Muscle Ion Channel Diseases Rehabilitation Article

Total Page:16

File Type:pdf, Size:1020Kb

Muscle Ion Channel Diseases Rehabilitation Article ISSN 1473-9348 Volume 3 Issue 1 March/April 2003 ACNR Advances in Clinical Neuroscience & Rehabilitation journal reviews • events • management topic • industry news • rehabilitation topic Review Articles: Looking at protein misfolding neurodegenerative disease through retinitis pigmentosa; Neurological complications of Behçet’s syndrome Management Topic: Muscle ion channel diseases Rehabilitation Article: Domiciliary ventilation in neuromuscular disorders - when and how? WIN BOOKS: See page 5 for details www.acnr.co.uk COPAXONE® WORKS, DAY AFTER DAY, MONTH AFTER MONTH,YEAR AFTER YEAR Disease modifying therapy for relapsing-remitting multiple sclerosis Reduces relapse rates1 Maintains efficacy in the long-term1 Unique MS specific mode of action2 Reduces disease activity and burden of disease3 Well-tolerated, encourages long-term compliance1 (glatiramer acetate) Confidence in the future COPAXONE AUTOJECT2 AVAILABLE For further information, contact Teva Pharmaceuticals Ltd Tel: 01296 719768 email: [email protected] COPAXONE® (glatiramer acetate) PRESCRIBING INFORMATION Presentation Editorial Board and contributors Glatiramer acetate 20mg powder for solution with water for injection. Indication Roger Barker is co-editor in chief of Advances in Clinical Reduction of frequency of relapses in relapsing-remitting multiple Neuroscience & Rehabilitation (ACNR), and is Honorary sclerosis in ambulatory patients who have had at least two relapses in Consultant in Neurology at The Cambridge Centre for Brain Repair. He trained in neurology at Cambridge and at the the preceding two years before initiation of therapy. National Hospital in London. His main area of research is into Dosage and administration neurodegenerative and movement disorders, in particular 20mg of glatiramer acetate in 1 ml water for injection, administered sub- parkinson's and Huntington's disease. He is also the university cutaneously once daily. Initiation to be supervised by neurologist or lecturer in Neurology at Cambridge where he continues to develop his clinical experienced physician. Supervise first self-injection and for 30 minutes after. research into these diseases along with his basic research into brain repair using Children neural transplants. Not recommended under 18 years of age. Alasdair Coles is co-editor of ACNR and contributes our Elderly Anatomy Primer.He is a Wellcome Advanced Fellow working on No specific data. experimental immunological therapies in multiple sclerosis, Impaired renal function based at the Dunn School of Pathology in Oxford and No specific studies. Monitor renal function during treatment. Department of Neurology in Cambridge. Consider possibility of deposition of immune complexes. Contra-indications Stephen Kirker is the editor of the Rehabilitation section of Known allergy to glatiramer acetate or mannitol (excipient). Pregnancy. ACNR and Consultant in Rehabilitation Medicine in Special warnings and precautions Addenbrooke's NHS Trust, Cambridge. He graduated from Sub-cutaneous use only. One or more of vasodilatation, chest pain, Trinity College, Dublin in 1985 and trained in neurology in dyspnoea, palpitations or tachycardia may occur within minutes after Dublin, London and Edinburgh before moving to rehabilitation in injection. These generally resolve spontaneously after a short time. If Cambridge and Norwich. His main research has been into pos- severe, treat symptomatically. Caution in patients with pre-existing tural responses after stroke. His particular interests are in pros- thetics, orthotics, gait training and neurorehabilitation. cardiac disorders. Review such patients regularly. Rarely convulsions and/or anaphylactic or allergic reactions. Rarely, hypersensitivity David J Burn is the editor of our conference news section (bronchospasm, anaphylaxis or urticaria). If severe, treat appropriate- and Consultant and Senior Lecturer in Neurology at the ly and discontinue Copaxone. Regional Neurosciences Centre, Newcastle upon Tyne. He Interactions qualified from Oxford University and Newcastle upon Tyne Medical School in 1985. His MD was in the functional imaging No formal evaluation. Increased incidence of injection-site reactions of parkinsonism. He runs Movement Disorders clinics in with concurrent corticosteroids. Theoretical potential to affect distri- Newcastle