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Spinocerebellar ataxia type 38

Disease definition

Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.

ORPHA:423296

Classification level: Disorder
  • Synonym(s):
    • SCA38
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G11.8
  • OMIM: 615957
  • UMLS: -
  • MeSH: -
  • GARD: 12369
  • MedDRA: -

Detailed information

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