Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.
Genes:
SPTBN2
Disorders:
Ataxia
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members
