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Episodic ataxia type 5

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Description

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 (or chromosome locus) in which pathogenic variants occur.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

129

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Genes

External Links

  • OMIM

    613855

  • Orphanet

    211067

  • HPO
  • Medgen

    C1866039

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