upon Tyne and Sunderland. Research interests bution of protein-bound drugs, therefore concomitant use of these include progressive supranuclear palsy and dementia with Lewy bodies. He is should be monitored. also involved in several drugs studies for Parkinson's Disease. Pregnancy and lactation Andrew Larner is the editor of our Book Review Section. He Not to be used in pregnancy. Consider contraceptive cover. No data is a Consultant Neurologist at the Walton Centre for on excretion in human milk. Neurology and Neurosurgery in Liverpool, with a particular Undesirable effects interest in dementia and cognitive disorders. He is also an Injection-site reactions (particularly erythema, hypersensitivity, pain, Honorary Apothecaries' Lecturer in the History of Medicine at mass, pruritus, inflammation, oedema) are common and usually mild. the University of Liverpool. An immediate post-injection reaction (one or more of vasodilatation, Wojtek Rakowicz is a Specialist Registrar in Neurology.After chest pain, dyspnoea, palpitation, tachycardia) was reported at least once training in Norwich and Cambridge he worked in the in controlled trials by 41% on Copaxone and 20% on placebo. Other Neuromuscular Division at Washington University in St Louis. reactions reported from clinical trials with a frequency greater than He is currently at the National Hospital for Neurology and 1 in 10 include flu-like syndrome, asthenia, back pain, headache, Neurosurgery. constipation, diarrhoea, nausea, arthralgia, anxiety, depression, dizziness, hypertonia, rash and sweating. Rarely, anaphylactoid or allergic reactions and convulsions. Rarely shifts in white blood cell counts and elevated Alastair Wilkins is Specialist Registrar in Neurology in East Anglia. He trained in Cambridge, Sheffield and London, and has levels of liver enzymes, no evidence of clinical significance. just finished a PhD investigating potential mechanisms of axon Overdose loss in multiple sclerosis. Monitor, treat symptomatically. Pharmaceutical Precautions Store Copaxone in refrigerator (2°C to 8°C). May store in refrigerator after reconstitution for up to eight hours. Legal Category: i Package Quantity and Basic NHS Cost 28 vials of Copaxone plus 28 ampoules of water for injection: £510.14. Copaxone administration package, including syringes and needles A World Conference on living with learning difficulties supplied free of charge. Edinburgh International Conference Centre Edinburgh Scotland Product Licence Number 10921/0019 2nd & 3rd April 2003 Further Information www.mind-field.org Further medical information available on request from Aventis Pharma Limited, 50 Kings Hill Avenue, Kings Hill, West Malling, Kent, ME19 A conference designed for parents, teachers, experts – and especially to improve the 4AH. Other enquiries to: Teva Pharmaceuticals Limited, Barclays House, prospects of the 4-5 children in every class who have some form of learning difficulty. 1 Gatehouse Way, Aylesbury, Bucks, HP19 8DB. Fee deliberately low for parents and teachers (£50) and Date of Review: December 2001. even lower for students. Other professionals £195 plus VAT. Date of Preparation: August 2002. For more info contact Mindfield References: E-mail: [email protected] 1. Johnson KP et al. Multiple Sclerosis 2000; 6: 255-266. Telephone: 0131-653-6235 2. Neuhaus O et al. Neurology 2001; 56: 702-708. Web: www.mind-field.org 3. Comi CG et al. Annals Neurology 2001; 49(3): 290-297. ACNR • VOLUME 3 NUMBER 1 MARCH/APRIL 2003 3 ADJUNCTIVE THERAPY FOR PARTIAL SEIZURES IN ADULTS WITH EPILEPSY CONFIDENCE. BY KEPPRA. ADD-ON THERAPY STARTS WITH CONNECTING EFFICACY WITH TOLERABILITY IN AN EASY-TO-USE AED1 KEPPRA® Prescribing Information: daily did not affect the pharmacokinetics of oral contraceptives (ethinyl-estradiol and levonorgestrel). Levetiracetam Please read Summary of Product Characteristics (SPC) before prescribing. 