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
The Bedouin, Beduin, or Bedu (; , singular ) are nomadic Arab tribes who have historically inhabited the desert regions in the Arabian Peninsula, North Africa, the Levant, and Mesopotamia. The Bedouin originated in the Syrian Desert and A ...
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.
See also
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Rare disease
References
Further reading
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External links
Autosomal recessive disorders
Rare diseases
Syndromes
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