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, help physician's 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. 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 cause disease in the human
body.
What research is being
done?Scientific investigations using electronic and other
technologies enable scientists to see what the defective gene does to
various structures in the brain and how it affects the body's chemistry
and metabolism. Laboratory animals are being bred in the hope of
duplicating the clinical features of HD so that researchers can learn more
about the symptoms and progression of HD. Investigators are implanting
fetal tissue in rodents and nonhuman primates with the hope of
understanding, restoring, or replacing functions typically lost by
neuronal degeneration in individuals with HD. Related areas of
investigation include excitotoxicity (overstimulation of cells by natural
chemicals found in the brain), defective energy metabolism (a defect in
the mitochondria), oxidative stress (normal metabolic activity in the
brain that produces toxic compounds called free radicals), tropic factors
(natural chemical substances found in the human body that may protect
against cell death).
Keeping on Top of Your Condition
Keeping in tune with your disease or condition not only makes treatment less intimidating but also increases its chance of success, and has been shown to lower a patients risk of complications. As well, as an informed patient, you are better able to discuss your condition and treatment options with your physician.
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Hereditary Disease Foundation
11400 West Olympic Blvd.
Suite 855
Los Angeles, CA 90064-1560
cures@hdfoundation.org
http://www.hdfoundation.org/
Tel:
310-575-9656
Fax: 310-575-9156
Huntington's Disease Society of America
158 West 29th Street
7th Floor
New York, NY 10001-5300
hdsainfo@hdsa.org
http://www.hdsa.org/
Tel: 212-242-1968
800-345-HDSA (4372)
Fax: 212-239-3430
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