Spinocerebellar ataxia 5
Other Names for this Disease
- Acrocephalosyndactyly type 5
- Pfeiffer syndrome
- 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.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.