2,000 mg daily did not affect the pharmacokinetics of digoxin and warfarin and prothrombin times were not mod- Presentation: Keppra 250, 500 and 1,000 mg film-coated tablets containing 250, 500 and 1,000 mg levetiracetam ified. Pregnancy and lactation: Should not be used during pregnancy unless clearly necessary. Breast-feeding respectively. Uses: Adjunctive therapy in the treatment of partial onset seizures with or without secondary gener- not recommended. Driving, etc: Caution recommended when performing skilled tasks, e.g. driving vehicles or alisation in patients with epilepsy. Dosage and administration: Adults and adolescents older than 16 years: The operating machinery. Undesirable effects: Incidence of undesirable effects considered to be at least possibly initial therapeutic dose is 500 mg twice daily which can be started on the first day of treatment. Depending upon related in controlled clinical studies: Very common (>10%): asthenia, somnolence. Common (between 1%-10%): GI clinical response and tolerability can be increased up to 1,500 mg twice daily. Dose changes can be made in 500 disturbances, anorexia, accidental injury, headache, dizziness, tremor, ataxia, convulsion, amnesia, emotional mg twice daily increments or decrements every two to four weeks. Elderly: Adjustment of the dose is recom- lability,
Recommended publications
  • Spectrum of CLCN1 Mutations in Patients with Myotonia Congenita in Northern Scandinavia
    European Journal of Human Genetics (2001) 9, 903 ± 909 ã 2001 Nature Publishing Group All rights reserved 1018-4813/01 $15.00 www.nature.com/ejhg ARTICLE Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia Chen Sun*,1, Lisbeth Tranebjñrg*,1, Torberg Torbergsen2,GoÈsta Holmgren3 and Marijke Van Ghelue1,4 1Department of Medical Genetics, University Hospital of Tromsù, Tromsù, Norway; 2Department of Neurology, University Hospital of Tromsù, Tromsù, Norway; 3Department of Clinical Genetics, University Hospital of UmeaÊ, UmeaÊ,Sweden;4Department of Biochemistry, Section Molecular Biology, University of Tromsù, Tromsù, Norway Myotonia congenita is a non-dystrophic muscle disorder affecting the excitability of the skeletal muscle membrane. It can be inherited either as an autosomal dominant (Thomsen's myotonia) or an autosomal recessive (Becker's myotonia) trait. Both types are characterised by myotonia (muscle stiffness) and muscular hypertrophy, and are caused by mutations in the muscle chloride channel gene, CLCN1. At least 50 different CLCN1 mutations have been described worldwide, but in many studies only about half of the patients showed mutations in CLCN1. Limitations in the mutation detection methods and genetic heterogeneity might be explanations. In the current study, we sequenced the entire CLCN1 gene in 15 Northern Norwegian and three Northern Swedish MC families. Our data show a high prevalence of myotonia congenita in Northern Norway similar to Northern Finland, but with a much higher degree of mutation heterogeneity. In total, eight different mutations and three polymorphisms (T87T, D718D, and P727L) were detected. Three mutations (F287S, A331T, and 2284+5C4T) were novel while the others (IVS1+3A4T, 979G4A, F413C, A531V, and R894X) have been reported previously.
    [Show full text]
  • Difference in Allelic Expression of the CLCN1 Gene and the Possible Influence on the Myotonia Congenita Phenotype
    European Journal of Human Genetics (2004) 12, 738–743 & 2004 Nature Publishing Group All rights reserved 1018-4813/04 $30.00 www.nature.com/ejhg ARTICLE Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype Morten Dun1*, Eskild Colding-Jrgensen2, Morten Grunnet3,5, Thomas Jespersen3, John Vissing4 and Marianne Schwartz1 1Department of Clinical Genetics, 4062, University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark; 2Department of Clinical Neurophysiology 3063,University Hospital, Rigshospitalet, Blegdamsvej 9, DK- 2100 Copenhagen, Denmark; 3Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen N, Denmark; 4Department of Neurology and The Copenhagen Muscle Research Center, University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Mutations in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC). The recessive form, Becker’s myotonia, is believed to be caused by two loss-of-function mutations, whereas the dominant form, Thomsen’s myotonia, is assumed to be a consequence of a dominant-negative effect. However, a subset of CLCN1 mutations can cause both recessive and dominant MC. We have identified two recessive and two dominant MC families segregating the common R894X mutation. Real-time quantitative RT-PCR did not reveal any obvious association between the total CLCN1 mRNA level in muscle and the mode of inheritance, but the dominant family with the most severe phenotype expressed twice the expected amount of the R894X mRNA allele. Variation in allelic expression has not previously been described for CLCN1, and our finding suggests that allelic variation may be an important modifier of disease progression in myotonia congenita.
