GTR Home > Conditions/Phenotypes > Episodic ataxia, type 3

Disease characteristics

Excerpted from the GeneReview: Hereditary Ataxia Overview
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene in which causative mutations occur or chromosomal locus.

Clinical features

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  • Tinnitus
  • Muscle weakness
  • Nausea
  • Headache
  • Vomiting
  • Diplopia
  • Episodic ataxia
  • Vertigo
  • Myokymia
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