National Organization for Rare Disorders, Inc.Huntington's Disease
Important
It is possible that the main title of the report Huntington's Disease
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
- Chronic Progressive Chorea
- Degenerative Chorea
- HD
- Hereditary Chorea
- Hereditary Chronic Progressive Chorea
- Huntington's Chorea
- Very Early Onset Huntington's Disease
- Woody Guthrie's Disease
- VEOHD
Disorder Subdivisions
General Discussion
Huntington's disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involuntary movements. Dementia is typically associated with progressive disorientation and confusion, personality disintegration, impairment of memory control, restlessness, agitation, and other symptoms and findings. In individuals with the disorder, disease duration may range from approximately 10 years up to 25 years or more. Life-threatening complications may result from pneumonia or other infections, injuries related to falls, or other associated developments.
Huntington's disease is transmitted as an autosomal dominant trait. The disease results from changes (mutations) of a gene known as "huntingtin" located on the short arm (p) of chromosome 4 (4p16.3). In those with the disorder, the huntingtin gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The gene contains abnormally long repeats of coded instructions consisting of the basic chemicals cytosine, adenine, and guanine (CAG trinucleotide repeat expansion). The length of the expanded repeats may affect the age at symptom onset. The specific symptoms and physical features associated with Huntington's disease result from degeneration of nerve cells (neurons) within certain areas of the brain (e.g., basal ganglia, cerebral cortex).
Resources
Huntington's Disease Society of America
505 Eighth Avenue Suite 902 New York, NY 10018 USA Tel: 2122421968 Fax: 2122393430 Tel: 8003454372 Email: info@hdsa.org Internet: http://www.hdsa.org
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
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
Hereditary Disease Foundation 3960 Broadway 6th Floor New York, NY 10032 Tel: (212)928-2121 Fax: (212)928-2172 Email: cures@hdfoundation.org Internet: http://www.hdfoundation.org
Huntington Society of Canada 151 Frederick St, Suite 400 Kitchner Ontario, Intl N2H 2M2 Canada Tel: 5197497063 Fax: 5197498965 Tel: 8009987398 Email: info@hsc-ca.org Internet: http://www.huntington society.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/
Sjældne Diagnoser / Rare Disorders Denmark Frederiksholms Kanal 2, 3rd Floor Copenhagen K, 1220 Denmark Tel: 45 33 14 00 10 Fax: 45 33 14 55 09 Email: mail@sjaeldnediagnoser Internet: http://www.raredisorders.dk
Alzheimer's Foundation of America 322 8th Ave 6th Floor New York, NY 10001 USA Tel: 8662328484 Fax: 6466381546 Tel: 8662328484 Email: info@alzfdn.org Internet: http://www.alzfdn.org
New Horizons Un-Limited, Inc. 811 East Wisconsin Ave Suite 937 Milwaukee, WI 53202 USA Tel: 4142990124 Fax: 4143471977 Email: horizons@new-horizons.org Internet: http://www.new-horizons.org
UCSF Memory and Aging Center 350 Parnassus Avenue Suite 706 San Francisco, CA 94117 Tel: (415)476-6800 Fax: (415)476-4800 Internet: http://memory.ucsf.edu
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the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains
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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:
7/23/2007
Copyright
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National Organization for Rare Disorders, Inc.
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