Huntington's Disease

National Organization for Rare Disorders, Inc.

Skip to the navigation

Important
It is possible that the main title of the report Huntington's Disease is not the name you expected.

Disorder Subdivisions

  • None

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 "huntington" located on the short arm (p) of chromosome 4 (4p16.3). In those with the disorder, the huntington 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).

Supporting Organizations

Advocacy for Neuroacanthocytosis Patients

32 Launceston Place
London, W8 5RN
United Kingdom
Tel: 4402079372938
Email: ginger@naadvocacy.org
Website: http://www.naadvocacy.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
Website: http://rarediseases.info.nih.gov/GARD/

Hereditary Disease Foundation, Inc.

3960 Broadway, 6th Floor
New York, NY 10032
Tel: (212)928-2121
Fax: (212)928-2172
Email: cures@hdfoundation.org
Website: http://www.hdfoundation.org

Huntington Society of Canada

151 Frederick St, Suite 400
Kitchner
Ontario, N2H 2M2
Canada
Tel: 5197497063
Fax: 5197498965
Tel: 8009987398
Email: info@huntingtonsociety.ca
Website: http://www.huntingtonsociety.ca/english/index.asp

Huntington's Disease Society of America

505 Eighth Avenue
Suite 902
New York, NY 10018
USA
Tel: (212)242-1968
Fax: (212)239-3430
Tel: (800)345-4372
Email: hdsainfo@hdsa.org
Website: http://www.hdsa.org

Huntington's Disease Youth Organization

116 Yewdale Crescent
Coventry
CV2 2FT
Tel: (782)179-9554
Email: info@hdyo.org
Website: http://www.HDYO.org

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.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
Website: http://www.movementdisorders.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
Website: http://www.ninds.nih.gov/

New Horizons Un-Limited, Inc.

811 East Wisconsin Ave
P.O. Box 510034
Milwaukee, WI 53203
USA
Tel: (414)299-0124
Fax: (414)347-1977
Email: horizons@new-horizons.org
Website: http://www.new-horizons.org

UCSF Memory and Aging Center

350 Parnassus Avenue
Suite 905
San Francisco, CA 94117
Tel: (415) 353-2057
Fax: (415)476-4800
Email: mgeschwind@memory.ucsf.edu
Website: http://www.memory.ucsf.edu

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  8/15/2008
Copyright  2007 National Organization for Rare Disorders, Inc.