Spinocerebellar ataxia 2

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Disease Overview

Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulthood. SCA2 is caused by mutations in the ATXN2 gene and is inherited in an autosomal dominant manner.[1209][7490]


Synonyms

  • SCA 2
  • Spinocerebellar ataxia type 2
  • Spinocerebellar atrophy 2
  • Spinocerebellar ataxia Cuban type
  • Olivopontocerebellar atrophy 2
  • Spinocerebellar ataxia with slow eye movements
  • Wadia Swami syndrome
  • Spinocerebellar degeneration with slow eye movements
  • SDSEM
  • Olivopontocerebellar atrophy Holguin type

For more information, visit GARD.

National Organization for Rare Disorders