DOCSLIB.ORG

General Disease Finder 455

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
General Disease Finder 455 453 General disease finder 455 This overview will help to find neuromuscular disease patterns in the different sections Cushing‘s disease: steroid myopathy Adrenal dysfunction Addison’s disease: general muscle weakness Periodic paralysis Aldosteronism Tetanic muscles CN: VII AIDS Polyneuropathies: inflammatory, immune mediated, treatment related Myopathies: inflammatory, treatment related Neoplastic: Lymphoma (direct invasion) Opportunistic infections: CMV, Toxoplasmosis, Cryptococcus, HSV, Candida, Varicella, Histoplasma, TBC, Aspergillus CMV polyradiculomyelopathy Herpes zoster radiculitis Syphilitic radiculopathy Treatment related: polyneuropathy/myopathy Ddl, ddC, Foscarnet, Isoniazid Zidovudine Polyneuropathy (distal, rarely proximal, rare ulcers) Alcoholism Mononeuropathy-radial nerve (compression) Myopathy Acute necrotizing myopathy and myoglobinuria Chronic proximal weakness Hypokalemic paralysis Myoglobinuria Compartment syndromes (prolonged compression) Familial amyloid polyneuropathies Amyloid Transthyretin Sensorimotor neuropathy Autonomic involvement Apolipoprotein A-1 Polyneuropathy, painful, hearing loss Gelsolin type V, VII and other CN Mild polyneuropathy Primary amyloidosis (AL) Deposition of immunoglobulin light chains in tissue 456 Painful neuropathy Autonomic involvement Carpal tunnel syndrome Muscle amyloid Amyloidoma (trigeminal root) Secondary or reactive amyloidosis (AA) Chronic inflammatory diseases, rheumatoid diseases, osteomyelitis Deposition of acute phase plasma protein, serum amyloid A: polyneuropathy not significant Anemia Cobalamin deficiency, vitamin B12 polyneuropathy Lead poisoning polyneuropathy Thalassemia: muscle cramps, myalgia, muscle atrophy Pure red cell anemia: autoimmune disease associated with myasthenia gravis Anesthesia Regional: Epidural or spinal anesthesia may cause cauda equina lesions Malpositioning Upper extremity (70%): Mononeuropathies of brachial, radial, ulnar, or median nerves Lower extremity (30%): Mononeuropathies of peroneal, sciatic, or femoral nerves Cardiac bypass operations: nerve stretch, hypothermia, phrenic nerve lesions Tourniquet palsy Neuromuscular transmission disorders induced by muscle relaxants Angiography Peripheral: Axillary or femoral artery puncture (brachial plexus and femoral nerve) Brachial artery: median nerve Cerebral angiography: femoral nerve lesions Anorexia nervosa Myopathy Polyneuropahty Asthma Acute ICU steroid myopathy (status asthmaticus) Steroid myopathy Entrapment neuropathies and compression (ulnar, peroneal nerves) Churg Strauss syndrome Auditory nerve Hearing loss: Refsum’s disease, Cockayne Syndrome, mitochondrial disorders, vasculitis, some types of amyloidosis and hereditary neuropathies Bone marrow CIDP transplantation Inflammatory myopathies MG Polyneuropathy 457 Facial nerve lower branch Carotid surgery Hypoglossal nerve Vagal recurrent nerve Cranial nerves (meningeal carcinomatosis, base of the skull metastasis) Cancer Mononeuropathies (pressure, toxic, following operations) Radiculopathies (meningeal carcinomatosis, compression or infiltration of roots, multiple spinal metastasis), cauda equina syndrome Polyneuropathies (treatment related and paraneoplastic, rarely infiltrative) Myopathies: cachexia, dermatomyositis/polymyositis, necrotizing, neuromyo- tonia Neuromuscular transmission: MG and thymoma, LEMS and (lung) cancer Antineoplastic treatment associated polyneuropathy: Cisplatinum (Carboplatin, Oxaliplatin) Podophyllin derivatives Procarbazine Taxanes Suramin Vinca alkaloids Radiation: Plexopathies (brachial, lumbar, sacral) Paraneoplastic disease Cranial nerve: Optic nerve Polyneuropathies (all types) LEMS Muscle: inflammatory and necrotizing myopathies Aortic disease: Circulatory disorders – Left recurrent laryngeal nerve palsy – Femoral nerve lesion (ruptured aneurysm, aortic surgery) – Obturator nerve: hematoma in psoas muscle – Radiculopathies: compression of L4,5 and S1, 2 by terminal aorta – Ischemic