    [Show full text]
  • Skeletal Muscle Channelopathies: a Guide to Diagnosis and Management
    Review Pract Neurol: first published as 10.1136/practneurol-2020-002576 on 9 February 2021. Downloaded from Skeletal muscle channelopathies: a guide to diagnosis and management Emma Matthews ,1,2 Sarah Holmes,3 Doreen Fialho2,3,4 1Atkinson- Morley ABSTRACT in the case of myotonia may be precipi- Neuromuscular Centre, St Skeletal muscle channelopathies are a group tated by sudden or initial movement, George's University Hospitals NHS Foundation Trust, London, of rare episodic genetic disorders comprising leading to falls and injury. Symptoms are UK the periodic paralyses and the non- dystrophic also exacerbated by prolonged rest, espe- 2 Department of Neuromuscular myotonias. They may cause significant morbidity, cially after preceding physical activity, and Diseases, UCL, Institute of limit vocational opportunities, be socially changes in environmental temperature.4 Neurology, London, UK 3Queen Square Centre for embarrassing, and sometimes are associated Leg muscle myotonia can cause particular Neuromuscular Diseases, with sudden cardiac death. The diagnosis is problems on public transport, with falls National Hospital for Neurology often hampered by symptoms that patients may caused by the vehicle stopping abruptly and Neurosurgery, London, UK 4Department of Clinical find difficult to describe, a normal examination or missing a destination through being Neurophysiology, King's College in the absence of symptoms, and the need unable to rise and exit quickly enough. Hospital NHS Foundation Trust, to interpret numerous tests that may be These difficulties can limit independence, London, UK normal or abnormal. However, the symptoms social activity, choice of employment Correspondence to respond very well to holistic management and (based on ability both to travel to the Dr Emma Matthews, Atkinson- pharmacological treatment, with great benefit to location and to perform certain tasks) and Morley Neuromuscular Centre, quality of life.
    [Show full text]
  • Severe Infantile Hyperkalaemic Periodic Paralysis And
    1339 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.74.9.1339 on 21 August 2003. Downloaded from SHORT REPORT Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A F Brancati, E M Valente, N P Davies, A Sarkozy, M G Sweeney, M LoMonaco, A Pizzuti, M G Hanna, B Dallapiccola ............................................................................................................................. J Neurol Neurosurg Psychiatry 2003;74:1339–1341 the face and hand muscles, and paradoxical myotonia. Onset The authors describe an Italian kindred with nine individu- of paramyotonia is usually at birth.2 als affected by hyperkalaemic periodic paralysis associ- HyperPP/PMC shows characteristics of both hyperPP and ated with paramyotonia congenita (hyperPP/PMC). PMC with varying degrees of overlap and has been reported in Periodic paralysis was particularly severe, with several association with eight mutations in SCN4A gene (I693T, episodes a day lasting for hours. The onset of episodes T704M, A1156T, T1313M, M1360V, M1370V, R1448C, was unusually early, beginning in the first year of life and M1592V).3–9 While T704M is an important cause of isolated persisting into adult life. The paralytic episodes were hyperPP, this mutation has been only recently described in a refractory to treatment. Patients described minimal single hyperPP/PMC family. As with other SCN4A mutations, paramyotonia, mainly of the eyelids and hands. All there can be marked intrafamilial and interfamilial variability affected family members carried the threonine to in paralytic attack frequency and severity in patients harbour- methionine substitution at codon 704 (T704M) in exon 13 ing T704M.10–12 We report an Italian kindred, in which all of the skeletal muscle voltage gated sodium channel gene patients presented with an unusually severe and homogene- (SCN4A).
    [Show full text]
  • Hypokalemic Periodic Paralysis in Graves' Disease
    대한외과학회지:제62권 제4호 □ Case Report □ Vol. 62, No. 4, April, 2002 Hypokalemic Periodic Paralysis in Graves' Disease Department of Surgery, St. Vincent's Hospital and 1Holy Family Hospital, The Catholic University of Korea, Suwon, Korea Young-Jin Suh, M.D., Wook Kim, M.D.1 and Chung-Soo Chun, M.D. clude hypokalemic and hyperkalemic periodic paralysis, para- 그레이브스씨병에서 발생한 저칼륨성 주기 myotonia congenita, and myotonia congenita. Primary hypo- 적 마비증 kalemic periodic paralysis (HPP) is a rare entity first described by Shakanowitch in 1882, (1) and is an autosomal dominant 서영진․김 욱․전정수 disease. We hereby report a case of HPP in a male adult, successfully managed by total thyroidectomy for his Graves' Thyrotoxic hypokalemic periodic paralysis is a rare endocrine disease and hypokalemic periodic paralysis. disorder, most prevalent among Asians, which presents as proximal muscle weakness, hypokalemia, and with signs of CASE REPORT hyperthyroidism from various etiologies. It is an autosomal dominant disorder characterized by acute and recurrent episodes of muscle weakness concomitant with a decrease A 30-year-old male patient presented with complaints of in blood potassium levels below the reference range, lasting recurrent attacks of quadriparesis especially after vigorous from hours to days, and is often triggered by physical activity exercises for the last 5 years, which had been started 2 months or ingestion of carbohydrates. Although hypokalemic periodic after the diagnosis of and medications for Graves' disease. He paralysis is a common complication of hyperthyroidism had taken medications of methimazole (15 mg/day) and among Asian populations, it has never been documented propylthiouracil (50 mg/day) initially but discontinued medica- since in Korea.
