This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Spinocerebellar ataxia 5 (SCA5) is one of the many spinocerebellar ataxias, which are inherited conditions that cause degeneration of the spinal cord and cerebellum. SCA5 almost exclusively affects the cerebellum. It is considered to be a mild form that progresses slowly. The age of onset is usually between the ages of 20 and 30, but a wide range in age of onset has been reported. Signs and symptoms may include loss of coordination of the hands, arms, and legs; impaired balance when walking; and slurred speech (dysarthria). SCA5 is caused by mutations in the SPTBN2 gene and is inherited in an autosomal dominant manner.
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