What is SCA-7?
Spinocerebellar Ataxia 7 (SCA-7) is a debilitating neurological condition that cripples a person’s vision, speech, motor skills, and other critical physical functions. Severity and rate of progression increases with earlier onset, but all victims will reach full disability (legal blindness and/or speech impairment and/or wheelchair-bound and/or other issues). There is no treatment or cure for SCA-7.
In adolescent-onset of SCA-7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia (shrinkage of the cerebellum, which controls balance and coordination). In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies, the eventual result for almost all affected individuals is loss of vision, severe dysarthria (slurred or slow speech) and dysphagia (problems swallowing), and a bedridden state with loss of motor control.
The diagnosis of SCA–7 is established within genetic testing by the identification of a abnormal CAG repeat expansion in ATXN7 gene. SCA–7 is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting an abnormal CAG repeat expansion in ATXN7. Once an ATXN7 CAG repeat expansion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for SCA–7 are possible.
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