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Familial paroxysmal ataxia

Disease definition

Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.

ORPHA:97

Classification level: Disorder
  • Synonym(s):
    • Episodic ataxia type 2
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G11.8
  • OMIM: 108500
  • UMLS: C1720416
  • MeSH: -
  • GARD: 9602
  • MedDRA: -

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