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Journal Articles Muscle & nerve. Supplement. Year : 2020

Guidelines on clinical presentation and management of nondystrophic myotonias

Abstract

The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present.
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Dates and versions

hal-03461673 , version 1 (01-12-2021)

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Bas C Stunnenberg, Samantha Lorusso, W. David David Arnold, Richard J Barohn, Stephen C Cannon, et al.. Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle & nerve. Supplement., 2020, 62 (4), pp.430 - 444. ⟨10.1002/mus.26887⟩. ⟨hal-03461673⟩
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