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Spinocerebellar ataxia type 34

Disease definition

Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

ORPHA:1955

  • Synonym(s):
    • Erythrokeratodermia with ataxia
    • SCA34
    • Spinocerebellar ataxia and erythrokeratodermia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: G11.1
  • OMIM: 133190
  • UMLS: C1851481  C2930921
  • MeSH: C535514  C535738
  • GARD: 59
  • MedDRA: -

Detailed information

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