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Spastic ataxia-corneal dystrophy syndrome

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
  • G11.8
  • C1849085
MeSH -
MedDRA -


Disease definition

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.

Clinical description

Immunological abnormalities were frequent.

Differential diagnosis

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.

Genetic counseling

Transmission is autosomal recessive and the disease is monogenic.

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