monomelic: predominately sensory with causaglia like pain Cholesterol lowering drugs: Myopathy, cramps (Fenofibrate, benzafibrate, clofibrate, gemfibrozil, nico- tinic acid lovastatin, simvastatin, pravastatin) Embolism-compartment syndrome Intermittent claudication Ischemic neuropathy, angiopathic neuropathies Muscle hemorrhage: hemophiliacs, anticoagulants: retroperitoneal, buttock, arm, calf Neuropathy by fistula- hemodialysis Monomelic neuropathy Nerve compression by hematoma (femoral nerve, lumbar plexus, sciatic nerve) 458 Temporary aortic occlusion (surgery) Venous occlusion-phlegmasia cerulea dolens Coma Cranial nerve lesions Critical illness myopathies Critical illness neuropathy Mononeuropathies (malpositioning) Steroid myopathy Thick filament myopathy Complications of medical Hip and joint surgery: sciatic, femoral nerve lesions and surgical treatment Hypothermia: polyneuropathy Injection into nerves: Mononeuropathies Nerve blockade Intramuscular injections Knee surgery: peroneal nerve, ramus infrapatellaris Mononeuropathies due to body position: plexus, radial, ulnar, median, pero- neal, femoral nerve lesions Muscle: Drug induced myopathy: acute hypokalemic paralysis, necrotizing myopathy, subacute and chronic myopathies, ischemic injury during surgery Neuromuscular transmission: drug induced MG Neuromuscular blocking agents Postoperatively: GBS, postoperative apnea, malignant hyperthermia Radiation: Spinal cord and nerve plexus (brachial, lumbar and sacral plexus) mononeuro- pathies Spinal anesthesia: nerve roots, epidural hemorrhage, paraplegia, sensory loss, adhesive arachnoiditis Surgical trauma: neck surgery, mastectomy, (thoracodorsal, long thoracic, axil- lary nerve), median sternotomy, pelvic surgery (sciatic, obturator, femoral, ilioinguinal, iliohypogastric nerve) Tourniquet paralysis Diabetes mellitus Autonomic neuropathy Cranial mononeuropathies Mononeuropathies Muscle infarction Plexopathy Polyneuropathy; several distinct types Thoracic (truncal) radicular lesions Immobilization Disuse myopathy Mononeuropathies: pressure palsies 459 Heroin: nerve compression (coma), trauma from injection, brachial and lum- Drugs and addiction bosacral plexopathies Phenylcyclidine: rhabdomyolysis Cocaine: rhabdomyolysis Hypercalcemia: muscle weakness Electrolyte disorders Hypocalcemia: tetany Hypokalemic paralysis Hypokalemic myopathy Hyperkalemia: potassium retaining diuretics Hypermagnesemia muscle weakness Hypomagnesemia muscle weakness Hypernatremia: muscle weakness Churg Strauss syndrome Eosinophilic syndromes Eosinophilic fasciitis Eosinophilic polymyositis Eosinophilia myalgia syndromes Acute abdomen: porphyria, lead poisoning-polyneuropathy Gastrointestinal disorders Chronic diarrhea: malabsorption neuropathies, Whipple’s disease, celiac dis- ease Celiac disease: myopathy Crohn’s disease: polymyositis Compartment syndromes Ischemia/peripheral Polyneuropathy vascular occlusive Hepatic disease GBS Hepatitis Primary biliary cirrhosis: myopathy, neuropathy Polymyositis Polyneuropathy (hepatitis B, C) Panarteritis nodosa (hepatitis B) Demyelinating polyneuropathy Biliary cirrhosis Sensory polyneuropathy Hepatic myelopathy Acquired hepatocerebral degeneration Polyneuropathy Chronic liver disease Hemophilia: Hematologic diseases Nerve compression (femoral nerve, hemorrhage into iliac muscle) Ulnar nerve compression Median nerve, radial nerve, sciatic nerve, peroneal nerve Thrombocytopenia: Rarely affects peripheral nerves 460 Complications of anticoagulation: Brachial plexus lesions Median nerve Femoral nerve Obturator nerve Sciatic nerve Polyneuropathy: POEMS syndrome Castleman’s syndrome Waldenstrom’s macroglobulinemia Lymphoma, HIV Hyperuricemia Median nerve mononeuropathy Polyneuropathy Radiculopathy Hypnotic drugs Polyneuropathies: Amitryptiline Gluthethimide Imipramine Li+ carbonate Metaqualone Perazine Phenelzine Thalidomide Immunization Influenza, swine flu: GBS Mumps: sensorineural deafness Oral polio: GBS Macrophagic microfasciitis (hepatitis A,B, tetanus) Toxoids: Diphtheria/tetanus: GBS Hemophilus influenzae: