Spastic ataxia-corneal dystrophy syndrome explained
| Spastic ataxia-corneal dystrophy syndrome |
| Synonyms: | Bedouin spastic ataxia syndrome, Mousa-Al Din-Al Nassar syndrome and Spastic ataxia-ocular anomalies syndrome |
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.
See also
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 . 10.1016/0022-510x(86)90145-0 . 3465874 . 41626953.
- Book: Ahmad S. Teebi . Genetic Disorders Among Arab Populations . 30 July 2010 . Springer Science & Business Media . 978-3-642-05080-0.
Notes and References
- Web site: October 2006 . Orphanet: Spastic ataxia-corneal dystrophy syndrome . 18 May 2016 . Orphanet.
- Web site: 21 October 2014 . OMIM Entry - 271320 - SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA . 18 May 2016 . OMIM.