    [Show full text]
  • Muscle Channelopathies
    Muscle Channelopathies Stanley Iyadurai, MSc PhD MD Assistant Professor of Neurology, Neuromuscular Specialist, OSU, Columbus, OH August 28, 2015 24 F 9 M 18 M 23 F 16 M 8/10 Occasional “Paralytic “Seizures at “Can’t Release Headaches Gait Problems Episodes” Night” Grip” Nausea Few Seconds Few Hours “Parasomnia” “Worse in Winter” Vomiting Debilitating Few Days Full Recovery Full Recovery Video EEG Exercise – Light- Worse Sound- 1-2x/month 1-2x/year Pelvic Red Lobster Thrusting 1-2x/day 3-4/year Dad? Dad? 1-2x/year Dad? Sister Normal Exam Normal Exam Normal Exam Normal Exam Hyporeflexia Normal Exam “Defined Muscles” Photophobia Hyper-reflexia Phonophobia Migraines Episodic Ataxia Hypo Per Paralysis ADNFLE PMC CHANNELOPATHIES DEFINITION Channelopathy: a disease caused by dysfunction of ion channels; either inherited (Mendelian) or acquired/complex (Non-Mendelian, e.g., autoimmune), presenting either in neurologic or non-neurologic fashion CHANNELOPATHY SPECTRUM CHARACTERISTICS Paroxysmal Episodic Intermittent/Fluctuating Bouts/Attacks Between Attacks Patients are Usually Completely Normal Triggers – Hunger, Fatigue, Emotions, Stress, Exercise, Diet, Temperature, or Hormones Muscle Myotonic Disorders Periodic Paralysis MUSCLE CHANNELOPATHIES Malignant Hyperthermia CNS Migraine Episodic Ataxia Generalized Epilepsy with Febrile Seizures Plus Hereditary & Peripheral nerve Acquired Erythromelalgia Congenital Insensitivity to Pain Neuromyotonia NMJ Congenital Myasthenic Syndromes Myasthenia Gravis Lambert-Eaton MS Cardiac Congenital
    [Show full text]
  • New Territory Opened by Periodic Paralysis Associated with Mitochondrial DNA Mutation
    EDITORIAL New territory opened by periodic paralysis associated with mitochondrial DNA mutation Robert L. Ruff, MD, PhD Science is an exploration of knowledge. Early world indirectly altered. In the previously discussed disor- Stephen Cannon, MD, maps did not recognize large land masses until some- ders of skeletal membrane excitability, including PhD one first observed them. The report by Auré et al.1 periodic paralysis, the pathophysiology could be describes new territory in the field of periodic paral- explained by direct alterations of the operations of ysis and other disorders of skeletal muscle membrane mutated ion channels. Episodes of periodic paralysis Correspondence to excitability. The muscle membrane has to balance on resulted from membrane depolarization that was a Dr. Ruff: [email protected] a knife edge between excessive excitability manifest by direct consequence of altered channel function. Auré conditions such as myotonia, and inexcitability, as et al.1 did not find any of the previously recognized – Neurology® 2013;81:1806–1807 occurs intermittently in periodic paralysis.2 4 Under- channelopathy mutations associated with periodic standing disorders of altered muscle membrane excit- paralysis. Instead, they found consistent mutations of ability is important because the knowledge gained mitochondrial DNA. They identified the MT-ATP6 leads to increased understanding of how excitable m.9185T.C p.Leu220Pro mutation that was previ- membranes function and may suggest ways of treat- ously associated with Leigh syndrome. In addition, ing membrane disorders that can involve many tis- they also discovered the MT-TL1 m.3271T.Cmuta- sues, including brain, peripheral nerve, and skeletal tion that caused MELAS (mitochondrial encephalop- and cardiac muscle.