GBS Plasma derived hepatitis B: GBS Infections Bacterial meningitis: cranial nerve lesions Hepatitis: A: GBS B: GBS, periarteritis nodosa C: Polyneuropathy (vasculitis) Herpes zoster: Cranial nerves: ophthalmic, trigeminal, Ramsay Hunt syndrome Postherpetic neuralgia Leprosy: Leprous neuritis Lepromatous leprosy: Skin, superficial nerves 461 Sensory loss (cool areas) Ulnar: proximal to ulnar groove Median: proximal to carpal tunnel Peroneal nerve Tuberculoid: Mixed nerve near the tubercle Ulnar, median, peroneal, facial nerve Enlarged superficial cutaneous, radial nerve Digital, sural nerves Lyme disease: Cranial nerves: VII (possibly bilateral) Radiculoneuritis (Garin-Bujadoux-Bannwarth syndrome) Polyneuropathy (unclear) Root involvement Truncal muscle weakness Neurosyphilis: Cranial nerves: pupillary abnormality Tabes dorsalis (“Lightning pain”) Posterior nerve root, ataxia, bladder and sexual dysfunction Tuberculosis: Cranial nerves (meningitis): VI, III, IV Retrobulbar with Myelitis Tuberculous arachnoiditis: radiculomyelopathy Tuberculomas Typhoid fever: multifocal neuropathy Parasitic infections: Amebic meningoencephalitis: olfactory nerve, smell Angiostrongyliasis: radiculomyeloneuritis Eosinophilic meningitis: cranial neuropathies, paresthesias Onchocerciasis: blindness Paragonimus: optic atrophy Poliomyelitis: Muscle weakness Laryngeal and pharyngeal Facial diplegia “Postpolio syndrome” Trichinosis-muscle, respiration, and cardial and skeletal muscles Viral meningitis:
Load more

Recommended publications
  • Increased Nuchal Translucency Precision Panel
    Increased Nuchal Translucency Precision Panel Overview Increased Nuchal Translucency (NT) is defined as an abnormal accumulation of fluid in the nuchal area, which is visualized as a thickened sonolucent area. It is a standardized measure obtained between 11 and 14 weeks of gestation to calculate the risk of a fetus being affected by a chromosomal aneuploidy. NT>3.5mm has been found to be associated with fetal chromosomal abnormalities and single-gene disorders as well as cardiac defects and other structural abnormalities in euploid and aneuploid fetuses. Proportionally as NT increases, even with a normal karyotype, there is a higher risk of adverse pregnancy outcomes such as miscarriage, intrauterine death, congenital heart defects and numerous other structural and genetic syndromes. There is not one single cause of increased NT, it is based on a complex and multifactorial process, linked to one or more embryonic processes. It has been shown that a persistently increased NT with a normal karyotype and aCGH has a 4-10% probability of being associated to Noonan Syndrome and/or other RASopathies using Whole Exome Sequencing (WES). However, the general tendency following detection of isolated enlarged NT in an euploid fetus is that most babies with normal detailed ultrasound examination and echocardiography will have uneventful outcomes. The Igenomix Increased Nuchal Translucency Precision Panel can be used to make a directed and accurate prenatal differential diagnosis of increased nuchal translucency in patients with or without a normal karyotype ultimately leading to a better management and prognosis of the associated comorbidities. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
    [Show full text]
  • Statin Myopathy: a Common Dilemma Not Reflected in Clinical Trials
    REVIEW CME EDUCATIONAL OBJECTIVE: Readers will assess possible statin-induced myopathy in their patients on statins CREDIT GENARO FERNANDEZ, MD ERICA S. SPATZ, MD CHARLES JABLECKI, MD PAUL S. PHILLIPS, MD Internal Medicine Residency Program, Robert Wood Johnson Clinical Scholars Department of Neurosciences, University Director, Interventional Cardiology, The University of Utah, Salt Lake City Program, Cardiovascular Disease Fellow, of California San Diego, La Jolla Department of Cardiology, Scripps Mercy Yale University School of Medicine, New Hospital, San Diego, CA Haven, CT Statin myopathy: A common dilemma not reflected in clinical trials ■■ ABSTRACT hen a patient taking a statin complains Wof