterization, 383 clinical assessment instruments clinical manifestations, 383–384 CMT neuropathy score, 304 differential diagnosis and evaluation, 384 INCAT disability scale, 304 etiology and pathogenesis, 383 neuropathy disability scale, 303–304 prevention, 385 ONLS, 304 treatment and prognosis, 384–385 floppy infant syndrome Polyadenylate-binding protein nuclear 1 (PABPN1), 1279, 1280 diagnostic approach algorithm, 1537–1538 Polyglucosan bodies, 239 Guillain-Barré syndrome, 1537 Polymerase chain reaction (PCR), 1280 hereditary motor and sensory neuropathy, 1537 Polymodal nociceptors, 223 Perirectal abscess, 1067 Polymyalgia rheumatica (PMR), 1587–1588 Pesticides, 1138 Polymyositis, treatment, 357 Pharyngeal-cervical-brachial variant, 595 Polymyositis-scleroderma overlap syndrome, autoantibody testing, 75 Phenytoin, 1024 Polyneuropathy syndromes Physical/orthopedic treatment electromyography cough flow maximization, 335–337 asymmetric axonal polyneuropathy, 147 extremity exercise, 330 demyelinating polyneuropathy, 147–148 glossopharyngeal breathing, 337 symmetric axonal polyneuropathy, 146–147 invasive ventilatory support, 338–339 IgG and IgA, 636–637 joint contractures, 327 IgM monoclonal gammopathy, MGUS lower extremities axonal neuropathies, 636 early surgery, 328 clinical presentation, 635 late surgery, 327 diagnostic studies, 635–636 stretching, 327 peripheral nerve disorders, 634 lung growth and chest-wall mobility, 333–334 treatment, 636 normal alveolar ventilation, 334–335 MGUS, 634 oximetry monitoring and feedback protocol, 337–338 MM, 639 pulmonary compliance, 333 OSM and, 639–640 1584 Index

Polyneuropathy syndromes (cont.) medical syndromes, 637 peripheral, 639 pathogenesis, 638 PSA and AL, 637–638 treatment, 638 systemic features, 640–641 Primary tumors, neoplastic disease Polyradiculoneuropathy, 412, 999 etiology, 1012 Polyradiculopathy, 998 management and prognosis, 1022–1023 causes, 999 Probable ALS, 405 compressive polyradiculopathy, 998 Prografr. See Tacrolimus electromyography, 146 Progressive bulbar palsy (PBP), 401 myelopathy, 999 Progressive muscular atrophy (PMA), 401, 449 polyradiculoneuropathy, 999 Progressive polyradiculopathy (PP), 846 Polyradiculopathy in HIV and AIDS Prolonged NMJ blockade, neuromuscular weakness, epidemiology, infectious disease 1517 etiology, 1015 Prolonged squatting, 906 management and prognosis, 1024 Protein gene product 9.5 (PGP9.5), 263 Pontocerebellar hypoplasia, 433–434 Proximal median neuropathy Porcine stress syndrome, 1149. See also Malignant anatomy, 877–878 hyperthermia (MH) clinical presentation, 878 Porphobilinogen (PBG) deaminase, 556–557 differential diagnosis, 879 Porphyria EDX testing, 879–880 clinical presentation, 555–556 entrapment syndromes diagnosis, 557 anterior interosseous nerve syndrome, 879 etiology, 556–557 pronator syndrome, 878–879 pathology and pathogenesis, 556 struthers ligament, 878, 879 treatment, 557–558 etiology and pathogenesis, 878 Positive Romberg sign, 6 management and prognosis, 880 Posterior femoral cutaneous nerve (PFCN), 941 traumatic lesions, 878 Posterior interosseous neuropathy (PIN), 889 Proximal motor neuropathy, DPN Postherpetic neuralgia (PHN), 1023, 1580 Bruns-Garland syndrome, 661 agents, 1585 clinical presentation, 662 central sensitization modulation, 1584 etiology and pathogenesis, 661 monoaminergic systems, 1583 evaluation and diagnosis, 662–663 nerve blocks, 1584–1585 prognosis, 663–664 opioids, 1582–1583 treatment and management, 663 pathophysiology, 1581 PSA. See Primary systemic amyloidosis (PSA) peripheral sensitization modulation, 1583–1584 Pseudoathetosis, 8 