Search for a rare disease
Spastic ataxia-corneal dystrophy syndrome
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.
- Review article
- English (2009)