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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spinocerebellar ataxia


Overview

Spinocerebellar ataxia (SCA) is a group of inherited conditions that are characterized by degenerative changes of the nervous system (brain and spinal cord).[1] There are many different types of SCA; the signs and symptoms vary by type but may include an uncoordinated walk (gait), poor hand-eye coordination, and abnormal speech (dysarthria).[2][3] Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Treatment is supportive and based on the signs and symptoms present in each person.[3]
Last updated: 12/2/2014

References

  1. NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page. National Institute of Neurological Disorders and Stroke. April 2014; http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm.
  2. Opal P, Zoghbi, HY. The Spinocerebellar Ataxias. UpToDate. November 2014; http://www.uptodate.com/contents/the-spinocerebellar-ataxias. Accessed 2/12/2015.
  3. Autosomal Dominant Hereditary Ataxia. NORD. April 2014; http://rarediseases.org/rare-disease-information/rare-diseases/byID/674/viewFullReport.
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Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • The 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spinocerebellar ataxia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SCA
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