Ataxia, Friedreich's
Important
It is possible that the main title of the report Ataxia, Friedreich's 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.
Friedreich's Ataxia is a genetic, progressive, neurologic movement disorder that typically becomes apparent before adolescence. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop abnormalities of certain reflexes; characteristic foot deformities; increasing incoordination of the arms and hands; slurred speech (dysarthria); and rapid, involuntary eye movements (nystagmus). Friedreich's Ataxia may also be associated with cardiomyopathy, a disease of cardiac muscle that may be characterized by shortness of breath upon exertion (dyspnea), chest pain, and irregularities in heart rhythm (cardiac arrythmias). Some affected individuals may also develop diabetes mellitus, a condition in which there is insufficient secretion of the hormone insulin. Primary symptoms may include abnormally increased thirst and urination (polydipsia and polyuria), weight loss, lack of appetite, fatigue, and blurred vision.
Friedreich's Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease has not been found may represent new genetic changes (mutations) that occur spontaneously (sporadically). Friedreich's Ataxia results from mutations of a gene known as "X25" or "frataxin" located on the long arm (q) of chromosome 9 (9q13). In most affected individuals, the frataxin gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The symptoms and findings associated with Friedreich's Ataxia are thought to result primarily from degenerative changes of nerve fibers of the spinal cord as well as peripheral nerves, which are the motor and sensory nerves and groups of nerve cell bodies (ganglia) outside the brain and spinal cord.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
National Ataxia Foundation
2600 Fernbrook Lane Suite 119
Minneapolis, MN 55447
USA
Tel: (763)553-0020
Fax: (763)553-0167
Email: naf@ataxia.org
Internet: http://www.ataxia.org
National Scoliosis Foundation
5 Cabot Place
Stoughton, MA 02072
Tel: (781)341-8333
Fax: (781)341-8333
Tel: (800)673-6922
Email: nsf@scoliosis.org
Internet: http://www.scoliosis.org
American Diabetes Association
1701 N. Beauregard Street
Alexandria, VA 22311
Tel: (703)549-1500
Fax: (703)549-6995
Tel: (800)342-2383
Email: askADA@diabetes.org
Internet: http://www.diabetes.org
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Internet: http://www.ninds.nih.gov/
Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street Office 110
Montreal
Quebec, H1M 1X6
Canada
Tel: 5143218684
Tel: 8553218684
Email: ataxie@lacaf.org
Internet: http://www.lacaf.org
Friedreich's Ataxia Research Alliance
533 W. Uwchlan Ave.
Downingtown, VA 19335
USA
Tel: (484)879-6160
Fax: (484)872-1402
Email: info@cureFA.org
Internet: http://www.curefa.org
Christopher & Dana Reeve Foundation
636 Morris Turnpike, Suite 3A
Short Hills, NJ 07078
USA
Tel: (973)379-2690
Fax: (973)912-9433
Tel: (800)225-0292
Email: prc@ChristopherReeve.org
Internet: http://www.christopherreeve.org
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
Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144
Email: info@letthemhear.org
Internet: http://www.letthemhear.org
Child Neurology Foundation
201 Chicago Ave, #200
Minneapolis, MN 55415
USA
Tel: (952)641-6100
Fax: (952)881-6276
Tel: (877)263-5430
Email: jstone@childneurologyfoundation.org
Internet: http://www.childneurologyfoundation.org
Movement Disorder Society
555 E. Wells Street
Suite 1100
Milwaukee, WI 53202-3823
Tel: (414)276-2145
Fax: (414)276-3349
Email: info@movementdisorders.org
Internet: http://www.movementdisorders.org
It is possible that the main title of the report Ataxia, Friedreich's 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
- Friedreich's Disease
- Friedreich's Tabes
- Hereditary Ataxia, Friedrich's Type
- Spinal Ataxia, Hereditofamilial
- FRDA
Disorder Subdivisions
- None
General Discussion
Friedreich's Ataxia is a genetic, progressive, neurologic movement disorder that typically becomes apparent before adolescence. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop abnormalities of certain reflexes; characteristic foot deformities; increasing incoordination of the arms and hands; slurred speech (dysarthria); and rapid, involuntary eye movements (nystagmus). Friedreich's Ataxia may also be associated with cardiomyopathy, a disease of cardiac muscle that may be characterized by shortness of breath upon exertion (dyspnea), chest pain, and irregularities in heart rhythm (cardiac arrythmias). Some affected individuals may also develop diabetes mellitus, a condition in which there is insufficient secretion of the hormone insulin. Primary symptoms may include abnormally increased thirst and urination (polydipsia and polyuria), weight loss, lack of appetite, fatigue, and blurred vision.
Friedreich's Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease has not been found may represent new genetic changes (mutations) that occur spontaneously (sporadically). Friedreich's Ataxia results from mutations of a gene known as "X25" or "frataxin" located on the long arm (q) of chromosome 9 (9q13). In most affected individuals, the frataxin gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The symptoms and findings associated with Friedreich's Ataxia are thought to result primarily from degenerative changes of nerve fibers of the spinal cord as well as peripheral nerves, which are the motor and sensory nerves and groups of nerve cell bodies (ganglia) outside the brain and spinal cord.
Resources
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
National Ataxia Foundation
2600 Fernbrook Lane Suite 119
Minneapolis, MN 55447
USA
Tel: (763)553-0020
Fax: (763)553-0167
Email: naf@ataxia.org
Internet: http://www.ataxia.org
National Scoliosis Foundation
5 Cabot Place
Stoughton, MA 02072
Tel: (781)341-8333
Fax: (781)341-8333
Tel: (800)673-6922
Email: nsf@scoliosis.org
Internet: http://www.scoliosis.org
American Diabetes Association
1701 N. Beauregard Street
Alexandria, VA 22311
Tel: (703)549-1500
Fax: (703)549-6995
Tel: (800)342-2383
Email: askADA@diabetes.org
Internet: http://www.diabetes.org
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Internet: http://www.ninds.nih.gov/
Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street Office 110
Montreal
Quebec, H1M 1X6
Canada
Tel: 5143218684
Tel: 8553218684
Email: ataxie@lacaf.org
Internet: http://www.lacaf.org
Friedreich's Ataxia Research Alliance
533 W. Uwchlan Ave.
Downingtown, VA 19335
USA
Tel: (484)879-6160
Fax: (484)872-1402
Email: info@cureFA.org
Internet: http://www.curefa.org
Christopher & Dana Reeve Foundation
636 Morris Turnpike, Suite 3A
Short Hills, NJ 07078
USA
Tel: (973)379-2690
Fax: (973)912-9433
Tel: (800)225-0292
Email: prc@ChristopherReeve.org
Internet: http://www.christopherreeve.org
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
Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144
Email: info@letthemhear.org
Internet: http://www.letthemhear.org
Child Neurology Foundation
201 Chicago Ave, #200
Minneapolis, MN 55415
USA
Tel: (952)641-6100
Fax: (952)881-6276
Tel: (877)263-5430
Email: jstone@childneurologyfoundation.org
Internet: http://www.childneurologyfoundation.org
Movement Disorder Society
555 E. Wells Street
Suite 1100
Milwaukee, WI 53202-3823
Tel: (414)276-2145
Fax: (414)276-3349
Email: info@movementdisorders.org
Internet: http://www.movementdisorders.org
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