Frequently Asked Questions about HDSA and HD.
What is Huntington’s Disease (HD)?
Huntington's Disease: a devastating, hereditary, 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 investment in both clinical and basic HD research each year, breakthroughs in treatment - and a cure can be forthcoming.
What are HD symptoms?
Symptoms usually evolve slowly vary from person to person, even within the same family. Some individuals may be affected first cognitively (depression, forgetfulness, impaired judgment). Others suffer with motor skill impairment (dystonia or involuntary movements, unsteady gait). Eventually, every person afflicted by HD requires full-time care.
Domains affected include: cognitive, motor and behavioral. Members of the same family may exhibit different symptoms. Some can show mild involuntary movements (chorea) and have more emotional/behavioral symptoms of HD or can have less emotional/ behavioral symptoms with more difficulty with involuntary movements.
Some HD Symptoms:
Behavioral/emotional
-
Irritability
-
Depression
-
Anxiety
-
Aggressive outbursts
-
Mood swings
-
Social withdrawal
Motor
-
Fidgety behavior
-
Uncoordination
-
Involuntary movements (chorea, dystonia)
-
Difficulties with speech, swallowing, balance, walking
Cognitive
-
Problems with short-term memory, organizing, coping, concentrating
Can you predict when you will get the disease?
You must have inherited the gene to get the disease.
Thought there may be some correlation between the number of times the CAG (see the HDSA Glossary of Terms) is repeated and the age of onset, it is impossible to know exactly when the disease will begin to manifest itself. The higher the CAG repeat, the more likely HD will strike at a younger age. Most individuals affected by HD exhibit symptoms between the ages of 30 to 50 years of age. In rare cases, children as young as two and individuals as old as 80 have exhibited symptoms of HD.
How many are affected by HD?
One out of every 10,000 Americans has HD. Yet the devastating effects of HD touch many more. HD does not skip generations.
Each child of a parent with HD has a 50/50 chance of inheriting the gene that causes HD.
If a child does not inherit the gene, he or she cannot pass it on. If the child does inherit the gene, he or she can pass it on and will develop the disease if that child lives long enough. There areapproximately 200,000 Americans “at-risk” of developing the disease.
How long do you live after HD symptoms begin?
The average lifespan after onset of HD is 10-20 years. The younger the age of onset, the more rapid the progression of the disease.
What is the prognosis for those with Huntington’s Disease?
At this time, there is no way to stop or reverse the course of HD. There is no treatment to halt the progression, which leads to death after ten to twenty-five years. However, 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.
What is the cause of death for most HD patients?
Most people with HD do not die as a direct result of HD but rather from medical problems that arise (infections, choking and pneumonia) from the effects of HD on the body.
Is there an effective treatment or cure at this time?
Research has yet to find a means of curing or even slowing the deadly progression of HD although some medications can relieve some of the symptoms in certain individuals.
What progress has been made in HD research?
Since 1993 when the gene that causes HD was discovered, much has been added to the understanding of the disease. Research efforts are currently exploring many new avenues and approaches including focus on way to delay onset of HD, development of effective therapies that may slow the progression of HD and ultimately, a cure for the disease.
What social and legal issues do people with HD face?
Those affected by HD often face discrimination both on the job and from their health insurance carrier. While genetic discrimination in the workplace and from health insurance carriers has been banned in the federal government positions, few other employees enjoy these same protections.
Individuals who suffer from the movement disorder associated with HD are often accused of being intoxicated because of slurred speech or an uneven gait. For those in which the first stage of the disease may show itself either mentally or emotionally, these “hidden” disabilities can be difficult for people to understand. Those with HD are often blamed for behaviors they cannot control.
What is genetic testing and what does it involve?
This is a process where blood is taken and analyzed to determine if the gene for HD is present.
The result enables those who are “at risk” to learn whether they carry the gene or not.
Few of those people “at risk” of HD opt to have the test performed given the fact that there are few therapeutic options available effective in combating the effects of HD.
Anyone considering genetic testing for HD is advised to work with a genetic testing center that follows HDSA’s genetic testing guidelines that include both pre-and post- test counseling. Only those over the age of 18 may be testing for HD unless they are exhibiting symptoms of the disorder.
Genetic testing can also be utilized to confirm a clinical diagnosis of HD. The test cannot provide an age of onset. It can confirm only that an individual has or does not have the HD gene.
Where can I go for more information about HD?
Contact an HDSA chapter near you or your nearest HDSA Center of Excellence. You can also call the HDSA National Office at 800 345-HDSA (4372).
What types of research does HDSA support?
HDSA funds both basic and clinical research. Through its Grant and Fellowship programs, HDSA provides “seed money” for new research initiatives that allow the HD researcher to explore and develop new ideas to where they might be funded by larger agencies such as the National Institutes of Health (NIH). Through the HDSA Coalition for the Cure, labs worldwide work in collaboration to speed the creative of therapeutic interventions and eventually a cure for HD.
