Huntington disease (HD) is a hereditary neurological disorder. The disease causes certain areas of the brain to atrophy, or break down, faster than normal. The death of cells in a certain part of the brain results in a triad of clinical features that include changes in an individual’s motor (choreic movement), cognitive (thinking or reasoning) and emotional (personality changes or depression) abilities. Symptoms usually appear between the ages of 30 and 45. Although rare, symptoms of HD can appear as early as childhood as well as very late in life. The average duration of the disease is 15 to 25 years.
In the early stages of HD, perhaps even before a diagnosis is made, there can be some changes in reasoning, movement, and emotions. Often the affected person either does not notice or denies the changes. In some cases, a family member, employer, or health care professional may be the first to notice that something is different or “wrong.” In an early stage, a person can go about doing all of their usual daily tasks and is able to be active and maintain employment. Some of the most common early symptoms of Huntington disease include clumsiness, forgetfulness and depression. Of course, these are problems that anyone can experience, which makes it difficult to determine if these problems are indeed caused by the onset of HD.
As the disease progresses, the person typically begins to have trouble accomplishing daily tasks, especially employment. They can perform most of their usual roles, just not in the way they used to. They may be depressed, somewhat easy to anger, and resentful of suggestions that they are not performing well, but they continue to be independent and active.
In the later disease stages, a person can usually no longer manage employment or full household tasks and requires assistance and supervision in handling financial affairs. Activities of daily life, such as dressing and going to the bathroom, are impaired but can be managed with minimal help.
In the advanced stages of the disease, people are typically no longer independent in function, but they are capable of being supported within the family home or by minimal care in an extended care facility. Throughout the advanced stages symptoms typically continue to worsen until the person is no longer able to complete normal activities of daily living. Some affected persons will eventually no longer be able to function independently and may require continued professional health care for complete support with the activities of daily living. Death usually occurs from an associated condition, such as pneumonia or choking.
Remember that this is just a general list of symptoms. Every person affected with HD is different. Some people will have involuntary movements, some will not. Some will lose the power of speech; some will be able to speak. Many symptoms depend on the individual and on the availability of help and encouragement from family, friends, and health care professionals.
There are no treatments which will stop or reverse the disease at the present time. It is possible to treat some of the effects, such as depression and involuntary movements, with various medications. Improvements in general health, such as good nutrition, will bring about improvements in the condition of the person and in their enjoyment of life. Many scientists are working on finding treatments and a cure for HD.