Preparing for Your Huntington's Disease Clinic Visit
What is Huntington's Disease?
Huntington's disease is a dominantly inherited disease that results in degeneration or loss of brain cells in certain areas of the brain. Huntington's disease often begins in the fourth or fifth decade of life but may begin earlier. The degeneration in the brain causes uncontrolled movements, loss of intellectual abilities and emotional disturbances.
What Causes Huntington's Disease?
Huntington's disease is a genetic disease. People who have Huntington's disease have a 50 percent chance of passing it down to their children. The genetic abnormality results in degeneration of brain cells which affect movement and intellectual ability.
Huntington's Disease Symptoms
- Onset of abnormal, involuntary movements (chorea) is a hallmark in the clinical diagnosis. These movements may affect individuals at any stage of the disease and to different degrees of severity.
- Early symptoms: mood swings, depression, difficulty learning new things, remembering facts or problems making decisions
- Progressed symptoms: problems with concentration or intellectual tasks, difficult feeding or swallowing
- The speed of the disease progression is different from person to person and generation to generation
A definitive diagnosis of the abnormal gene defect leading to Huntington's disease can be obtained by DNA analysis (via a specialized blood test.) Genetic counseling is highly recommended prior to testing, especially in people that do not display obvious symptoms.
Despite progress in the genetics and diagnosis of this disease, a cure is not yet available. The treatment consists of symptomatic and supportive assistance. Extensive research is ongoing to develop a cure as well as to see if medications may slow the progressive degeneration of the brain cells. Although some medications, including Coenzyme Q10, creatine, Exelon, Namenda and riluzole, may show some promise, the medical management of Huntington's disease remains largely supportive at this time. Discussion with a knowledgeable physician is vital before beginning any medications.