prevention, 1582 Pseudohypertrophy, 6 treatment regimen comparison, 1585 PSNS. See Parasympathetic nervous system (PSNS) Postmedian sternotomy plexopathy, 1047–1048 Psoas abscess, 1067 Postoperative plexopathy, 1066–1067 pSS. See Sjögren’s syndrome (pSS) Post-poliomyelitis syndrome (PPS), 460 Psychiatric disorders, SMS ALS, 411 IgG accumulation and GABA reduction, 1469, 1472 characterization, 385 reduced 11C-FMZ binding potentials, 1469, 1471 clinical manifestations, 386 Pyridostigmine, 1095 differential diagnosis and evaluation, 386–387 Pyridoxine, 726 etiology and pathogenesis, 385–386 clinical presentation, 481–482 prognosis, 389 diagnosis, 482 treatment etiology and pathogenesis, 481 fatigue management, 388 treatment and management, 482 pain management, 388 Pyruvate kinase (PK), 46–47 pharmacotherapy, 389 psychosocial issues, 388–389 weakness management, 388 Q Post-radiation motor neuron syndrome, 456–457 Quadriparesis, 10–14 PP. See Progressive polyradiculopathy (PP) Quality of life scale Prednisolone, 1096 INQoL, 310 Pregnancy McGill quality of life scale, 316 and LS plexopathy, 1066 SEIQoL, 315–316 and myasthenia gravis, 1085 short form-12, 310, 313–314 Presentation of stimulus short form-36, 310–313 method of levels, 225 sickness impact profile, 314–315 method of limits, 224–225 Quantitative sensory testing (QST) Primary sensory neuropathy, 467 automated system Primary systemic amyloidosis (PSA), 1506 presentation of stimulus, 224–225 clinical presentation, 637 subject response and threshold determination, laboratory studies, 637–638 226–228 Index 1585

clinical applications decrement and increment calculation, 140–141 central nervous system disease, 230–231 limb temperature, 139 focal peripheral neuropathy, 230 movement artifacts, 139 generalized peripheral polyneuropathy, 229–230 nerve and muscle selection, 140 in clinical neurology, 224 number of stimulations, 140 limitations of, 228–229 stimulation frequency, 140 principles, 223 submaximal stimulation, 139 SFN, 513 Respiratory care Quantitative sudomotor axon reflex test (QSART), 229, 307 acute ventilatory management, 366–368 chronic ventilatory management, 368–369 primary neuromuscular disorders R acid maltase deficiency, 374 RA. See Rheumatoid arthritis (RA) inflammatory myopathies, 372 Radial neuropathy malignant hyperthermia, 373–374 anatomy muscular dystrophy, 372–373 brachial plexus, 887 periodic paralysis, 374 elbow, 888 pulmonary function, NMD, 363–365 axilla, 889 secondary neuromuscular disorders, 374–376 clinical presentation, 888 Respiratory chain defects differential diagnosis, 890 complex I deficiency, 1322 etiology and pathogenesis, 887–888 complex III deficiency, 1322 evaluation and diagnosis, 890–891 complex IV deficiency, 1322–1323 management and prognosis, 891 Respiratory insufficiency, and LEMS, 1092 posterior interosseous neuropathy, 889 Respiratory muscles radial motor studies, 890 exercise, 330–331 spiral groove, 888–889 and myopathy, 1199, 1200 superficial radial sensory neuropathy, 889–890 Respiratory scale Radiation-induced brachial plexopathy, 1056 forced vital capacity, 308–309 Radiation plexopathy, 1068–1069 maximal inspiratory/expiratory pressures, 309 Radiculopathy. See also Cervical radiculopathy; Lumbosacral slow vital capacity, 309 and thoracic radiculopathies tidal volume, 309 acute, 989 Respiratory system, and DM, 1265–1266 chronic, 990 Restriction fragment length polymorphism (RFLP), 283 clinical neurophysiology, 986 Retrovirus-associated motor neuron disorders, 459–460 localization, 1006 Retrovirus-associated myositis lower sacral, 1008 HIV associated with myopathy severity, 