Ataxia, Hereditary, Autosomal Dominant

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Ataxia, Hereditary, Autosomal Dominant is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Spinocerebellar Ataxia
  • SCA
  • Episodic Ataxia
  • Dentato-Rubro-Pallido-Luysian Atrophy
  • Progressive Cerebellar Ataxia, Familial

Disorder Subdivisions

  • Marie's Ataxia

General Discussion

The hereditary ataxias are a group of neurological disorders (ataxias) of varying degrees of rarity that are inherited, in contrast to a related group of neurological disorders that are acquired through accidents, injuries, or other external agents. The hereditary ataxias are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk (gait) accompanied often by poor eye-hand coordination and abnormal speech (dysarthria). Hereditary ataxia in one or another of its forms may present at almost any time between infancy and adulthood.

The classification of hereditary ataxias is complex with several schools of thought vying for recognition. This report follows the classification presented by Dr. Thomas D. Bird and the University of Washington's GeneReviews.

This classification is based on the pattern of inheritance or mode of genetic transmission of the disorder: i.e., autosomal dominant, autosomal recessive and X-linked. The autosomal dominant ataxias, also called the spinocerebellar ataxias, are usually identified as SCA1 through SCA25. Also included are several "episodic ataxias", as well as a very rare disorder known as DRPLA (dentato-rubro-pallido-luysian atrophy). This report deals with the autosomal dominant hereditary ataxias. There are fewer autosomal recessive hereditary ataxias than autosomal dominant hereditary ataxias, and X-linked forms of ataxia are very rare.

Until recently, all autosomal dominant ataxias were called Marie's ataxia and all autosomal recessive ataxias were called Friedreich's ataxia.

Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York, NY 10024
USA
Tel: (212)875-8312
Fax: (212)875-8389
Email: wemove@wemove.org
Internet: http://www.wemove.org

National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447-4752
USA
Tel: (763)553-0020
Fax: (763)553-0167
Email: naf@ataxia.org
Internet: http://www.ataxia.org

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street
Suite 110
Montreal
Quebec, Intl H1M 1X6
Canada
Tel: (514) 321-8684
Email: ataxie@lacaf.org
Internet: http://www.lacaf.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Ataxia Support Group
c/o Rose Gallant
185 Loch Lomond Road
Saint John, NB, E2J 3S3
Canada

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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