muscle aches, is he or she experiencing Although statins are remarkably effective, they are still statin-induced myopathy or some other prob- underprescribed because of concerns about muscle toxic- lem? Should statin therapy be discontinued? Statins have proven efficacy in preventing ity. We review the aspects of statin myopathy that are 1 important to the primary care physician and provide a heart attacks and death, and they are the most guide for evaluating patients on statins who present with widely prescribed drugs worldwide. Neverthe- less, they remain underused, with only 50% of muscle complaints. We outline the differential diagnosis, those who would benefit from being on a statin the risks and benefits of statin therapy in patients with receiving one.2,3 In addition, at least 25% of possible toxicity, and the subsequent treatment options. adults who start taking statins stop taking them 4 ■■ by 6 months, and up to 60% stop by 2 years. KEY POINTS Patient and physician fears about myopathy There is little consensus on the definition of statin-in- remain a key reason for stopping.
    [Show full text]
  • (12) Patent Application Publication (10) Pub. No.: US 2007/0254315 A1 Cox Et Al
    US 20070254315A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2007/0254315 A1 Cox et al. (43) Pub. Date: Nov. 1, 2007 (54) SCREENING FOR NEUROTOXIC AMINO (60) Provisional application No. 60/494.686, filed on Aug. ACID ASSOCATED WITH NEUROLOGICAL 12, 2003. DSORDERS Publication Classification (75) Inventors: Paul A. Cox, Provo, UT (US); Sandra A. Banack, Fullerton, CA (US); Susan (51) Int. Cl. J. Murch, Cambridge (CA) GOIN 33/566 (2006.01) GOIN 33/567 (2006.01) Correspondence Address: (52) U.S. Cl. ............................................................ 435/721 PILLSBURY WINTHROP SHAW PITTMAN LLP (57) ABSTRACT ATTENTION: DOCKETING DEPARTMENT Methods for screening for neurological disorders are dis P.O BOX 105OO closed. Specifically, methods are disclosed for screening for McLean, VA 22102 (US) neurological disorders in a Subject by analyzing a tissue sample obtained from the subject for the presence of (73) Assignee: THE INSTITUTE FOR ETHNO elevated levels of neurotoxic amino acids or neurotoxic MEDICINE, Provo, UT derivatives thereof associated with neurological disorders. In particular, methods are disclosed for diagnosing a neu (21) Appl. No.: 11/760,668 rological disorder in a subject, or predicting the likelihood of developing a neurological disorder in a Subject, by deter (22) Filed: Jun. 8, 2007 mining the levels of B-N-methylamino-L-alanine (BMAA) Related U.S. Application Data in a tissue sample obtained from the subject. Methods for screening for environmental factors associated with neuro (63) Continuation of application No. 10/731,411, filed on logical disorders are disclosed. Methods for inhibiting, treat Dec. 8, 2003, now Pat. No. 7,256,002.
    [Show full text]
  • Peripheral Neuropathy in Complex Inherited Diseases: an Approach To
    PERIPHERAL NEUROPATHY IN COMPLEX INHERITED DISEASES: AN APPROACH TO DIAGNOSIS Rossor AM1*, Carr AS1*, Devine H1, Chandrashekar H2, Pelayo-Negro AL1, Pareyson D3, Shy ME4, Scherer SS5, Reilly MM1. 1. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 2. Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 3. Unit of Neurological Rare Diseases of Adulthood, Carlo Besta Neurological Institute IRCCS Foundation, Milan, Italy. 4. Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA 5. Department of Neurology, University of Pennsylvania, Philadelphia, PA 19014, USA. * These authors contributed equally to this work Corresponding author: Mary M Reilly Address: MRC Centre for Neuromuscular Diseases, 8-11 Queen Square, London, WC1N 3BG, UK. Email: [email protected] Telephone: 0044 (0) 203 456 7890 Word count: 4825 ABSTRACT Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy e.g. spasticity, the type of neuropathy, and the other neurological and non- neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories - 1) ataxia, 2) spasticity, and 3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy e.g.
