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Paramyotonia congenita of Von Eulenburg

Disease definition

A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia.


Classification level: Disorder
  • Synonym(s):
    • Paramyotonia congenita
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Adolescent, Childhood, Neonatal
  • ICD-10: G71.1
  • ICD-11: 8C74.0
  • OMIM: 168300
  • UMLS: C0221055
  • MeSH: -
  • GARD: 7325
  • MedDRA: 10088318

Detailed information

General public


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