    [Show full text]
  • Changes of Resurgent Na Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia
    International Journal of Molecular Sciences Article + Changes of Resurgent Na Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia Chiung-Wei Huang 1, Hsing-Jung Lai 2,3 , Pi-Chen Lin 4 and Ming-Jen Lee 2,5,* 1 Institute of Physiology, Kaohsiung Medical University, Kaohsiung 80708, Taiwan; [email protected] 2 Department of Neurology, National Taiwan University Hospital, Taipei 10051, Taiwan 3 Department of Neurology, National Taiwan University Hospital Jinshan Branch, New Taipei City 20844, Taiwan; [email protected] 4 Division of Endocrinology and Metabolism, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 80708, Taiwan; [email protected] 5 Department of Neurology, National Taiwan University Hospital Yunlin Branch, Yunlin 10051, Taiwan * Correspondence: [email protected]; Tel.: +88-62-2312-3456 (ext. 65342) Received: 4 March 2020; Accepted: 6 April 2020; Published: 8 April 2020 Abstract: Myotonia congenita (MC) is a rare disorder characterized by stiffness and weakness of the limb and trunk muscles. Mutations in the SCN4A gene encoding the alpha-subunit of the voltage-gated sodium channel Nav1.4 have been reported to be responsible for sodium channel myotonia (SCM). The Nav1.4 channel is expressed in skeletal muscles, and its related channelopathies affect skeletal muscle excitability, which can manifest as SCM, paramyotonia and periodic paralysis. In this study, the missense mutation p.V445M was identified in two individual families with MC. To determine the functional consequences of having a mutated Nav1.4 channel, whole-cell patch-clamp recording of transfected Chinese hamster ovary cells was performed.
    [Show full text]
  • Neuromuscular Disease with Abnormal Movement.Pdf
    Neuromuscular disease with abnormal 11/30/17 movement Cramp • Episodic and involuntary muscle contraction • Associated with pain Neuromuscular disease with abnormal movement • Occur in shorten position and contracting muscle • Motor neuron hyperactivity causing sustained muscle spasm Charungthai Dejthevaporn, MD, PhD, FRCP(T), FRSM • Preceded by fasciculations or muscle twitching du to repetitive Consultant Neurologist, Department of Medicine contractions of motor units Head of Clinical Neurophysiology Unit, EMG Laboratory and • High freQuency discharge (20-150 Hz) on EMG Neuromuscular Clinic Section, Queen Sirikit Medical Center Faculty of Medicine, Ramathibbodi Hospital Mahidol University, Bangkok, Thailand Classification of Cramp Classification of Cramp • Paraphysiological cramp • Idiopathic • occur in healthy person related to specific physiology circumstances • Sporadic • pregnancy or eXercise • Cramp-fasciculation syndrome • hypereXcitability of nerve terminal branches due to continued muscle use • Myokymia-hyperhydrosis syndrome • Inherited • Familial nocturnal cramps Classification of Cramp Classification of Cramp • Symptomatic cramp • Symptomatic cramp • CNS : • Multiple sclerosis, Parkinson’s disease • Hydroelectrolyte disturbances • hypo-Mg++ • PNS : • dehydration • motor neuron disease, neuropathy, radiculopathy, pleXopathy, • Heat cramp, perspiration myopathy • hyper-hypo Na+, K+, Ca++ • Cardiovascular disease • Endocrine-metabolic condition • arterial or venous disease • hypo- hyperthyroid • hypo-hyperparathyroidism • Toxic/medication
    [Show full text]
  • Clinical Study of Paramyotonia Congenita with and Without Myotonia
    Fourteen patients with paramyotonia congenita were examined clinically. Patients of 3 families had no myotonia in a warm environment while in a cold environment they developed paradoxical myotonia (myotonia aggra- vated by repeated muscle contraction). Patients of a 4th family had myotonia associated with after-activity in a warm environment which was not paradoxical. This myotonia was aggravated by cooling. In a warm envi- ronment the resting muscles of all patients showed no spontaneous elec- tromyographic activity except for occasional myotonic runs. On cooling, spontaneous fibrillations developed. This was most intense at 3TC-28"C (muscle temperature). On deeper cooling it ceased. In contrast, 5 patients with myotonia congenita did not show such activity during cooling. In all paramyotonic patients cooling (3O0C-25"C) produced muscle paralysis, which outlasted rewarming by several hours. At 3TC-30"C muscle relaxa- tion was slowed. Recording of electromyographic activity and isometric contractions of the long finger flexors during cooling revealed that the slowing of muscle relaxation in paramyotonia is not as closely linked to after-activity as is the slowing of muscle relaxation in myotonia congenita. MUSCLE & NERVE 4:388-395 1981 CLINICAL STUDY OF PARAMYOTONIA CONGENITA WITH AND WITHOUT MYOTONIA ANTON HAASS, MD, KENNETH RICKER, MD, REINHARDT RUDEL, PhD, FRANK LEHMANN-HORN, MD, REINHARD BdHLEN, MD, REINHARD DENGLER, MD, and HANS GEORG MERTENS. MD Paramyotonia congenita, a rare muscle disease The diagnosis of paramyotonia congenita is transmitted by an autosomally dominant gene, was complicated by the fact that paradoxical myotonia originally described by Eulenburg.' Beckel-',* ex- has not been found in all patients with amined 157 paramyotonic patients in West Ger- paramyotonia.
