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Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

Disease definition

A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.

ORPHA:95433

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive spinocerebellar ataxia type 3
    • Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
    • SCABD
    • SCAR3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.1
  • OMIM: 271250
  • UMLS: C1849094
  • MeSH: -
  • GARD: 9971
  • MedDRA: -
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