    [Show full text]
  • Case Vignettes
    “Doc, DO I Have Neuropathy?” Case Vignettes Susan, 50 Gwenn, 32 John, 52 Sally, 42 DM – 12 yrs Hypothyroidism No PMH No PMH B/N/T – 2 yrs N/T at night B/N/T – 6 days B/N/T – few months 3 months Stanley Jones P. Iyadurai, MSc, PhD, MD Hands, Hands, Arms Hands, Feet Assistant Professor of Neurology Feet Right hand Feet, Legs Burning Pain Neuromuscular Division, Department of Neurology Arms, Difficulty Pain Pain The Ohio State University Wexner Medical Center Legs Opening jars Breathing Redness Imbalance Normal gait Imbalance Normal Strength “Neuropathy” - Definition Neuropathy - General Theme • Symmetric • “Neuron” and “Pathos” (Greek) • Insidious • More prominent distally and starts in • Disease of the Peripheral Nerve legs • Involves both motor and sensory • Dysfunction of the nerves outside of components the central nervous system • May cause pain • May cause loss of balance • Progressive, but not debilitating 1 Not all that tingles is Classification - Functional neuropathy ‘numbness and tingling’ • Motor – affects the motor nerves Weakness • not all numbness and tingling is • Sensory peripheral nerve ‒ Pain • RLS ‒ Small Fiber ‒ Large Fiber • edema ‒ Large and Small Fiber • deconditioning ‒ Neuronopathy (ganglionopathy) • central nervous system • Autonomic • Sweating Changes, Blood Pressure Changes • nerve root [‘sciatica’] Classification – Time-course Classification – Time-course • Acute Immune-mediated • Congenital/Hereditary • Infantile Weakness • Childhood-onset • Acquired • Relapsing ‒ Reversible? • Hereditary ‒ Demyelinating?
    [Show full text]
  • POEMS Syndrome: an Atypical Presentation with Chronic Diarrhoea and Asthenia
    European Journal of Case Reports in Internal Medicine POEMS Syndrome: an Atypical Presentation with Chronic Diarrhoea and Asthenia Joana Alves Vaz1, Lilia Frada2, Maria Manuela Soares1, Alberto Mello e Silva1 1 Department of Internal Medicine, Egas Moniz Hospital, Lisbon, Portugal 2 Department of Gynecology and Obstetrics, Espirito Santo Hospital, Evora, Portugal Doi: 10.12890/2019_001241 - European Journal of Case Reports in Internal Medicine - © EFIM 2019 Received: 28/07/2019 Accepted: 13/11/2019 Published: 16/12/2019 How to cite this article: Alves Vaz J, Frada L, Soares MM, Mello e Silva A. POEMS syndrome: an atypical presentation with chronic diarrhoea and astenia. EJCRIM 2019;7: doi:10.12890/2019_001241. Conflicts of Interests: The Authors declare that there are no competing interest This article is licensed under a Commons Attribution Non-Commercial 4.0 License ABSTRACT POEMS syndrome is a rare paraneoplastic condition associated with polyneuropathy, organomegaly, monoclonal gammopathy, endocrine and skin changes. We report a case of a man with Castleman disease and monoclonal gammopathy, with a history of chronic diarrhoea and asthenia. Gastrointestinal involvement in POEMS syndrome is not frequently referred to in the literature and its physiopathology is not fully understood. Diagnostic criteria were met during hospitalization but considering the patient’s overall health condition, therapeutic options were limited. Current treatment for POEMS syndrome depends on the management of the underlying plasma cell disorder. This report outlines the importance of a thorough review of systems and a physical examination to allow an attempted diagnosis and appropriate treatment. LEARNING POINTS • POEMS syndrome should be suspected in the presence of peripheral polyneuropathy associated with monoclonal gammopathy; diagnostic workup is challenging and delay in treatment is very common.
