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Spastic ataxia - corneal dystrophy

Orpha number ORPHA2572
Synonym(s) Bedouin spastic ataxia syndrome
Mousa-Al Din-Al Nassar syndrome
Spastic ataxia - ocular anomalies
Prevalence -
Inheritance
  • Autosomal recessive
Age of onset -
ICD-10
  • G11.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. It differs from the corneal-cerebellar syndrome (see this term) by the presence of normal intellectual development and the stromal (versus epithelial) nature of the corneal dystrophy. Transmission is autosomal recessive and the disease is monogenic.


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Detailed information

Review article
  • EN (2009)
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