990 clinical manifestations, 1429 thoracic, 1009 diagnosis and evaluation, 1429–1430 Range-of-motion (ROM), 327 etiology and pathogenesis, 1429 Rapidly adapting mechanoreceptors, 223 nemaline myopathy, 1430 Rapidly progressive quadriparesis pyomyositis, 1430 autonomic findings, 14 treatment, 1430 causes, 10–11 HTLV-1-associated myositis, 1430–1431 differential diagnosis, 12–13 Rett syndrome, 277 laboratory investigations, 14 Rhabdomyolysis sensory manifestations, 14 acute management weakness, 11 compartment syndrome, 1555 Rapsyn, CMS, 1121–1122 disseminated intravascular coagulation, 1555 Reactive disaster syndrome, 1567 hypocalcemia, 1555 Recessive forms, of LGMD, 1236 renal failure, 1554–1555 Recessive intermediate CMT (CMT RIB), 538 carbonic anhydrase III, 1548 Red yeast rice myopathy, 1410 causes, 1552–1555 Reflexes and tone, 7 classification, 1549 Refsum disease, 566 clinical presentation Regeneration clusters, 242 compartment syndrome, 1549 Remyelination, 242–244 factors, 1549 Renaut bodies, 239 muscular manifestations, 1548 Repetitive nerve stimulation (RNS) systemic disturbances, 1548 exercise testing, 138–139 definition, 1545–1546 physiology, 135–136 diagnosis of, 1554 protocol, 141 hereditary causes, 1549–1552 rapid repetitive stimulation, 137–138 muscle enzyme defects, 1549 slow repetitive stimulation, 136–137 myoglobin, 1547–1548 technical factors pathogenesis, 1546–1547 acetylcholinesterase inhibitors, 140 potassium, calcium, and phosphate, 1548 decremental response, 141 serum creatine kinase, 1548 1586 Index

Rheumatoid arthritis (RA) etiology and pathogenesis, 921–922 clinical presentation, 750 evaluation and diagnosis, 923 definition/epidemiology, 750 treatment, management and prognosis, 923–924 etiology/pathogenesis, 750 Scissoring gait, 6 evaluation and diagnostic criteria, 750–751 SCLC. See Small-cell lung cancer (SCLC) neuropathies, 752–753 SEA. See Spinal epidural abscess (SEA) treatment/prognosis, 751–752 Segmental zoster paresis (SZP), 1014 vasculitis, 750 Sensory ataxia, 6 Rheumatologic drugs, 1132 Sensory disturbances, 9–10 Riche-Cannieu anastomosis, 119–120 quantitative measurement, 10 Right scale, 288 symptoms, 9 Rippling muscle disease (RMD), 8. See also LGMD 1C Sensory NCS. See also Nerve conduction studies (NCS) diagnosis and evaluation, 1180 sensory nerve action potentials etiology and pathogenesis, 1180 amplitude, 95 treatment and prognosis, 1180 conduction velocity, 96 Rituximab (RTX), and myasthenia gravis, 348–349, 1085 duration, 95 RMD. See Rippling muscle disease (RMD) low-amplitude CMAPs, 150–151 Root avulsions, 1048–1049 onset latency, 95 Rucksack paralysis, 1045–1046 peak latency, 95–96 Ryanodine receptors (RyR), antibodies, 30, 71 sensory loss, 150 Rydel-Seiffer tuning fork, 224 study setup, 94 Sensory nerve action potentials (SNAPs), 478, 986 Sensory scales S CASE IV, 305–307 Salk vaccine, 384 nerve conduction studies, 307–308 Saphenous mononeuropathy, 937 QSART, 307 Sarcoid myopathy SEPs. See Somatosensory evoked potentials (SEPs) clinical manifestations, 1433 SERCA, 31 diagnosis and evaluation, 1433–1434 Serum electrolytes, 14 treatment, 1434–1435 Serum muscle enzymes, 1216 Sarcoid neuropathy Serum protein electrophoresis (SPEP), 634 clinical presentation, 854 SGPG. See Sulfated glucuronyl paragloboside (SGPG) etiology and pathogenesis, 854 Short form-12 (SF-12), 310, 313–314 evaluation and diagnosis, 854–855 Short form-36 (SF-36), 310–313 treatment and prognosis, 855 Short form individual quality of life measure (SEIQoL), Sarcoidosis, 1017 315–316 Sarcolemma, 29–30 Sialorrhea, 398, 417 Sarcomeres, 31–32 Sickness impact profile (SIP), 314–315 Sarcomeric diseases, 251–252 Simian hand, 17 Sarcopenia, 247 Simple tandem repeats (STR), 1267 Sarcoplasmic reticulum, 30–31 Single-fiber electromyography (SFEMG), 195 Sarcotubular myopathy, 1243 anterior horn cell disorders, 159–160 Scapular winging, 17–19 axonal stimulation method, 156 Scapuloperoneal syndrome, 434 disposable concentric needle electrodes, 155 Schmidt-Lanterman incisures, 238 impulse blockade, 154 Schwannomas jitter, 154, 155 incidence, 966 MFAP amplitude, 153 operative procedure, 967–969 MUAP amplitude, 153, 154 Schwartz-Jampel syndrome muscle disease, 161–162 clinical presentation, 1177 neuromuscular junction disorders, 158–159 differential diagnosis, 1179 peripheral nerve disease, 160–161 EDX testing, 1179 reference values etiology and pathogenesis, 1177–1179 fiber density, 157 laboratory testing, 1179 jitter measurements, 157 management and treatment, 1179 relative size and recording area, 153, 154 prognosis, 1179 stimulated SFEMG, 156 Sciatic nerve voluntary method, 156 anatomy, 919–920 Single-stranded conformational polymorphism (SSCP), 281 piriformis syndrome Sjögren’s syndrome (pSS) clinical presentation, 924–925 connective tissue diseases differential diagnosis, 925 clinical presentation, 753 etiology and pathogenesis, 924 definition/epidemiology, 753 evaluation and diagnosis, 925–926 diagnosis, 754–755 treatment, management and prognosis, 926 etiology/pathogenesis, 753 sciatic mononeuropathy, hip/thigh neuropathies, 755–758 clinical presentation, 922 treatment/prognosis, 755 differential diagnosis, 922–923 vasculitis, 754 Index 1587

Skeletal muscle laboratory testing, 1163 biopsy (see Skeletal muscle biopsy) myotonia fluctuans, 1160–1161 contraction regulation, 33 myotonia permanens, 1161 ionic composition, of mammalians, 22 prognosis, 1163 membrane excitability (see Skeletal muscle membrane treatment and management, 1163 excitability) thyrotoxic periodic paralysis, 1175 muscle fiber types, 34 Skin, and DM, 1266 sarcolemma, 29–30 Skin biopsy sarcomeres, 31–32 normal cutaneous innervation, 263–265 sarcoplasmic reticulum, 30–31 processing sliding-filament theory, 32–33 IENF and IENFD, 263 structure, 29 3-mm punch biopsy, 261–262 Skeletal muscle biopsy specimens, 262–263 histology reactions to small nerve fiber injury electron microscopy, 250, 251 degeneration, 265–266 histochemistry, 247–249 morphological changes, 267 immunohistochemistry, 249 regeneration, 267–268 light microscopy, 246–247 Slap-foot, 6 pathology SLE. See Systemic lupus erythematosus (SLE) artifacts, 254 Sleep, and DM, 1265–1266 excitation-contraction coupling disorders, 251, 252 Sliding-filament theory, 32–33 fiber size alterations, 254–258 Slow-channel syndromes, CMS, 1119, 1120 mechanical transduction disorders, 252–253 Slowly adapting mechanoreceptors, 223 myofiber degeneration and regeneration, 258–259 Slow-twitch (type I) myofibers, 247, 249 sarcomeric diseases, 251–252 Small-cell lung cancer (SCLC), 1092 processing, 245–246 Small fiber neuropathy (SFN) Skeletal muscle membrane excitability definition, 509–510 ATS (see Andersen-Tawil syndrome (ATS)) epidemiology, 510 chloride channel disorders etiology and pathogenesis, 511–512 autosomal dominant myotonia congenita, 1153 features, 509 autosomal recessive myotonia congenita, 1153–1160 investigations clinical presentation, 1153 laboratory tests, 512 clinical disorders, 1153 neurophysiologic studies, 512–513 factors contribution QST, 513 ion conductances, 1150 skin biopsy, 513 ion movements directions, 1149–1150 natural course, 511 membrane depolarization, action potential, 1152 QST, 230 potassium channel