    [Show full text]
  • Ataxia with Loss of Purkinje Cells in a Mouse Model for Refsum Disease
    Ataxia with loss of Purkinje cells in a mouse model for Refsum disease Sacha Ferdinandussea,1,2, Anna W. M. Zomerb,1, Jasper C. Komena, Christina E. van den Brinkb, Melissa Thanosa, Frank P. T. Hamersc, Ronald J. A. Wandersa,d, Paul T. van der Saagb, Bwee Tien Poll-Thed, and Pedro Britesa Academic Medical Center, Departments of aClinical Chemistry (Laboratory of Genetic Metabolic Diseases) and dPediatrics, Emma’s Children Hospital, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; bHubrecht Institute, Royal Netherlands Academy of Arts and Sciences 3584 CT Utrecht, The Netherlands; and cRehabilitation Hospital ‘‘De Hoogstraat’’ Rudolf Magnus Institute of Neuroscience, 3584 CG Utrecht, The Netherlands Edited by P. Borst, The Netherlands Cancer Institute, Amsterdam, The Netherlands, and approved October 3, 2008 (received for review June 23, 2008) Refsum disease is caused by a deficiency of phytanoyl-CoA hy- Clinically, Refsum disease is characterized by cerebellar droxylase (PHYH), the first enzyme of the peroxisomal ␣-oxidation ataxia, polyneuropathy, and progressive retinitis pigmentosa, system, resulting in the accumulation of the branched-chain fatty culminating in blindness, (1, 3). The age of onset of the symptoms acid phytanic acid. The main clinical symptoms are polyneuropathy, can vary from early childhood to the third or fourth decade of cerebellar ataxia, and retinitis pigmentosa. To study the patho- life. No treatment is available for patients with Refsum disease, genesis of Refsum disease, we generated and characterized a Phyh but they benefit from a low phytanic acid diet. Phytanic acid is knockout mouse. We studied the pathological effects of phytanic derived from dietary sources only, specifically from the chloro- acid accumulation in Phyh؊/؊ mice fed a diet supplemented with phyll component phytol.
    [Show full text]
  • ICD9 & ICD10 Neuromuscular Codes
    ICD-9-CM and ICD-10-CM NEUROMUSCULAR DIAGNOSIS CODES ICD-9-CM ICD-10-CM Focal Neuropathy Mononeuropathy G56.00 Carpal tunnel syndrome, unspecified Carpal tunnel syndrome 354.00 G56.00 upper limb Other lesions of median nerve, Other median nerve lesion 354.10 G56.10 unspecified upper limb Lesion of ulnar nerve, unspecified Lesion of ulnar nerve 354.20 G56.20 upper limb Lesion of radial nerve, unspecified Lesion of radial nerve 354.30 G56.30 upper limb Lesion of sciatic nerve, unspecified Sciatic nerve lesion (Piriformis syndrome) 355.00 G57.00 lower limb Meralgia paresthetica, unspecified Meralgia paresthetica 355.10 G57.10 lower limb Lesion of lateral popiteal nerve, Peroneal nerve (lesion of lateral popiteal nerve) 355.30 G57.30 unspecified lower limb Tarsal tunnel syndrome, unspecified Tarsal tunnel syndrome 355.50 G57.50 lower limb Plexus Brachial plexus lesion 353.00 Brachial plexus disorders G54.0 Brachial neuralgia (or radiculitis NOS) 723.40 Radiculopathy, cervical region M54.12 Radiculopathy, cervicothoracic region M54.13 Thoracic outlet syndrome (Thoracic root Thoracic root disorders, not elsewhere 353.00 G54.3 lesions, not elsewhere classified) classified Lumbosacral plexus lesion 353.10 Lumbosacral plexus disorders G54.1 Neuralgic amyotrophy 353.50 Neuralgic amyotrophy G54.5 Root Cervical radiculopathy (Intervertebral disc Cervical disc disorder with myelopathy, 722.71 M50.00 disorder with myelopathy, cervical region) unspecified cervical region Lumbosacral root lesions (Degeneration of Other intervertebral disc degeneration,
    [Show full text]
  • SUPPLEMENTARY MATERIAL Supplementary 1. International
    SUPPLEMENTARY MATERIAL Supplementary 1. International Myositis Classification Criteria Project Steering Committee Supplementary 2. Pilot study Supplementary 3. International Myositis Classification Criteria Project questionnaire Supplementary 4. Glossary and definitions for the International Myositis Classification Criteria Project questionnaire Supplementary 5. Adult comparator cases in the International Myositis Classification Criteria Project dataset Supplementary 6. Juvenile comparator cases in the International Myositis Classification Criteria Project dataset Supplementary 7. Validation cohort from the Euromyositis register Supplementary 8. Validation cohort from the Juvenile dermatomyositis cohort biomarker study and repository (UK and Ireland) 1 Supplementary 1. International Myositis Classification Criteria Project Steering Committee Name Affiliation Lars Alfredsson Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden Anthony A Amato Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, Boston, USA Richard J Barohn Department of Neurology, University of Kansas Medical Center, Kansas City, USA Matteo Bottai Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden Matthew H Liang Division of Rheumatology, Immunology and Allergy, Brigham and Women´s Hospital, Boston, USA Ingrid E Lundberg (Project Director) Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Solna, Karolinska Institutet, Stockholm, Sweden Frederick W Miller Environmental
