Huntington's
Disease (HD) is a devastating, degenerative brain disorder
for which there is, at present, no effective treatment or cure.
HD slowly diminishes the affected individual’s ability to
walk, think, talk and reason. Eventually, the person with HD
becomes totally dependent upon others for his or her care.
Huntington’s Disease profoundly affects the lives of entire
families: emotionally, socially and economically.
Named for Dr. George Huntington, who first described this hereditary disorder in 1872, HD is now recognized as one of the more common genetic disorders. More than a quarter of a million Americans have HD or are “at risk” of inheriting the disease from an affected parent. HD affects as many people as Hemophilia, Cystic Fibrosis or muscular dystrophy.
Early symptoms of Huntington’s Disease may affect cognitive ability or mobility and include depression, mood swings, forgetfulness, clumsiness, involuntary twitching and lack of coordination. As the disease progresses, concentration and short-term memory diminish and involuntary movements of the head, trunk and limbs increase. Walking, speaking and swallowing abilities deteriorate. Eventually the person is unable to care for him or herself. Death follows from complications such as choking, infection or heart failure.
HD typically begins in mid-life, between the ages of 30 and 45, though onset may occur as early as the age of 2. Children who develop the juvenile form of the disease rarely live to adulthood. HD affects males and females equally and crosses all ethnic and racial boundaries. Each child of a person with HD has a 50-50 chance of inheriting the fatal gene. Everyone who carries the gene will develop the disease. In 1993, the HD gene was isolated and a direct genetic test developed which can accurately determine whether a person carries the HD gene. The test cannot predict when symptoms will begin. However, in the absence of a cure, some individuals “at risk” elect not to take the test.
Since the
discovery of the gene that causes HD, scientific research has
accelerated and much has been added to our understanding of
Huntington’s Disease and its effects upon different
individuals. By continuing to increase our investment in both
clinical and basic HD research each year, breakthroughs in
treatment – and a cure – will be forthcoming.
FAST FACTS
ABOUT HUNTINGTON'S DISEASE
What Is HD?
An inherited, degenerative brain disease.
A disease of both body and mind.
Symptoms generally appear between 30 and 50 years of age, but have appeared as young as 2 and as old as 70.
Each child of a HD parent has a 50% chance of inheriting the disorder and is said to be "at risk".
HD usually progresses over a 10 to 25 year period.
Characteristics/Symptoms
Personality changes, depression, mood swings.
Unsteady gait, involuntary movements.
Slurred speech.
Impaired judgment.
Difficulty in swallowing.
Intoxicated appearance.
Affected Population
Approximately 30,000 Americans have HD.
HD occurs in approximately 1 in 10,000 people in most "western" countries. In other countries the prevalence may be much lower.
150,000 are at risk of inheriting HD from a parent.
Affects both sexes.
HD does not skip generations; if you do have not inherit the gene, you cannot pass it on.
If you carry the gene, you will develop the disease if youi live long enough, and you can pass it on.
Challenge To The Entire Family
Each family member, whether they have the disease or not, is challenged emotionally, socially and economically.
Research Breakthrough
After a 10-year search, scientists announced in March 1993 that they had found the gene which causes HD.
Genetic Testing
The gene discovery has made possible a new predictive test for HD allowing those at risk to find out whether or not they will develop the disease.
The new test generally requires a blood sample only from the person being tested, unlike the old test which required samples from several members.
Some testing centers may request a sample from a parent for confirmation purposes.
Pre- and post-test counseling is a
necessary and important part of the testing procedure.