How has HDSA increased its funding to research?
In 1996, HDSA committed $183,000 to its research programs and could fund 4 research grants. Today, HDSA has become the world leader in HD research funding. From 1996 to 2004, HDSA committed $23 million to grants programs, HDSA Centers of Excellence and research. Grants awarded for two years by HDSA have increased to an average of $100,000 per investigator while research fellowship awards average $80,000 per investigator (if renewed). HDSA Coalition for the Cure investigators receive an average of $200,000 over a two year period. Since 1995, this growth is matched only by the increased pace and interest in HD research.
What patient and family service programs does HDSA provide?
HDSA provides a national network of services and educational programs through its many volunteer-based chapters and affiliates, numerous support groups and 21 HDSA Centers of Excellence for Family Services with more being planned for the future.
HDSA chapters and affiliates serve as a vital link between HDSA and its HD families in the field. HDSA chapters and affiliates support HDSA’s national fundraising efforts through participation in both national development activities and grassroots programs. Initiatives include:
- The Guthrie Awards Dinner, held in partnership with the Guthrie family, where prominent individuals who have demonstrated their commitment to the fight against HD are recognized. Proceeds from the Dinner benefit the Woody and Marjorie Guthrie Research Fund.
- Drive Toward A Cure BMW Sweepstakes, sponsored by BMW of North America which raised nearly $200,000 each year for the care, treatment and cure initiatives.
- HDSA’s Amaryllis Campaign and HDSA “Shoot-for-the-Cure Hoop-a-thons”, all chapter-based events that raise vital funds for research, education and family service programs.
What are the HDSA Centers of Excellence for Family Services?
These are medical facilities recognized by HDSA as having expertise in movement disorders and/or HD. They provide a multidisciplinary approach to the treatment of HD. Services include, but are not limited to, neurology, speech, physical and occupation therapies, genetic counseling and genetic testing. The Centers also have available trained social workers and a resource center for regional referrals.
The success of HDSA’s Centers of Excellence program has been impressive. Starting with one center in 1997 at Emory University in Atlanta, GA, this HDSA program has grown to 21 Centers in just 8 years.
Funding for each Center of Excellence begins with “HDSA Celebration of Hope” events where proceeds from these events are used to partially support that HDSA Center of Excellence for Family Services and its programs for the year. “Celebration of Hope” events can be anything from a dinner to honor an HDSA booster to luncheons to wine tasting and more.
HDSA also provides a toll free hotline with information about referral sources and local resources available to HD families and patients. Many chapters provide trained social workers and host local information and help lines in their area.
HDSA also sends out Family Information Packets to those who inquire by phone, mail or e-mail. This is an important first step in good care for those HD families just starting to face the challenges of Huntington’s Disease.
What educational services and resources does HDSA provide?
Newsletters, magazines, research updates and bulletins offer HD education and information to more than 65,000 readers. HDSA offers numerous publications, pamphlets and videotapes that address topics of interest to our HD families and allied health care professionals. Our national website includes basic information about HD, updates on HD research and researchers and Helpful Links to HDSA chapters and other HD resources that can provide a wide array of relevant data helpful to the HD patient, families, caregivers and health care professionals.
HDSA also reaches out to its constituents throughout the year to increase awareness of HD via conferences, events, media opportunities and at the Annual HDSA Convention.
We heard about a treatment for HD symptoms that seemed unusual, botulinum toxin. Can you describe how it is used for people with HD?
The medication described below is an example of how concerned clinicians attempt to meet the needs of the HD community using treatments somewhat off the usual path. Botulinum toxin may be injected into overactive muscles to produce a controlled amount of muscle relaxation or weakness. It may be of benefit to some people with HD if focal muscle spasm is problematic. Although not useful in treatment of whole body chorea, some patients have responded nicely to this form of therapy. The following examples should serve to demonstrate the approach:
-
Some people with HD have severe involuntary clenching of the jaw (also known as bruxism). Botulinum toxin may be injected directly into the jaw-closing muscles. The beneficial effect begins within one to 10 days and lasts for two to six months. The injections must be carried out by an experienced doctor in order to prevent side effects.
-
HD may cause dystonia or involuntary twisting of a body part. This may occur in the neck, arm, leg or trunk. If the region involved includes a small number of overactive muscles, botulinum toxin may be of benefit. We have successfully treated patients with painful twisting of the neck or in-turning of the foot. The key to a successful outcome is selection of appropriate patients and good injection technique.
Obviously, the medication described above is not 'magic' and certainly does not offer a cure for HD. It does offer an alternative treatment for specific problems sometimes encountered during the course of HD. As with any treatment, success depends upon accurate diagnosis, appropriate dosing and careful monitoring of response. If you think that this therapy might be applicable to you or someone you know, please discuss it with your neurologist.