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Paramyotonia congenita of Von Eulenburg

Synonym(s) Paramyotonia congenita
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Adolescent
  • G71.1
  • C1868617
  • C538616
MedDRA -


Disease definition

Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).

Expert reviewer(s)

  • Pr Bertrand FONTAINE

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