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Name: Huntington's Disease

Description: NINDS

Creator: Prajkta

This casebook is published and has been read 495 times.

This casebook has been marked as a RESOURCE. It is an information stub intended for cloning or bookmarking as the basis of a new, more complete casebook.

The author of this casebook has identified the following medical topics as being highly relevant to this casebook.

  • Huntington Disease -- A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
Notes

What is Huntington's Disease?

Huntington's disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance. HD is a familial disease, passed from parent to child through a mutation in the normal gene. Each child of an HD parent has a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease and cannot pass it to subsequent generations. A person who inherits the HD gene will sooner or later develop the disease. Whether one child inherits the gene has no bearing on whether others will or will not inherit the gene. Some early symptoms of HD are mood swings, depression, irritability or trouble driving, learning new things, remembering a fact, or making a decision. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty feeding himself or herself and swallowing. The rate of disease progression and the age of onset vary from person to person. A genetic test, coupled with a complete medical history and neurological and laboratory tests, helps physicians diagnose HD. Presymptomic testing is available for individuals who are at risk for carrying the HD gene. In 1 to 3 percent of individuals with HD, no family history of HD can be found.

Is there any treatment?

Physicians prescribe a number of medications to help control emotional and movement problems associated with HD. In August 2008 the U.S. Food and Drug Administration approved tetrabenazine to treat Huntington’s chorea (the involuntary writhing movements), making it the first drug approved for use in the United States to treat the disease. Most drugs used to treat the symptoms of HD have side effects such as fatigue, restlessness, or hyperexcitability. It is extremely important for people with HD to maintain physical fitness as much as possible, as individuals who exercise and keep active tend to do better than those who do not.

What is the prognosis?

At this time, there is no way to stop or reverse the course of HD. Now that the HD gene has been located, investigators are continuing to study the HD gene with an eye toward understanding how it causes disease in the human body.

Bookmarks The following information, which has been distilled by the casebook author from this and other websites is particularly relevant to this casebook.
Bookmarks - Web
Web Page Notes Concepts
 Huntington's Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS) (Huntington Disease)
 
 http://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:file=viv_SdikXF&server=search4.nlm.nih.gov&v:state=root|root&url=http://www.nlm.nih.gov/medlineplus/huntingtonsdisease.html&rid=Ndoc0&v:frame=redirect& (Huntington Disease)
 
 Huntington's Disease: Hope Through Research: National Institute of Neurological Disorders and Stroke (NINDS) (Huntington Disease)
 
 Huntington's Disease Society of America - Homepage (Huntington Disease)
 

This web-site is for informational purposes only and is not intended as a substitute for advice from your doctor. It should not to be used for self-diagnosis or treatment.