    [Show full text]
  • Orphanet Report Series Rare Diseases Collection
    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
    [Show full text]
  • Come to Your Senses: Atypical Polyneuropathy
    Come To Your Senses: Atypical Polyneuropathy Damian Campbell, DO; Joshua Lovell, DO; Krishna Pokala, MD; Yessar Hussain, MD The University of Texas at Austin, Department of Neurology, Dell Medical School Clinical History Workup Diagnosis and Discussion Pathophysiology 35 year old female was referred to the neurology clinic for evaluation of an Electrodiagnostics Our patients clinical history and genetic testing results were consistent and There is a great deal of variability in the presentation of symptoms; as there is abnormal gait. She reported slow but progressive changes in her gait over the she was diagnosed with PHARC: Polyneuropathy, Hearing Loss, Ataxia, variability amongst the gene mutations leading to inactive ABHD12. Despite the course of the last ten years. Her changes ranged from a sense of feeling off- Nerve Conductions Retinitis Pigmentosa, Cataracts. variability that exists within gene mutations, it is posited that all of the balanced to shooting pain down each leg She felt that her pain originated in her Distal Latency Peak Amplitude Conduction Velocity homozygous mutations result in complete loss-of-function of the ABHD12 low back and radiated posteriorly down each leg without any accompanying Latency (m/sec) PHARC was first described by Fiskerstrand et al in 2008.(1) At that time they enzyme. Reduction in ABHD12 results in increased levels of endocannabinoid Right Median CMAP 4.3 7.8 numbness, weakness, or bowel and bladder involvement. Of significance is her were attempting to genetically characterize a neurological disorder that arachidonoyl glycerol 2-AG, which has important functions in synaptic plasticity 11.6 5.8 26 resembled Refsum disease in a Norwegian family.
    [Show full text]
  • Retinitis Pigmentosa, Ataxia, and Peripheral Neuropathy
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.46.3.206 on 1 March 1983. Downloaded from Journal of Neurology, Neurosurgery, and Psychiatry 1983;46:206-213 Retinitis pigmentosa, ataxia, and peripheral neuropathy RR TUCK, JG McLEOD From the Department ofMedicine, University ofSydney, Australia SUMMARY The clinical features of four patients with retinitis pigmentosa, ataxia and peripheral neuropathy but with no increase in serum phytanic acid are reported. Three patients also had sensorineural deafness and radiological evidence of cerebellar atrophy. Nerve conduction studies revealed abnormalities of sensory conduction and normal or only mild slowing of motor conduc- tion velocity. Sural nerve biopsy demonstrated a reduction in the density of myelinated fibres. There were no onion bulb formations. These cases clinically resemble Refsum's disease, but differ in having no detectable biochemical abnormality, and a peripheral neuropathy which is not hypertrophic in type. They may represent unusual cases of spinocerebellar degeneration. Retinitis pigmentosa occurs infrequently as an iso- (WAIS). He had a speech impediment but was not dysar- Protected by copyright. lated finding in otherwise healthy individuals and thric. He was of short stature, had a small head and pes families. Its association with deafness, with or with- cavus but no kyphoscoliosis. His visual acuity in the right eye was 6/60 while in the left he could count fingers only. out other neurological abnormalities is much less The right visual field was constricted but the left could not common but nevertheless well recognised.1 In be tested. The optic discs were pale, the retinal vessels heredopathia atactica polyneuritiformis (Refsum's small in diameter and throughout the retinae there was disease), abetalipoproteinaemia, and the Keams- scattered "bone corpuscle" pigmentation.
    [Show full text]