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Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia 2


Other Names for this Disease

  • Olivopontocerebellar atrophy 2
  • Olivopontocerebellar atrophy Holguin type
  • SCA 2
  • SDSEM
  • Spinocerebellar ataxia Cuban type
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Overview

Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Signs and symptoms usually begin in mid-adulthood but can appear any time from childhood to late-adulthood. SCA2 is caused by mutations in the ATXN2 gene and is inherited in an autosomal dominant manner.[1][2]
Last updated: 6/23/2014

References

  1. Pulst SM. Spinocerebellar ataxia type 2. GeneReviews. August 1, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1275/. Accessed 1/31/2014.
  2. Spinocerebellar ataxia type 2. Genetics Home Reference. February, 2011; http://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2. Accessed 6/23/2014.
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Basic Information

In Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Neuromuscular Disease Center at Washington University provides information about spinocerebellar ataxia 2.
  • 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.
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    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spinocerebellar ataxia 2. Click on the link to view a sample search on this topic.

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Other Names for this Disease
  • Olivopontocerebellar atrophy 2
  • Olivopontocerebellar atrophy Holguin type
  • SCA 2
  • SDSEM
  • Spinocerebellar ataxia Cuban type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.