Huntington Disease

Recently, I received a call from a mother whose daughter suffers from Huntington disease. She requested that information be shared with the public regarding this devastating genetic condition.

The disease was named after Dr. George Huntington who first described the condition in 1872. Like a number of other genetic conditions, Huntington disease has a delayed onset. Symptoms of this disease usually do not begin until age 30 and older.

Huntington disease (HD) is a true autosomal dominant condition, meaning that an individual has a 50% risk of inheriting the disease from an affected parent. Huntington disease affects approximately 1/20,000 Caucasians.

The search for the HD gene began in a fishing village on Lake Maracaibo, Venezuela. Seven generations ago, in the 1800’s, a local woman wed a Portuguese sailor who, stories say, always walked as though intoxicated. Together they had several children, many of whom later walked as their father. Of the couple’s 5000 descendants, 250 have HD. This family formed the primary base for the HD gene search. In 1983 the gene was identified and mapped to chromosome 4.

HD is a degenerative brain disorder for which there is presently no cure. Patients experience a progressive loss of motor control resulting in increasingly uncontrollable movements of the limbs (chorea). Accompanying this loss of motor control is progressive dementia with psychotic and behavioral problems. It is a protracted illness with death usually occurring 15-20 years after the initial diagnosis.

Certain medications can be given to help control limb movements. Antipsychotic drugs and antidepressants are used to combat the progressive brain deterioration. Genetic testing is available that would allow individuals to know definitively if they carry the disease gene. Individuals must realize that there is no cure for the disease.

HD profoundly affects families emotionally, socially, and economically. Support groups exist to provide individuals and families with current information and emotional support.

Additional information may be received through Huntington’s Disease Society of America at www.hdsa.org.