Spastic ataxia-corneal dystrophy syndrome
| Spastic ataxia-corneal dystrophy syndrome | |
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| Synonyms | Bedouin spastic ataxia syndrome, Mousa-Al Din-Al Nassar syndrome and Spastic ataxia-ocular anomalies syndrome |
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Spastic ataxia-corneal dystrophy syndrome (also known as Bedouin spastic ataxia syndrome) is an autosomally resessive disease. It has been found in an inbred Bedouin family.[1] It was first described in 1986. A member of the family who was first diagnosed with this disease also had Bartter syndrome. It was concluded by its first descriptors Mousa-Al et al. that the disease is different from a disease known as corneal-cerebellar syndrome that had been found in 1985.[2]
Symptoms include spastic ataxia, cataracts, macular corneal dystrophy and nonaxial myopia. Mental development is normal.[2]
See also[edit | edit source]
References[edit | edit source]
- ↑ "Orphanet: Spastic ataxia-corneal dystrophy syndrome". Orphanet. October 2006. Retrieved 18 May 2016.
- ↑ 2.0 2.1 "OMIM Entry - 271320 - SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA". OMIM. 21 October 2014. Retrieved 18 May 2016.
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