gating properties, 1151–1152 SIQ, 510–511 sodium channel gating properties, 1151 symptom presentation and clinical examination, 510 transverse tubule system, 1152–1153 thermosensory and nociceptive functions HyperPP (see Hyperkalemic periodic paralysis cold and warm fibers, 507 (HyperPP)) cold stimuli, 508 HypoPP (see Hypokalemic periodic paralysis DRG, 508, 509 (HypoPP)) TRP, 507–508 paramyotonia congenita treatments, 514 differential diagnosis, 1165 SMS. See Stiff-man syndrome (SMS) EDX testing, 1165 SNAPs. See Sensory nerve action potentials (SNAPs) etiology and pathogenesis, 1164 Sniff nasal inspiratory pressure (SNIP), 418 laboratory testing, 1166 Solitary neurofibromas, 969–971 muscle cooling, 1165–1166 Somatosensory evoked potentials (SEPs), prognosis, 1166 470, 988 short exercise test, 1166 Sphingomyelin lipidoses, 566–567 slow inactivation role, 1164–1165 Spinal accessory nerve treatment and management, 1166 clinical syndromes, 959 physiology, 1149 jugular foramen, 959–961 RMD neuroanatomy, 959 diagnosis and evaluation, 1180 Spinal accessory neuropathy etiology and pathogenesis, 1180 anatomy, 898–899 treatment and prognosis, 1180 clinical presentation, 899 Schwartz-Jampel syndrome (see Schwartz-Jampel differential diagnosis, 899 syndrome) EDX studies, 899–900 sodium channel myotonia etiology and pathogenesis, 899 acetazolamide-responsive variant, 1161 management and prognosis, 900 clinical presentation, 1160 Spinal anesthesia, complications of, 1016 differential diagnosis, 1162 Spinal arachnoiditis electrodiagnostic testing, 1162–1163 etiology, 1016–1017 etiology and pathogenesis, 1161–1162 management and prognosis, 1025 1588 Index

Spinal arteriovenous malformations, 1017 clinical presentation, 1469, 1471 Spinal cord, central sensitization (CNS) differential diagnosis, 1471 inhibitory pathway, 1580 drug-potentiating GABA-ergic transmission, 1474 long-term sensitization, 1578 evaluation and diagnosis, 1472–1473 mechanisms, 1579–1580 immunoperoxidase staining wind-up, 1578 rat brain, 1465–1467 Spinal cysts, 1017 rat pancreas, 1467 Spinal epidural abscess (SEA). See also Abscess laboratory and clinical criteria, 1473–1474 etiology, 1014–1015 pathogenesis, 1465 management and prognosis, 1023–1024 prognosis of, 1474 Spinal epidural cavernous hemangiomas, 1017 psychiatric disorders Spinal epidural lipomatosis (SEL), 1017 IgG accumulation and GABA reduction, 1469, 1472 Spinal muscular atrophies (SMAs) reduced 11C-FMZ binding potentials, 1469, 1471 ALS, 411 Stiff person syndrome (SPS) classification autoantibody testing, 73 distal, 426 PND, 1503–1504 proximal, 425 Stinger syndrome. See Burner syndrome survival motor neuron, 426 STR. See Simple tandem repeats (STR) clinical manifestations Strachan’s syndrome, nutritional deficiency, 685 type 1, 427 Subcutaneous immunoglobulin, 346 type 2, 428 Subdural spinal hematomas, 1017 type 3, 428–429 Sulfated glucuronyl paragloboside (SGPG), 60 type 4, 429 Superficial fibular mononeuropathy, 919 diagnosis and laboratory evaluation, 431 Suprascapular neuropathy differential diagnosis, 430 anatomy, 891 epidemiology, 426–427 clinical presentation, 892 management differential diagnosis, 893 gastrointestinal and nutrition, 432 etiology and pathogenesis, 892 pulmonary, 431–432 evaluation and diagnosis, 893 nonimmune-mediated lower motor neuron syndromes, 445–446 management and prognosis, 893 orthopedic care and exercise, 432–433 Sural mononeuropathy, 932–933 palliative care, 433 Suramin, 719 pathogenesis and pathology, 429–430 Surgical management, of cervical spinal disease, prevention, 430 995–996 prognosis Sympathoadrenal hyperactivity, 