Spinocerebellar ataxia 5
Other Names for this Disease
- Spinocerebellar ataxia type 5
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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.
- Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing is a booklet providing information about spinocerebellar ataxia and is available as a PDF document on the University of Washington Medical Center Web site. Click on the title above to view this resource.
- 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.