" /> Myotonia, potassium-aggravated - CISMeF





Preferred Label : Myotonia, potassium-aggravated;

CISMeF acronym : SNEL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myotonia fluctuans; Myotonia permanens; Sodium channel muscle disease; Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical;

Included titles and symbols : Laryngospasm, severe neonatal episodic; SNEL;

Description : In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the type IV, voltage-gated sodium channel, alpha-subunit gene (SCN4A, 603967.0009);

Laboratory abnormalities : Serum creatine kinase may be increased;

Prefixed ID : #608390;

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27/07/2025


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