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Huntington's disease (also known as Huntington's chorea, also known as St. Vitas dance) is a debilitating disease that destroys nerve cells of the brain. The patient who has Huntington's disease may experience physical, mental and emotional degeneration. The word "chorea" comes from the Greek word for "dance." This disease is inherited and passed down from either sex to the offspring. Only one copy of the genetic mutation is necessary to pass on the disease. If one parent has the genetic mutation, the child has a 50 percent chance of developing Huntington's disease by the time he/she reaches middle age. If both parents have the mutated gene, the child has a 100 percent chance of developing the disease by the time he/she reaches middle age. In the United States there are approximately 10,000 people with Huntington's disease, and there are 150,000 people with at least one parent with the disease, making them at risk of developing the disease.

What are the signs and symptoms of Huntington's disease?

Family and friends may notice changes in the person with Huntington's disease before the patient is even aware he has the disease. The signs and symptoms may include:

1.
decreased cognitive ability
2.
Depression
3.
Irritability
4.
Paranoia
5.
Involuntary facial movements (grimacing)
6.
Sudden jerking that involves the whole body
7.
Poor balance
8.
Lack of coordination
9.
Inability to change line of vision without moving the head
10.
Difficulty in forming words
11.
Slurred speech
12.
Inability to swallow
13.
Dementia

People who develop Huntington's disease at an early age may have symptoms that resemble Parkinson's disease. These symptoms include:

1.
Tremors
2.
Slow movements
3.
Rigid muscles
4.
Seizure activity

If you have a family history of Huntington's disease, you should see your doctor to be tested to see if you carry the gene. The signs and symptoms of Huntington's disease can be identical to other diseases and conditions, but whether or not you have a family history of Huntington's disease, you should be evaluated by your physician, because there may be a disease process going on in your body.

How is Huntington's disease diagnosed?

Your physician will do a history and physical, and note any complaints of your symptoms, whether they are physical, cognitive, or emotional in origin. An MRI or CT scan may how structural changes within the brain. Your doctor may want to order a blood test to determine if you do carry the defective gene.

What should be expected after being diagnosed with Huntington's disease?

Once Huntington's disease presents, and is confirmed, the degenerative process will progress until the time of death. Signs and symptoms vary in severity from one person to the next. Many people that have the disease have difficulty coping with the loss of their vital functions and become depressed. Some patients are so severely depressed they are at risk of suicide, however death usually occurs from complications related to the disease. An example of a complication that can cause death is that the patient falls, and breaks his/her hip. The patient is immobilized from the injury, and may spend more time lying in bed. Immobility has its own problems, of which, blood clots, and emboli can form to lodge in the lung or the small vessels in the brain. The immobility from the fall may also cause bed sores to develop from lying in bed for long periods of time without turning. Another complication is the risk of pneumonia that can develop from immobility. There are many factors that can determine the over-all health of the person with Huntington's disease.

How is Huntington's disease treated?

There is no effective treatment for Huntington's disease. Medications such as Zoloft, Prozac, Klonopin and Haldol are administered to help control depression, spastic movements and violent outbursts. As the disease progresses, the patient will lose the ability to speak. Family and friends need to understand that the patient's inability to speak does not necessarily interfere with his/her ability to hear and process information. When in the presence of someone with Huntington's disease, always speak as though you know the patient understands what you are saying. Many people make the mistake of treating the person with this or any other debilitating disease as though they are a piece of furniture, not being able to comprehend anything, and that is wrong.

Can Huntington's disease be prevented?

The only way to prevent Huntington's disease is to avoid passing on the defective gene. If you or your husband has Huntington's disease, and you want to have children, you might want to discuss the option of in-vitro fertilization, in which the fertilized gametes are allowed to grow into an embryo. Before implantation into the womb, the embryo is checked for the presence of the mutated gene. If you both have the disease, the defective gene will be present in both the sperm and the egg. In the case of definitely passing on the defective gene, you and your spouse may want to choose in-vitro with donor embryos, or you may choose another option, such as adoption.

What about self-care in relation to Huntington's disease?

If you have Huntington's disease, you may burn up to 5,000 calories per day due to the constant movement of your body. You or your caregiver will need to monitor your food intake to properly maintain a healthy weight. Try to remain active, doing the things you enjoy, for as long as you can. Some patients wear padding on their elbows, shins and knees to prevent injury from a fall.

Be sure to drink lots of water, especially in the hot months of the year, because patients with Huntington's disease are at risk for dehydration. If you have difficulty holding a glass to your mouth, you might want to try using a straw in the glass or use a drinking container equipped with a straw. The bottle is a good choice, because there is no spillage caused from the patient's jerking movements.

How does Huntington's disease affect the family?

The family of the patient may find it exhausting to care for him/her 24 hours a day. They may want to consider hiring someone to help provide patient care. Everyone needs a break. When one person has the disease, the rest of the family suffers from the fallout. The disease's progression may be so far advanced that the family can no longer cope with the everyday care and responsibility, and nursing home care is the only option.

Source: Mayo Clinic web site