Huntington’s Disease: a devastating, hereditary, degenerative brain disorder for which there is, at present, no cure. HD slowly diminishes the affected individual’s ability to walk, talk and reason. Eventually, the person with HD becomes totally dependent upon others for his or her care. Huntington’s Disease profoundly affects the lives of entire families — emotionally, socially and economically. More than a quarter of a million Americans have HD or are “at risk” of inheriting the disease from an affected parent.
Early symptoms of Huntington’s Disease may affect cognitive ability or mobility and include depression, mood swings, forgetfulness, clumsiness, involuntary twitching and lack of coordination. As the disease progresses, concentration and short-term memory diminish and involuntary movements of the head, trunk and limbs increase. Walking, speaking and swallowing abilities deteriorate. Eventually the person is unable to care for him or herself. Death follows from complications such as choking, infection or heart failure.
HD typically begins in mid-life, between the ages of 30 and 50, though onset may occur as early as the age of 2. Children who develop the juvenile form of the disease rarely live to adulthood. HD affects males and females equally and crosses all ethnic and racial boundaries. Each child of a person with HD has a 50/50 chance of inheriting the fatal gene. Everyone who carries the gene will develop the disease.
Some HD Symptoms
Involuntary movements (chorea, dystonia)
Difficulties with speech, swallowing, balance, walking
Problems with short-term memory, organizing, coping, concentrating
How long do you live after HD symptoms begin?
The average lifespan after onset of HD is 10-20 years. The younger the age of onset, the more rapid the progression of the disease.
What is genetic testing and what does it involve?
This is a process where blood is taken and analyzed to determine if the gene for HD is present. The result enables those who are “at risk” to learn whether they carry the gene or not. Few of those people “at risk” of HD opt to have the test performed given the fact that there are few therapeutic options available effective in combating the effects of HD.
Anyone considering genetic testing for HD is advised to work with a genetic testing center that follows HDSA’s genetic testing guidelines that include both pre-and post- test counseling. Only those over the age of 18 may be testing for HD unless they are exhibiting symptoms of the disorder. Genetic testing can also be utilized to confirm a clinical diagnosis of HD. The test cannot provide an age of onset. It can confirm only that an individual has or does not have the HD gene.