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Spinocerebellar ataxia type 40

Disease definition

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

ORPHA:423275

  • Synonym(s):
    • SCA40
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G11.8
  • OMIM: 616053
  • UMLS: -
  • MeSH: -
  • GARD: 12371
  • MedDRA: -

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