Diseases & Conditions
Ataxia, Hereditary, Autosomal Dominant
Synonyms of Ataxia, Hereditary, Autosomal Dominant
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.
Organizations related to Ataxia, Hereditary, Autosomal Dominant
For a Complete Report
- Dentato-Rubro-Pallido-Luysian Atrophy
- Episodic Ataxia
- Progressive Cerebellar Ataxia, Familial
- SCA
- Spinocerebellar Ataxia
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.
Organizations related to Ataxia, Hereditary, Autosomal Dominant
- Ataxia Support Group
c/o Rose Gallant
Saint John, NB None E2J 3S3
Phone #: N/A
800 #: N/A
e-mail: N/A
Home page: N/A - MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/ - National Ataxia Foundation
2600 Fernbrook Lane n, Suite 119
Minneapolis MN 55447-4752
Phone #: 763-553-0020
800 #: --
e-mail: [email protected]
Home page: http://www.ataxia.org - National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: [email protected]
Home page: http://www.ninds.nih.gov/ - WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York NY 10024
Phone #: 212-875-8312
800 #: N/A
e-mail: [email protected]
Home page: http://www.wemove.org
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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