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Paramyotonia congenita of Von Eulenburg

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).

ORPHA:684

  • Synonym(s):
    • Paramyotonia congenita
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G71.1
  • OMIM: 168300
  • UMLS: C1868617
  • MeSH: C538616
  • GARD: 7325
  • MedDRA: -

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