Supriya Ghosh (Editor)

Spastic ataxia corneal dystrophy syndrome

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ICD-10
  
G11.8

Orphanet
  
2572

OMIM
  
271320

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. 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.

Symptoms include spastic ataxia, cataracts, macular corneal dystrophy and nonaxial myopia. Mental development is normal.

References

Spastic ataxia-corneal dystrophy syndrome Wikipedia