Huntington's disease (HD), also known as Huntington's chorea, is a progressively deteriorating and destructive disease that is inherited and where certain neurons (brain cells) degenerate due to genetic programming. As HD progresses, the patient's ability to perform activities of daily living and self-care declines; basically, what is observed are involuntary movements, and cognitive and emotional deterioration with increasing dependence. Huntington's is incurable and profoundly affects everyone involved because of its devastating course.
Background and Prevalence
In 1872, Dr. George Huntington observed and described this tragic, familial disorder that now is acknowledged as a common inheritable disease that occurs equally among men and women of different cultures. According to the Huntington's Disease Society of America (HDSA), over 250,000 Americans have HD or are "at risk" of inheriting it from a parent who carries the mutated gene; specifically, a child has a 50-50 percent chance of getting the HD gene from an affected parent. The generational transmission of the disease is simple: If a child gets the mutated gene, then that individual will develop the disease at some point, and only those with the gene (and disease), can pass it on to their offspring. So, a sibling who did not inherit the mutated gene for HD does not have to worry about being a silent carrier to the next generation.
Symptoms
According to the National Institute for Neurological Disorders and Stroke (NINDS), the age of onset and disease progression varies from person to person, however, HD usually manifests between 30-50 years of age. While onset is generalized to this middle-age range, rare onset of devastating HD has occurred in children 2 years of age. Symptoms may include: irritability or aggressive outbursts, anxiety, depression and mood swings; lack of coordination with involuntary jerky movements (chorea), fidgety behavior and decreasing ability to walk, talk, drive, eat or swallow; impaired ability to concentrate, reason, or learn and remember things involving short-term memory. The diagnosed person eventually is unable to perform self-care and becomes totally dependent upon others.
Treatment and Prognosis
According to the NINDS, the U.S. Food and Drug Administration approved in 2008 a medication specifically developed to treat the symptomatic motor problems (uncontrolled jerky actions or chorea). This drug is the first to be approved specifically for the purpose of treating HD in the United States. The prognosis is ultimate affective, behavioral, cognitive deterioration; death commonly occurs from secondary complications, for example, choking due to the inability to swallow, or infection. The HDSA specifies life with progressive deterioration to be anywhere from 10-20 years after onset of the disease, and the disease process tends to advance quicker for those diagnosed at younger ages. If one has a family history of this disease, it is urgent that the individual get tested for HD.
