Huntingtons

Huntington's Disease is an inherited "autosomal dominant" disorder. This means each child of a parent with H.D. has a 50% chance of inheriting the disease. It is a neurologic illness that results in problems that typically start between age 30 and 55.

This is usually manifest by involuntary movements. Early on these may be very minor twitches, of outstretched fingers, or fleeting movements of the muscles of facial expression. Over time these movements slowly become more dramatic and start to interfere with normal coordination. People will complain of increasing clumsiness, muscle jerking, dropping things,slurred speech, swallowing difficulties. This can unfortunately progress to a degree where the affected individual becomes dependant on others for care.

This can precede, coincide with, or follow the onset of the movement disorder. The changes may be very subtle, but can be severe. There may be depression, manic behavior, irritability, loss of insight, and judgement. People may become more withdrawn or isolated. There may be an inability to control the emotions. Some become uninhibited. There is a increased risk of suicide if these problems are not identified and treated.

Memory problems can precede, coincide with, or follow the onset of the movement disorder. Like the other features of Huntington's this comes on very slowly, with perhaps just a minor reduction in concentration initially. Over time the problems increase. There is a slowing of thought, loss of attentiveness, and decision making becomes more difficult. Complicated tasks are no longer possible, or lead to increasing stress. Calculation abilities start to fail. Memory for recent events becomes increasingly impaired. Affected people may eventually need help to manage their personal affairs.

The disorder progresses differently from one individual to the next. Typically within an average of 10 years of onset of symptoms, affected individuals will be dependant on others for care.

The cause is known to be an inherited defect resulting in a failure of nerve cell survival mechanisms. The genetic defect has been identified, and can now be identified in a blood test to confirm the diagnosis (DNA analysis). The abnormal gene results in the excess production of a protein that has been labeled "Huntingtin". Researchers have identified this protein and are now identifying the mechanism with which it kills nerve cells. Experimental studies are currently ongoing to attempt to stop Huntingtin's effects on nerve cells.

There currently is no known treatment to prevent or slow down the progression of Huntington's Disease. The currently available treatments are symptomatic. There are medications that can help reduce the involuntary movements, and control the psychiatric manefestations of the illness.

A variety of medications can be used to help settle the movement disorder. Treatment needs to proceed with caution. Frequently treatment settles chorea but the functional status of the patient is worsened. Medications that can settle the chorea include; Tetrabenazine, Reserpine, Trilafon (perphenazine), other Neuroleptics, and Haldol.

There are effective treatments for the majority of the personality changes that can occur (depression, sleep disorders, anxiety etc.). Psychoactive drugs of a variety of types may be useful depending on the type of Psychosocial problems encountered.

Unfortunately there is no available treatment for the memory disorder seen with this condition, and adjustments in the patient's life must be made as required to assist in their ability to cope despite these changes.

Planning for the future, and caregiver assistance is of extreme importance in the management of this condition.