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Potassium-aggravated myotonia

Disease definition

A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.

ORPHA:612

Classification level: Group of disorders
  • Synonym(s):
    • K+-aggravated myotonia
    • K-aggravated myotonia
    • PAM
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G71.1
  • OMIM: 608390
  • UMLS: C0856123  C2931826
  • MeSH: C538353
  • GARD: 4459
  • MedDRA: -

Detailed information

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