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Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia 5


Other Names for this Disease

  • SCA5
  • Spinocerebellar ataxia type 5
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1] Signs and symptoms may include loss of coordination of the hands, arms, and legs; impaired balance when walking; and slurred speech (dysarthria).[2] SCA5 is caused by mutations in the SPTBN2 gene and is inherited in an autosomal dominant manner.[3]
Last updated: 6/13/2014

References

  1. Puneet Opal and Huda Y Zoghbi. The spinocerebellar ataxias. UpToDate. Waltham, MA: UpToDate; June, 2014; Accessed 6/13/2014.
  2. Spinocerebellar Ataxia Type 5 (SCA5). National Ataxia Foundation. September, 2004; http://www.ataxia.org/pdf/sca5.pdf. Accessed 6/16/2014.
  3. Cassandra L. Kniffin. SPINOCEREBELLAR ATAXIA 5; SCA5. OMIM. August 28, 2013; http://omim.org/entry/600224. Accessed 6/16/2014.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spinocerebellar ataxia 5. Click on the link to view a sample search on this topic.

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Other Names for this Disease
  • SCA5
  • Spinocerebellar ataxia type 5
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.