Huntington's Disease

Symptoms,diagnostic tests, treatment and resources for Huntington's Disease.

In 1872 an American doctor, George Huntington, wrote about his observations concerning a strange, hereditary illness that made its victims squirm, twist and writhe uncontrollably. Although he was not the first to describe this nervous disorder, he is the one whose name was attached. Before Dr. Huntington the disease was known as "Chorea."

As stated, Huntington's Disease (HD) is a hereditary problem that seems to run in successive generations of a family. It destroys the ability to feel, think or move. It wasn't until 1993, when the gene (located on chromosome 4) that causes Huntington's Disease was found in a laboratory headed by molecular geneticist James Gusella at Massachusetts General Hospital, that researchers began to have a better understanding of the disorder. Because of this discovery a test has now been developed to allow family members of patients with Huntington's Disease to find out if they too carry the disease. Knowing the results either way can cause severe emotional stress and testing is only done after the person has undergone psychological counseling. Regardless of the results, it is recommended these people come in for follow-up counseling as well.

There is an estimated one person in every ten thousand that has Huntington's Disease. At that ratio there are approximately thirty thousand with the disease in the United States alone. Each child of a Huntington's Disease patient has a fifty percent chance of inheriting the disease, which means approximately 150,000 people are said to be at risk.

Huntington Disease affects both the mind and the body. Although it normally presents symptoms in patients between thirty and fifty years of age, it has been seen as young as two and as old as seventy. In many cases, the earlier the onset the faster it progresses in the patient. The younger patient's first symptom may be seizures or even a decline in school or work performance. The typical progression of Huntington's Disease takes between ten and thirty years while the most common cause of death is pneumonia during the end stage, when the patient has become bedridden.

The disease can affect males and females as well as all races and ethnic groups. Unlike many inherited problems, Huntington's Disease does not skip a generation. If your parent has the disease and you don't, your children will not develop Huntington's Disease.

Symptoms:

Early symptoms of Huntington's Disease can be subtle, while varying from person to person. Many times these symptoms are overlooked or misdiagnosed. The patient may show signs of mood swings, irritability or depression. They may also become apathetic, lethargic or angry. In some cases these symptoms will disappear as the disease progresses.

Early symptoms of HD are subtle, can vary from person to person, and are easily overlooked or misinterpreted. The afflicted person may experience mood swings, become irritable, apathetic, lethargic, depressed or angry. Sometimes these symptoms will actually disappear as the disease progresses.

Motor Functions:

Huntington's Disease can cause the patient to lose certain motor functions. Their speech may become slurred, they may show signs of mild clumsiness, their hand writing may deteriorate and they will often have problems with coordination and balance. Many times the patient will appear intoxicated to an observer.

Cognitive Functioning:

As the disease progresses, the patient will have difficulty concentrating or remembering things. Their personal judgment is often affected and may have difficulty driving, making decisions or being able to answer simple questions. It isn't uncommon for a patient of Huntington's disease to be unable to remember who relatives or friends are.



Movements:

Patients with Huntington's Disease will often have uncontrollable movements in the fingers, hands, feet, face or torso. These movements or "tics" are the beginnings of 'chorea' or writhing movements. These symptoms can often become worse the more upset or stressed the patient becomes. Other patients may not show signs of chorea but instead become rigid and unable to move much if at all. This condition is called "akinesia."

Diagnosis:

DNA testing is one of the tools doctors have for diagnosing Huntington's Disease. The test requires a blood sample from the patient, which is then analyzed. The test checks for the number of times the genetic code for the Huntington's Disease gene is repeated. Patients that are diagnosed with the disease will usually have forty or more of these repeats. For those that don't have the disease, they will have twenty eight or less. For those patients whose results fall between twenty-eight and forty repeats, their doctor will order extensive neurological examinations. These will include tests of the patient's hearing, eye movements and control, strength and reflexes. Additional tests will check balance, mental or emotional problems and a large number of laboratory tests.

In addition to the above tests, the neurologist may order a computed tomography (CT) scan. This particular test is painless and produces a computer-generated picture of the interior of the brain. A doctor who orders a CT scan will be looking for shrinking in the caudate nuclei and putamen areas of the brain. It will also often show enlargements of the brain's ventricles.

Treatment:

There is no cure for Huntington's Disease and, once diagnosed, the patient is treated symptomatically. In other words, any medications prescribed will only help to control specific symptoms. Once a patient is diagnosed with Huntington's Disease, their doctor will may prescribe the following:

Clonazepam - This drug may help to lessen the tics and uncontrollable movements.

Haloperidol - This drug is used to attempt the control of hallucinations, delusions and angry or violent outbursts. This drug will not be used if the patient has muscular contractions that cause him or her to become stiff or rigid.

Pamelor/nortiptyline, Fluoxetine - These drugs will often help with the patient's depression.

Tranquilizers - Patients of Huntington's Disease will often show high levels of anxiety and tranquilizers may help in its control.

Lithium - This may be prescribed if the patients show signs of manic behavior or severe mood swings.

Patients and their families are urged to seek help and support for dealing with the long-term effects of Huntington Disease in advance of the onset of the more severe symptoms. They will want to, if possible, draw up wills and all important documents early so legal problems are less likely to occur later.

The families are also urged to check out the Federal, state and local programs that will aid in the domestic, nutritional and nursing needs of the patient. If the patient has no family, some cities have group housing facilities.

While most families will want to keep the loved one at home, very often the nursing needs of the patient overwhelm the loved ones and institutional care (nursing home) may be needed. There are certain facilities that specialize in specific conditions and the family may want to check these out well in advance of the actual need.

To find help or more information about Huntington's Disease, there is a non-profit national voluntary heath organization dedicated to the disorder:

Huntington's Disease Society Of America

140 West 22nd. St. 6th Floor

New York, NY 10011-2420

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