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INDEX Page Commonly asked questions about HD
1. What is Huntington's Disease?
Huntington's Disease (HD) also called Huntington's Chorea is an inherited disorder of the central nervous system.
It causes progressive deterioration with varying symptoms which may include involuntary movements, speech impairment, and intellectual and emotional changes. Symptoms usually appear between the ages of 30 and 45, although they may appear earlier or later.
2. How does the disease get its name?
The disease is named after Dr. George Huntington, an American physician, who was the first to publish a precise description of the symptoms and course of the disease in an article written in 1872.
3 Who Is Affected?
HD is hereditary. Each child of a parent who has HD has a 50/50 chance of inheriting the gene and is said to be at risk. Huntington's Disease affects both genders as well as different races and ethnic groups throughout the world.
4. How is the disease inherited?
This is a genetic disease. People with the abnormal gene will always develop the disease, unless they die of other causes prior to developing signs and symptoms. People who do not inherit the HD gene will not develop the disease, neither will their children, or the childrens children. The disease does not skip a generation.
5. How is it caused?
It is caused by a dominant defective gene which causes certain brain cells to deteriorate.
6. How many people in United States are affected?
Huntington's Disease, once thought of as rare, is now recognized as one of the more common hereditary diseases. In the past, families often hid HD as a shameful secret. This fact coupled with medical misdiagnosis of HD, has led to an underestimation of its prevalence.
It is estimated that 35,000 people have the illness in USA . Another 200,000 are at a 50 percent risk of inheriting the disease from an affected parent. On average for every individual with the disease there are 22 close family members indirectly affected.
7. Is there any test to predict if a person will get the disease?
Research has provided a bright ray of hope for the future. In 1983 scientists discovered a genetic flag known as the HD marker and after a 10 year search the HD gene was finally located and described in March 1993.
This resulted in a DNA test and associated counselling which will inform the individual, who is at risk, if they are carrying the gene for Huntington's Disease before symptoms appear. This test will also confirm a neurological diagnosis.
Details on the predictive test are available from several HDSA approved Genetic Test Centers. Contact the HDSA at 1-800-345-4372. Some testing centers may request a parent's blood sample for confirmation. Pre-test and post-test counseling is part of the procedure.
Decisions can be made about careers, childbearing and other long-term issues. But because there are few therapeutic options that are effective in combating HD, not every individual at-risk for this devastating disease will choose to have the test performed.
8. Can Huntington's Disease strike without a family history of it?
Spontaneous mutation of the genes can occur.
9. What Are the Symptoms?
Early symptoms appear slowly. The symptoms can also differ from person to person, even in the same family.
Sometimes, the symptoms are present for a long time before a diagnosis of Huntington's disease is made. This is especially true when people are not aware that Huntington's disease is in their family.
The early symptoms include:
- slight, uncontrollable muscular movements
- stumbling and clumsiness
- lack of concentration
- short-term memory lapses
- depression
- changes of mood, sometimes including aggressive or antisocial behaviour
Some people who know they are at risk spend time searching for the first signs that they are developing the disease. They may worry about simple things like dropping a cup, forgetting a name or becoming unusually bad-tempered. Most people do these things occasionally - whether they are at risk from Huntington's disease or not - so they could be worrying unnecessarily.
Anyone who is concerned should have a word with their physician who may refer them to a neurologist for tests. These tests could include a number of simple assessments and possibly a brain scan. The genetic tests mentioned above may also be used to aid diagnosis.
Children as young as two and adults as old as 80 have developed Huntington's Disease. These symptoms usually appear, however, between the ages of 30 and 50 - after a person has married, had children and perhaps passed on the HD gene.
10. How is the family affected?
Members of a HD family are challenged (emotionally, socially and economically) as HD affects everyone in different ways. People with HD
must learn to cope with the many challenges that the disease brings and the changes in their ability to contribute within society. Many experience isolation, some may be abandoned, but the majority make positive adjustments and enjoy life.
Children live with the prospect of inheriting the disorder and face the adult decision about genetic testing. Their decisions about marriage, having children and career choice may be affected by their own HD risk status.
Great strain is put on relationships if unexpected temper outbursts are directed towards the partner. The time before a diagnosis is made
can be very confusing and frightening because people do not understand what is happening and why. Spouses hold the family together in the face of disability, income loss, relationship and emotional changes - often with little relief.
Family resources can be severely depleted by the illness because many HD individuals require long-term home and/or institutional care. Therefore,
it is important to do as much financial and legal planning for the future as possible.
11. What treatments are there for the disease?
There are no treatments that will halt or reverse the disease process at present. It is possible to treat some of the effects, such as depression, and gross involuntary movements, with various drugs. Improvements in general health, such as adequate nutrition, will bring about improvements in the status of the person, and in their enjoyment of life. Immense strides are being made in medical research. Huge sums of money are being put into research.
12. Is there a special diet required for sufferers?
There can be rapid weight loss, and it is estimated that HD patients need something in the order of 5000 calories a day to sustain them twice that of the average adult intake. It has been shown that many patients who manage to gain weight also find that their clinical state improves.
HD affects both sexes and all races and
ethnic groups around the world.
Where to Find Help
The Huntington's Disease Society of America has a nationwide network of chapters, affiliates and Centers of Excellence for Family Services that provide support and referrals as well as state of the art regional care for individuals with HD and their families. Contact HDSA by calling 1-800-345-4372 (HDSA) or on the Internet at www.hdsa.org
The Huntingtons Disease Society of America (HDSA) is a national voluntary non-profit organization dedicated to finding a cure for Huntingtons Disease while providing support and services for those living with HD and their families. Founded in 1967, HDSA promotes and supports both basic and clinical HD research, aids families throughout the continuum of HD and educates families, the public and healthcare professionals about this devastating disease.
An End to HD?
The outlook for solving the puzzle of Huntington's Disease has never been more promising. In 1993, researchers finally were able to identify the gene that causes HD. Momentum in HD research continues to increase our understanding about the Huntington's gene and how it functions. Current research projects or those in development could provide the next major discovery at any time.
The Huntington's Disease Society of America (HDSA) funds both clinical and basic research at leading hospitals and research facilities through the HDSA Coalition for the Cure, the HDSA Grants and Fellowships program and through our HDSA Centers of Excellence for Family Services. With your help, our continued commitment to research funding WILL solve the puzzle of HD.
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