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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).


Classification level: Disorder
  • Synonym(s):
    • Paramyotonia congenita
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G71.1
  • OMIM: 168300
  • UMLS: C0221055  C1868617
  • MeSH: C538616
  • GARD: 7325
  • MedDRA: -

Detailed information

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