1490 non-survival motor neuron, 433–435 Symptomatic TN, 953–954 survival motor neuron variants, 433 Symptom inventory questionnaire (SIQ), 510–511 Spinal Muscular Atrophy Functional Rating Scale (SMAFRS), 299 Synaptosomal-associated protein (SNAP), 1102 Spinal nerves Syringomyelia, 409 and lumbosacral spine, 1001–1002 System abnormality, and DM, 1266 and thoracic spine, 1002–1004 Systemic disorders, and myopathy, 1198 Spinal stenosis, 1011–1012 Systemic lupus erythematosus (SLE) Splinting, 329 clinical presentation, 759–760 Split hand phenomenon, 397 definition/epidemiology, 758 Spondylosis, pathology of, 982–983 differential diagnosis, 760 Sprouting, 241–242 etiology/pathogenesis, 758–759 Spurling’s test, 985 neuropathies, 761–762 S1 radiculopathy, 1008 treatment/prognosis, 760–761 SSc. See Systemic sclerosis (SSc) vasculitis, 760 Staphylococcus aureus, 1014 Systemic sclerosis (SSc) Statin myopathy, 1405–1406 clinical presentation, 763–764 animal models, 1408 definition/epidemiology, 763 biomarkers, 1409 etiology/pathogenesis, 763 clinical presentation, 1406 evaluation and diagnostic criteria, 765–766 drug interactions, 1409 neuropathies, 767 epidemiology, 1406–1407 treatment/prognosis, 766–767 genetic susceptibility, 1408–1409 vasculitis, 764–765 mechanistic hypothesis, 1407 SZP. See Segmental zoster paresis (SZP) patient management, 1409–1410 Steinert’s disease, 1259–1260 Steppage gait, 6 T 4-2-1 stepping algorithms, 225–227 Tabes dorsalis, 467 Steroid myopathy, 345 Tacrolimus Stiff-man syndrome (SMS) long-term maintenance immunotherapies, 348 associated with breast cancer, 1467, 1469–1471 and myasthenia gravis, 1084 autoantibodies vs. GAD, clinical characteristics, 1467–1469 Tangier disease (TD), 562 Index 1589

Tarlov’s cysts, 1017 Thyroid disease, muscle disorders with Tarui disease acute thyrotoxic myopathy, 1386–1387 clinical presentation, 1317–1318 differential diagnosis, 1388 differential diagnosis, 1318 evaluation and diagnosis, 1388 etiology and pathogenesis, 1317 hyperthyroidism, 1386 evaluation and diagnosis, 1318 hypothyroidism lack of second wind phenomenon, 1316 clinical presentations, 1389 treatment and management, 1318 differential diagnosis, 1389 TCS. See Tethered cord syndrome (TCS) evaluation and diagnosis, 1389 Teased-fiber analysis, 236 pathology, 1388–1389 Teased-fiber preparation, normal nerve, 238 treatment and prognosis, 1390 Telethoninopathy, 1242–1243 TED, 1387 Tendon reflexes, and LEMS, 1091 thyroid hormones, 1386 TENS. See Transcutaneous electrical nerve stimulation (TENS) TPP, 1387–1388 Terminal cisternae, 30 treatment and prognosis, 1388 Tetanus Thyroid eye disease (TED), 1387 antitoxin, 1483 Thyrotoxic periodic paralysis (TPP), 1175, 1387–1388 autonomic circulatory derangement, 1484 Tibial nerve autonomic dysfunction, 1481 anatomy, 926–928 cephalic form, 1481–1482 interdigital neuropathy differential diagnosis, 1482 clinical presentation, 932 epidemiology, 1480 differential diagnosis, 932 etiology, 1479–1480 etiology and pathogenesis, 931–932 evaluation and diagnosis, 1482–1483 evaluation and diagnosis, 932 generalized form, 1481 treatment, management and prognosis, 932 general supportive measures, 1483 proximal tibial mononeuropathy, 928 incubation period, 1480–1481 sural mononeuropathy, 932–933 localized form, 1481 tarsal tunnel syndrome maternal and neonatal forms, 1481 clinical presentation, 929 neuromuscular blockade, 1483 differential diagnosis, 929–930 opisthotonos, 1481 etiology and pathogenesis, 928–929 pathogenesis, 1480 evaluation and diagnosis, 930–931 prevention treatment, management and prognosis, 931 active immunization, 