Huntington's disease (HD) is an inherited disorder that affects the brain. HD causes slow, progressive degeneration of nerve cells in certain areas of the brain. Eventually, HD results in:
The disease is named for George Huntington, the physician who first described the condition in the 1870s.
HD is caused by a faulty gene on chromosome #4. All people who inherit the faulty gene may eventually develop HD.
These factors increase your chance of developing HD. Tell your doctor if you have any of these risk factors:
Symptoms are mild at first and are often barely noticeable, but usually worsen over 15-20 years.
Physical symptoms may include:
Intellectual and emotional symptoms may include:
Ultimately, HD can:
The doctor will ask about your symptoms and medical history (including family medical history), and perform a physical exam. Tests may include:
There is a test that can determine if a person has inherited the gene for HD. This test may help to make the diagnosis of HD. It may also help to determine, before symptoms appear, if a person has inherited the HD gene. Genetic counseling is recommended before taking this test to review risks and benefits.
There is no cure for HD. Treatment aims to help control symptoms.
Drugs can help control abnormal movements and emotional symptoms of HD. These include:
Staying physically active helps people with HD to function better and longer. Often physical and occupational therapy may be of some benefit.
There is no way to prevent the onset of HD if a person has inherited the gene for the disorder. Medications aimed at slowing and treating the disease progression are being studied. A prospective parent with HD or a family history of HD can seek genetic counseling when deciding whether or not to have children. Genetic counseling is extremely important since half of the children of an affected parent are at risk for inheriting HD.
RESOURCES:
Hereditary Disease Foundation
http://www.hdfoundation.org/
Huntington Disease Society of America
http://www.hdsa.org/
International Huntington Association
http://www.huntington-assoc.com/
CANADIAN RESOURCES:
Health Canada
http://www.hc-sc.gc.ca/index_e.html/
Huntington Society of Canada
http://www.huntingtonsociety.ca/english/index.asp/
References:
Agarwal P. Huntington disease. MedLink Neurology website. Available at: http://www.medlink.com . Accessed February 1, 2009.
Aminoff M. Nervous system disorders. McPhee S, Papadakis M, Tierney L. Current Surgical Diagnosis and Treatment. 12th ed. New York, NY: McGraw-Hill; 2003: chap 24.
Medline Plus website. Available at: http://www.nlm.nih.gov/medlineplus/huntingtonsdisease.html .
The Merck Manual of Medical Information . 2nd ed. Pocket; 2003.
National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/ .
US National Library of Medicine website. Available at: http://www.nlm.nih.gov/ .
Last reviewed January 2009 by J. Thomas Megerian, MD, PhD, FAAP
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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