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Congenital myotonia

MedGen UID:
1863972
•Concept ID:
C5848362
•
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
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

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
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
Electrophysiological evaluation of congenital myotonia.
Rossi B, Siciliano G, Sartucci F
Electromyogr Clin Neurophysiol 1985 Sep-Oct;25(6):413-22. PMID: 4065028
Autosomal recessive generalized myotonia.
Sun SF, Streib EW
Muscle Nerve 1983 Feb;6(2):143-8. doi: 10.1002/mus.880060210. PMID: 6855798
Specificity of biochemical and biophysical tests in Duchenne and myotonic muscular dystrophy, carrier states, and congenital myotonia.
Roses AD, Appel SH, Butterfield DA, Miller SE, Chesnut DB
Trans Am Neurol Assoc 1975;100:131-4. PMID: 179179

Therapy

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
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
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
Electrophysiological evaluation of congenital myotonia.
Rossi B, Siciliano G, Sartucci F
Electromyogr Clin Neurophysiol 1985 Sep-Oct;25(6):413-22. PMID: 4065028

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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