Ataxia, Hereditary, Autosomal Dominant
National Organization for Rare Disorders, Inc.
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
- Episodic Ataxia
- Dentato-Rubro-Pallido-Luysian Atrophy
- Progressive Cerebellar Ataxia, Familial
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
National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447-4752
National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street
Quebec, Intl H1M 1X6
Tel: (514) 321-8684
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Ataxia Support Group
c/o Rose Gallant
185 Loch Lomond Road
Saint John, NB, E2J 3S3
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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