U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital myotonia

MedGen UID:
976912
•Concept ID:
CN295225
•
Disease or Syndrome
Related genes: LIFR, IL6ST, HSPG2, CLCN1
 
Orphanet: ORPHA206973

Professional guidelines

PubMed

Treatment of congenital myotonia with sodium selenite and vitamin E.
Bäckman E, Henriksson KG
J Intern Med 1992 Oct;232(4):376-7. PMID: 1328462
Repetitive nerve stimulation in the differential diagnosis of congenital myotonia.
Rossi B, Rossi A, Sartucci F
Ital J Neurol Sci 1984 Dec;5(4):385-90. doi: 10.1007/BF02042621. PMID: 6530361

Recent clinical studies

Etiology

Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.
Franklin JP, Cooper-Knock J, Baheerathan A, Moll T, Männikkö R, Heverin M, Hardiman O, Shaw PJ, Hanna MG
Amyotroph Lateral Scler Frontotemporal Degener 2020 Nov;21(7-8):627-630. Epub 2020 Jul 3 doi: 10.1080/21678421.2020.1786128. PMID: 32619119
Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.
Özgün N, Taşlıdere H
Turk J Pediatr 2020;62(3):450-460. doi: 10.24953/turkjped.2020.03.012. PMID: 32558419
Myotonia congenita: quantitation of different aspects of motor performance.
Baumann P, Vanharanta H, Kauranen K, Myllylä V
Eur Neurol 1995;35(4):206-11. doi: 10.1159/000117129. PMID: 7671980
Activities of some antioxidative and hexose monophosphate shunt enzymes of skeletal muscle in neuromuscular diseases.
Myllylä V, Kihlström M, Takala TE, Tolonen U, Salminen A, Vihko V
Acta Neurol Scand 1986 Jul;74(1):17-24. doi: 10.1111/j.1600-0404.1986.tb04619.x. PMID: 3532684
Recessive congenital myotonia and pregnancy.
Schwartz IL, Dingfelder JR, O'Tuama L, Swift M
Int J Gynaecol Obstet 1979 Sep-Oct;17(2):194-6. doi: 10.1002/j.1879-3479.1979.tb00147.x. PMID: 41769

Diagnosis

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
Landim JID, Ribeiro IS, Oliveira EB, Freitas HC, Brito LA, Maia IHM, Távora DGF, Rodrigues CL
BMC Neurol 2023 Apr 27;23(1):171. doi: 10.1186/s12883-023-03195-6. PMID: 37106355Free PMC Article
Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.
Özgün N, Taşlıdere H
Turk J Pediatr 2020;62(3):450-460. doi: 10.24953/turkjped.2020.03.012. PMID: 32558419
Intracellular β-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel.
Bennetts B, Yu Y, Chen TY, Parker MW
J Biol Chem 2012 Jul 27;287(31):25808-20. Epub 2012 Jun 11 doi: 10.1074/jbc.M111.327551. PMID: 22689570Free PMC Article
Voltage-sensitive ion channels and cancer.
Fiske JL, Fomin VP, Brown ML, Duncan RL, Sikes RA
Cancer Metastasis Rev 2006 Sep;25(3):493-500. doi: 10.1007/s10555-006-9017-z. PMID: 17111226
Repetitive nerve stimulation in the differential diagnosis of congenital myotonia.
Rossi B, Rossi A, Sartucci F
Ital J Neurol Sci 1984 Dec;5(4):385-90. doi: 10.1007/BF02042621. PMID: 6530361

Therapy

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B
Neurology 2007 Nov 13;69(20):1937-41. doi: 10.1212/01.wnl.0000290831.08585.2c. PMID: 17998485
State-dependent block of wild-type and inactivation-deficient Na+ channels by flecainide.
Wang GK, Russell C, Wang SY
J Gen Physiol 2003 Sep;122(3):365-74. Epub 2003 Aug 11 doi: 10.1085/jgp.200308857. PMID: 12913091Free PMC Article
Myotonia congenita: quantitation of different aspects of motor performance.
Baumann P, Vanharanta H, Kauranen K, Myllylä V
Eur Neurol 1995;35(4):206-11. doi: 10.1159/000117129. PMID: 7671980
Successful treatment with tocainide of recessive generalized congenital myotonia.
Streib EW
Ann Neurol 1986 May;19(5):501-4. doi: 10.1002/ana.410190515. PMID: 3087270
Clinical and electrophysiological observations in patients with myotonic muscle disease and the therapeutic effect of N-propyl-ajmalin.
Birnberger KL, Rüdel R, Struppler A
J Neurol 1975 Sep 1;210(2):99-110. doi: 10.1007/BF00316381. PMID: 51920

Prognosis

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.
Souza LS, Calyjur P, Ribeiro AF Jr, Gurgel-Giannetti J, Pavanello RCM, Zatz M, Vainzof M
J Mol Neurosci 2021 Nov;71(11):2275-2280. Epub 2021 Jan 19 doi: 10.1007/s12031-020-01785-4. PMID: 33464536
Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia.
Fernández E, Latasiewicz M, Pelegrin L, Romera M, Schellini S, Galindo-Ferreiro A
Arq Bras Oftalmol 2017 Sep-Oct;80(5):330-331. doi: 10.5935/0004-2749.20170081. PMID: 29160548
Intracellular β-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel.
Bennetts B, Yu Y, Chen TY, Parker MW
J Biol Chem 2012 Jul 27;287(31):25808-20. Epub 2012 Jun 11 doi: 10.1074/jbc.M111.327551. PMID: 22689570Free PMC Article
Repetitive nerve stimulation in the differential diagnosis of congenital myotonia.
Rossi B, Rossi A, Sartucci F
Ital J Neurol Sci 1984 Dec;5(4):385-90. doi: 10.1007/BF02042621. PMID: 6530361

Clinical prediction guides

Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.
Özgün N, Taşlıdere H
Turk J Pediatr 2020;62(3):450-460. doi: 10.24953/turkjped.2020.03.012. PMID: 32558419
Chronic muscle stimulation improves muscle function and reverts the abnormal surface EMG pattern in myotonic dystrophy: a pilot study.
Chisari C, Bertolucci F, Dalise S, Rossi B
J Neuroeng Rehabil 2013 Aug 12;10:94. doi: 10.1186/1743-0003-10-94. PMID: 23938156Free PMC Article
Intracellular β-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel.
Bennetts B, Yu Y, Chen TY, Parker MW
J Biol Chem 2012 Jul 27;287(31):25808-20. Epub 2012 Jun 11 doi: 10.1074/jbc.M111.327551. PMID: 22689570Free PMC Article
A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B
Neurology 2007 Nov 13;69(20):1937-41. doi: 10.1212/01.wnl.0000290831.08585.2c. PMID: 17998485
Clinical and electrophysiological observations in patients with myotonic muscle disease and the therapeutic effect of N-propyl-ajmalin.
Birnberger KL, Rüdel R, Struppler A
J Neurol 1975 Sep 1;210(2):99-110. doi: 10.1007/BF00316381. PMID: 51920

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...