1484 Tick paralysis, 1134–1135 immunization after wounds, 1484–1485 Tinel’s sign, 10 toxoid, 1485 Titin, antibodies, 32, 71 prognosis, 1485 Titinopathy, 1244 risus sardonicus, 1481 TNF-alpha antagonists, 349 sedatives and muscle relaxants, 1483 Tongue atrophy, 398 toxin, 1479 Toxic myopathies tracheostomy, ventilatory support, 1483 associated inflammatory myopathy, 1421 wound care and antibiotics, 1483 creatine kinase, 1404 Tethered cord syndrome (TCS), 1017 cyclosporine treatment, 1422 Thalidomide, 719 definition, 1403 Thallium diagnostic principles, 1403–1404 clinical presentation, 706–707 differential diagnosis, 1404 evaluation and diagnosis, 707 iron-overload myopathy, 1422 pathogenesis, 706 less common myotoxic syndromes treatment and management, 707 differential diagnosis, 1420 Thermoreceptors, 223 necrotizing agents, 1420–1421 Thoracic disc herniation lipid-lowering agents degenerative spine disease fibric acid derivatives, 1410–1411 etiology, 1012 HMG-CoA reductase inhibitors (see Statin myopathy) management and prognosis, 1022 Monascus purpureus, 1410 Thoracic radiculopathy, 971. See also Lumbosacral and thoracic necrotizing myopathies, 1403–1404 radiculopathies painful myopathy, 1422 approach, 1021 primary inflammation, 1404 causes, 1009 rhabdomyolysis, 1405 Thoracic spine, and spinal nerves, 1002–1004 solvent-induced myopathies, 1422 Thoracic spondylosis vacuolar myopathies, 1405 degenerative spine disease Toxic neuromuscular transmission disorders etiology, 1012 biological neurotoxins management and prognosis, 1022 arthropods, 1134 Thrombotic vasculopathy, 736 botulism, 1133 Thymectomy, and myasthenia gravis, 355, 1084 envenomation, 1133–1134 Thymoma, and myasthenia gravis, 1085–1086 marine toxins, 1136–1137 1590 Index

Toxic neuromuscular transmission disorders (cont.) Trichinosis plant toxins, 1137 clinical manifestations, 1435–1436 scorpion bites, 1135 diagnosis and evaluation, 1436 snakebites, 1135–1136 etiology and pathogenesis, 1435 spider bites, 1134 treatment and prognosis, 1436 tick paralysis, 1134–1135 Trigeminal nerve (TN) botulinum neurotoxin, 1132–1133 herpes virus infections, 955 characteristics, 1129 neuroanatomy, 953 clinical features, 1129 numb chin and numb cheek syndromes, 955 interferon alpha, 1132 trigeminal neuralgia, 953–955 occupational neurotoxins trigeminal sensory neuropathy, 955 heavy metals, 1137–1138 Trigeminal sensory neuropathy, 955 organophosphate and carbamate poisoning, 1138 Tropical pyomyositis. See Bacterial pyomyositis pathophysiology, 1139 Tropical spastic paraparesis, 410 pesticides, 1138 Tropomyosins, 31 war and terrorism agents, 1138–1139 Troponin, 31 pharmacological neurotoxicity, 1129–1130 Truncal radiculoneuropathies, diabetic polyneuropathy, 665–666 antibiotics, 1130 Tuberculous myositis, 1433 cardiovascular drugs, 1130–1131 Tubulin, 60 cholesterol-lowering agents, 1131 Tumor association, and LEMS, 1092 hypermagnesemia, 1131–1132 T2-weighted cerebral magnetic resonance, ALS, 406, 407 recreational drugs, 1132 Type I vs. type 2 errors, 289–290 rheumatologic drugs, 1132 Toxic neuropathies acrylamide (see Acrylamide) U arsenic (see Arsenic) Ulnar neuropathy

