Orphanet: Spastic ataxia corneal dystrophy syndrome

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Spastic ataxia-corneal dystrophy syndrome

Disease definition

Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.


Classification level: Disorder
  • Synonym(s):
    • Bedouin spastic ataxia syndrome
    • Mousa-Al Din-Al Nassar syndrome
    • Spastic ataxia-ocular anomalies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.8
  • OMIM: 271320
  • UMLS: C1849085
  • MeSH: -
  • GARD: 3795
  • MedDRA: -

Detailed information


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