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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia 8


Other Names for this Disease
  • SCA8
  • Spinocerebellar ataxia type 8
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Overview


Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades. Common initial symptoms include dysarthria, slow speech, and trouble walking. Some affected individuals experience nystagmus and other abnormal eye movements. Life span is typically not shortened. This condition is inherited in an autosomal dominant manner, although not all individuals with abnormalities in the disease-causing gene will develop the disease (called reduced penetrance).[1][2]
Last updated: 1/2/2012

References

  1. Ikeda Y, Dalton JC, Day JW & Ranum LPW. Spinocerebellar Ataxia Type 8. GeneReviews. February 2007; http://www.ncbi.nlm.nih.gov/books/NBK1268/. Accessed 10/12/2011.
  2. Yoshio Ikeda, Joline C Dalton, John W Day, Laura PW Ranum. Spinocerebellar Ataxia Type 8. GeneReviews. February 7, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1268/. Accessed 1/2/2011.
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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 8. Click on the link to view a sample search on this topic.

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