What Is Huntington's Disease?

Huntington's disease is an inherited neurological disorder, with three types of symptoms. These are uncontrolled movements, a decline in mental function and disturbances in behavior. Approximately ten individuals out of 100,000 in the United States are affected.

The uncontrolled movements can begin with slow fidgeting which can get worse with both a fluid twisting and turning of parts of the body (called athetosis), as well as brief, unintended purposeless movements (called chorea). Usually these movements are seen in the arms, legs and face, but they can occur anywhere.

The deterioration in mental function leads to difficulty with concentration and comprehension. There is confusion and problems while concentrating and thinking, which can lead to a breakdown of understanding.

The behavioral disturbances worsen with the progression of the disease. The patient has a difficult time enjoying things. There are noticeable changes in personality and interactions with the outside world. Irritability, anger, outbursts and violent mood-swings are few commonly seen symptoms. Depression is also very common with Huntington's disease, which lead to suicidal thoughts.

How Does It Occur?

Huntington's disease is a genetic disorder, passed on from parents to children. This happens in an autosomal dominant pattern, which means that if one parent has the disease there is a 50 percent chance of the child getting it. Symptoms usually appear when the patient is in his forties or fifties, but it can occur in any age group.

In Huntington's disease, degeneration of the caudate and putamen is seen. These are the brain structures involved in motion control and hence lead to the problems in motion control, thinking and behavior. There is dysfunction and death of the neurons (brain cells) in this area and in other areas of the brain. Other helper cells in the brain are also sometimes affected.

The cause for such degeneration in these areas of brain is still unknown. The gene, called Huntingtin, has been discovered which seems to be responsible. A mutated Huntingtin gene is seen in the cells of patients with this disease and causes the brain cell to function abnormally or die.

What Are The Symptoms?

The classic symptoms of Huntington's disease occur in three parts. These include movement, thinking and behavioral symptoms which in the beginning are mild and subtle, growing worse with time, usually over several years.

How Is It Diagnosed?

The diagnosis of Huntington's disease is based on the symptoms above. A doctor will also perform neurological tests to help confirm diagnosis. Other tests such as an electroencephalogram (EEG) or computed tomography (CT) may be done in addition to help rule out other potential disorders.

There is also a special blood test for Huntington's disease, which identifies a gene responsible for the disease. The test determines whether an individual is affected with the disease and what are the chances of passing the gene on to his child.

How Is It Treated?

There is currently no cure for Huntington's disease, but only symptomatic treatment available. Some medications help to partially reduce and suppress the symptoms of excessive movements. These medications are from phenothiozine, neuroleptic or benzodiazepine class of drugs. Other medications may be given to help relieve depression and other behavioral disturbances associated with the disease. These may be in the tricyclic antidepressant or in the serotonin class of drugs. So far there are no medications to reduce the progression of the disease.

Currently there is a lot of research being done on Huntington's disease. Active studies are being conducted to investigate the possibilities of brain cell replacement. Also, new therapies to replenish neurotransmitters (brain cell chemicals) that are lost in the disease process are being developed. So there is much to be hopeful about.

How Long Do The Effects Of The Disease Last?

Huntington's disease is a disease with a progressive deterioration. Symptoms usually continue to get worse over a period of about 15 years. Subtle initial symptoms usually become worse with time and usually in the late stages of the disease supervised care is required.

What Can Be Done To Prevent Huntington's Disease?

Because Huntington's disease is a genetically controlled disease there are not many preventative measures available. Hence for couples that are at risk, genetic counseling is important before considering children. Tests for the gene mutation are important for the same reason.

However, a positive attitude and outlook are very important, as are diet and exercise. Being aware of the disease and symptoms can markedly improve the quality of life for such individuals. The design of particular drug therapies and dosage regimens can also make a big difference in managing the symptoms.

How Can I Take Care Of Myself?

The best care in Huntington's disease will be to pay special attention to changing symptoms and to alert the physician about them. Many of the behavioral problems with Huntington's disease can be well controlled by a variety of means including strong family and social support, counseling and pharmacological treatment. These can greatly improve the prognosis. In the beginning stages of the disease your physician can help reduce the movement disorders, which will help the individual to continue leading an active lifestyle as much as possible.

For more information:
http://www.interlog.com/~rlaycock/2nd.html

International Huntington Association
Callunahof 8
7217 St Harfsen
Netherlands
tel: 31-573-431595
fax: 31-70-314 8880

Huntington's Disease Society of America
158 West 29th St., 7th floor
New York, NY 10001-5300, U.S.A.
tel: 212-242-1968 1-800-345-HDSA
fax: 212-239-3430

When Should I Call The Doctor?

The doctor should be called if you suspect that you are at risk of having this disease. The doctor can diagnose the disease or discover any other curable diseases. He or she can explain the symptoms and what you can expect in greater detail. If you do have Huntington's disease, the doctor should be called in any time whenever there is a change or worsening of the symptoms.

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