carbon disulfide (CS2) (see Carbon disulfide (CS2)) elbow exposure, 703 anatomy, 880–881 hexacarbons (see Hexacarbons) clinical presentation, 881–882 identification, 703–704 differential diagnosis, 882–883 lead (see Lead) EDX testing, 883 mercury (see Mercury) etiology and pathogenesis, 881 organophosphorous (OP) (see Organophosphorous (OP)) management and prognosis, 883–884 thallium (see Thallium) wrist Toxic oil syndrome (TOS) anatomy, 884 clinical presentation clinical presentation, 885 neuromuscular symptom, 1566 differential diagnosis, 885 psychological symptom, 1567 EDX testing, 885–886 pulmonary symptom, 1566 etiology and pathogenesis, 884–885 systemic thrombotic phenomena, 1567 ganglion cyst, 884 differential diagnosis, 1567 inching, 886 epidemiology, 1565 management and prognosis, 886 evaluation and diagnosis, 1567 types, 885 pathogenesis, 1565 Uncovertebral joints, 983 treatment and prognosis, 1567 Unilateral foot drop, 908 Toxoplasmosis Unstable repeat expansions (UREs), 1267 clinical manifestations, 1439 Upper motor neuron (UMN) syndrome, 396–398 diagnosis and evaluation, 1439–1440 Uremic neuropathy etiology and pathogenesis, 1439 clinical features, 693, 695 treatment and prognosis, 1440 differential diagnosis, 696 Transcutaneous electrical nerve stimulation (TENS), 994 electrophysiology, 695 Transthyretin (TTR) amyloidosis, 550 mechanism, 696 apolipoprotein-A1, 555 pathology, 695–696 diagnosis, 552, 554 treatment, 696–697 gelsolin, 555 UREs. See Unstable repeat expansions (UREs) pathogenesis endoneurium, 551–552 fibrillar, 551–552 V neurotoxicity, 552, 553 Vagus nerve treatment and prognosis, 554–555 brainstem lesions, 958–959 Transverse tubules/t-tubules, 29 extramedullary lesions, 959 Traumatic brachial plexopathies, 1057–1058 neuroanatomy, 958 Traumatic plexopathy, 1066–1067 Valacyclovir, 1023 Treponema pallidum, 1015 Valosin-containing protein (VCP), 1267 Index 1591

VAMP. See Vesicle-associated membrane protein (VAMP) Voltage-gated potassium channel (VGKC) vs. IgG, 53 Varicella zoster vaccine, 1023 von Recklinghausen disease, 971 Variegate porphyria (VP), 557 Vascular lesions, 1017 Vasculitic neuropathy (VN), treatment, 354 W Vasculitis, and LS plexopathy, 1070 Waddling gait, 6 VCP. See Valosin-containing protein (VCP) Waldenström’s macroglobulinemia (WM), 61, 1505–1506 Ventilatory failure, 588–589 Wallerian degeneration, 239–240 Vernet’s syndrome, 960 Wartenberg’s sign, 17 Vertebral hemangiomas, 1017 Weakness Vertebral metastases disability, 3 etiology, 1012–1013 distribution of, 4 management and prognosis, 1023 dropped head, 19–20 Vesicle-associated membrane protein (VAMP), 1102 foot drop, 14–16 VGCCs. See Voltage-gated calcium channels (VGCCs) hand atrophy, 17 VGKC. See Voltage-gated potassium channel (VGKC) hip and shoulder, 4 Vibration sense, 224 leg, 4 Villaret’s syndrome, 960 proximal, 3–4 Vinorelbine, 718 quadriparesis, 10–14 Viral myositis scapular winging, 17–19 clinical syndromes shoulder pain, 5 acute viral myositis, 1428–1429 Western blot analysis benign acute childhood myositis, 1428 and dystrophinopathy, 1218 epidemic benign myalgia, neck, 1429 and LGMD 2A, 1238 epidemic pleurodynia, 1428 Wound botulism, 1067. See also Botulism etiology and pathogenesis, 1427 Vitamin B6, 684 Vitamin B12 X clinical presentation, 683 Xeroderma pigmentosum (XP), 567 differential diagnosis, 683–684 X-linked bulbospinal muscular atrophy, 434–435 etiology and pathogenesis, 683 X-linked dilated cardiomyopathy. See Barth syndrome evaluation and diagnosis, 684 X-linked HSP, 451 pathological pattern, 682–683 X-linked LGMDs, 1245 treatment, 684 Barth syndrome, 1245 Vitamin E Danon’s disease, 1247 clinical features, 681 Emery-Dreifuss muscular dystrophy 1, 1246–1247 differential diagnosis, 681–682 Emery-Dreifuss muscular dystrophy 6, 1247 EDX studies, 682 X-linked recessive bulbospinal muscular atrophy, 446–447 etiology and pathogenesis, 681 observation, 680–681 treatment, 682 Z Voltage-gated calcium channels (VGCCs) Zalcitabine, 720 vs. IgG, 53 Zidovudine myopathy, 1348, 1417–1418 LEMS, 1090 Zinc finger 9 (ZNF9) gene, 1267