National Organization for Rare Disorders, Inc.
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 Back to top
- Chronic Progressive Chorea
- Degenerative Chorea
- Hereditary Chorea
- Hereditary Chronic Progressive Chorea
- Huntington's Chorea
- Very Early Onset Huntington's Disease
- Woody Guthrie's Disease
Disorder Subdivisions Back to top
General Discussion Back to top
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 Back to top
Huntington's Disease Society of America
505 Eighth Avenue
New York, NY 10018
WE MOVE (Worldwide Education and Awareness for Movement Disorders)
5731 Mosholu Avenue
Bronx, NY 10471
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Hereditary Disease Foundation
3960 Broadway, 6th Floor
New York, NY 10032
Huntington Society of Canada
151 Frederick St, Suite 400
Ontario, Intl N2H 2M2
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Alzheimer's Foundation of America
322 8th Ave, 7th Floor
New York, NY 10001
New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
P.O. Box 510034
Milwaukee, WI 53203
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
UCSF Memory and Aging Center
350 Parnassus Avenue
San Francisco, CA 94117
Advocacy for Neuroacanthocytosis Patients
32 Launceston Place
London, W8 5RN
Tel: +44 (0) 20 7937 2938
Fax: +44 (0)207 495 4245
Internet: http://www.naadvocacy.org Spanish-speakers Fiona Fleming email@example.com, French-speakers Anne Depaulis firstname.lastname@example.org & German-speakers Louise Dreher Hedreher@aol.com
Movement Disorder Society
555 E. Wells Street
Milwaukee, WI 53202-3823
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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 email@example.com
Last Updated: 8/15/2008
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