Spinocerebellar ataxia 5
Other Names for this Disease
- 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.
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.Spinocerebellar ataxia 5 (SCA5) is one of the many spinocerebellar ataxias, which are inherited conditions that cause degeneration of the spinal cord and
Last updated: 6/13/2014
- Puneet Opal and Huda Y Zoghbi. The spinocerebellar ataxias. UpToDate. Waltham, MA: UpToDate; June, 2014; Accessed 6/13/2014.
- Spinocerebellar Ataxia Type 5 (SCA5). National Ataxia Foundation. September, 2004; http://www.ataxia.org/pdf/sca5.pdf. Accessed 6/16/2014.
- Cassandra L. Kniffin. SPINOCEREBELLAR ATAXIA 5; SCA5. OMIM. August 28, 2013; http://omim.org/entry/600224. Accessed 6/16/2014.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Ataxia Foundation has a fact sheet about spinocerebellar ataxia 5 containing frequently asked questions about the condition. Click on the link to view this resource as a PDF.
- The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- Online Mendelian Inheritance in Man (OMIM) is a 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.