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Name: Huntington's Disease
Description: NINDS
Creator: Prajkta
This casebook is published and has been read 252 times.
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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.
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.
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.
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