Spastic ataxia-corneal dystrophy syndrome
| Spastic ataxia-corneal dystrophy syndrome | |
|---|---|
| Synonym | Bedouin spastic ataxia syndrome, Mousa-Al Din-Al Nassar syndrome and Spastic ataxia-ocular anomalies syndrome |
| Classification and external resources | |
| ICD-10 | G11.8 |
| OMIM | 271320 |
| Orphanet | 2572 |
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
References
- ↑ "Orphanet: Spastic ataxia-corneal dystrophy syndrome". Orphanet. October 2006. Retrieved 18 May 2016.
- 1 2 "OMIM Entry - 271320 - SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA". OMIM. 21 October 2014. Retrieved 18 May 2016.
Further reading
- Mousa AR, Al-Din AS, Al-Nassar KE, Al-Rifai KM, Rudwan M, Sunba MS, Behbehani K (1986). "Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family—a new syndrome". J. Neurol. Sci. 76 (1): 105–21. doi:10.1016/0022-510x(86)90145-0. PMID 3465874.
- Ahmad S. Teebi (30 July 2010). Genetic Disorders Among Arab Populations. Springer Science & Business Media. ISBN 978-3-642-05080-0.
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