Health Library Ataxia, Hereditary, Autosomal DominantFrom Healthwise

National Organization for Rare Disorders, Inc.

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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.

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

• Marie's Ataxia

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.

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York, NY 10024
USA
Tel: 2128758312
Fax: 2128758389
Email: wemove@wemove.org
Internet: http://www.wemove.org

National Ataxia Foundation
2600 Fernbrook Lane
Suite 119
Minneapolis, MN 55447-4752
USA
Tel: 7635530020
Fax: 7635530167
Email: naf@ataxia.org
Internet: http://www.ataxia.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

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

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  8/17/2007
Copyright  1989, 1997, 2004, 2007 National Organization for Rare Disorders, Inc.

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