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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
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
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
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
New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene.
Fusco C, Frattini D, Salerno GG, Canali E, Bernasconi P, Maggi L
Brain Dev 2015 Oct;37(9):891-3. Epub 2015 Feb 27 doi: 10.1016/j.braindev.2015.02.004. PMID: 25735906
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
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
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

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