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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
  • ICD-11: 8A03.1Y
  • OMIM: 271250
  • UMLS: C1849094
  • MeSH: C537309
  • GARD: 9971
  • MedDRA: -

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021) Português (2021)

Detailed information

General public

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.