    [Show full text]
  • Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms
    1 Skeletal muscle channelopathies: rare disorders with common pediatric symptoms Emma Matthews MRCP1, Arpana Silwal MRCPCH2, Richa Sud PhD3, Michael. G. Hanna FRCP1, Adnan Y Manzur FRCPCH2, Francesco Muntoni FRCPCH2 and Pinki Munot MRCPCH2 1 MRC Centre for Neuromuscular Diseases, UCL and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK 2 Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, WC1N 1EH, UK 3Neurogenetics Unit, Institute of Neurology, Queen Square, London, UK This research was supported by the National Institute for Health Research, and the Medical Research Council. E.M. is funded by a postdoctoral fellowship from the National Institute for Health Research Rare disease Translational Research Collaboration. M.G.H is supported by a Medical Research Council Centre grant, the UCLH Biomedical Research Centre, the National Centre for Research Resources, and the National Highly Specialised Service (HSS) Department of Health UK. F.M. is supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. The authors confirm no conflicts of interest. There was no study sponsor. The authors wrote the first draft of the manuscript and no honorarium, grant, or other form of payment was given to anyone to produce the manuscript. Corresponding author: Emma Matthews [email protected] MRC Centre for Neuromuscular Diseases, Box 102, UCL and NHNN, Queen Square, London, WC1N 3BG, UK 2 Tel: +44 203 108 7513 Fax: +44 203 448 3633 Key words: myotonia, periodic paralysis, cramps, gait, strabismus Short title: Pediatric skeletal muscle channelopathies 3 Abstract Objective: To ascertain the presenting symptoms of children with skeletal muscle channelopathies in order to promote early diagnosis and treatment.
    [Show full text]
  • PDF File for Your Own Personal Use
    I am pleased to provide you complimentary one-time access to my article as a PDF file for your own personal use. Any further/multiple distribution, publication or commercial usage of this copyrighted material would require submission of a permission request to the publisher. Timothy M. Miller, MD, PhD Correlating phenotype and genotype in the periodic paralyses T.M. Miller, MD, PhD; M.R. Dias da Silva, MD, PhD; H.A. Miller, BS; H. Kwiecinski, MD, PhD; J.R. Mendell, MD; R. Tawil, MD; P. McManis, MD; R.C. Griggs, MD; C. Angelini, MD; S. Servidei, MD; J. Petajan, MD, PhD; M.C. Dalakas, MD; L.P.W. Ranum, PhD; Y.H. Fu, PhD; and L.J. Ptáek, MD Abstract—Background: Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease. Objective: To analyze the clinical phenotype of patients with and without discernible genotype and to identify other mutations in ion channel genes associated with disease. Methods: The authors have reviewed clinical data in patients with a diagnosis of hypokalemic periodic paralysis (56 kindreds, 71 patients), hyperkalemic periodic paralysis (47 kindreds, 99 patients), and paramyotonia congenita (24 kindreds, 56 patients). For those patients without one of the classically known mutations, the authors analyzed the entire coding region of the SCN4A, KCNE3, and KCNJ2 genes and portions of the coding region of the CACNA1S gene in order to identify new mutations. Results: Mutations were identified in approximately two thirds of kindreds with periodic paralysis or paramyotonia congenita.
    [Show full text]