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Autosomal recessive ataxia, Beauce type

Disease definition

Autosomal recessive ataxia, Beauce type is characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.

ORPHA:88644

  • Synonym(s):
    • ARCA1
    • Autosomal recessive cerebellar ataxia type 1
    • SCAR8
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G11.2
  • OMIM: 610743
  • UMLS: C1853116  C3683483
  • MeSH: -
  • GARD: 12234
  • MedDRA: -

Detailed information

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