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Huntington's DiseaseHuntington's disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance. Huntington's Disease is a familial disease, passed from parent to child through a mutation in the normal gene. Each child of an Huntington's Disease parent has a 50-50 chance of inheriting the Huntington's Disease gene. If a child does not inherit the Huntington's Disease gene, he or she will not develop the disease and cannot pass it to subsequent generations. A person who inherits the Huntington's Disease gene will sooner or later develop the disease. Whether one child inherits the gene has no bearing on whether others will or will not inherit the gene. Some early symptoms of Huntington's Disease are mood swings, depression, irritability or trouble driving, learning new things, remembering a fact, or making a decision. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty feeding himself or herself and swallowing. The rate of disease progression and the age of onset vary from person to person. A genetic test, coupled with a complete medical history and neurological and laboratory tests, help physician's diagnose Huntington's Disease. Presymptomic testing is available for individuals who are at risk for carrying the Huntington's Disease gene. In 1 to 3 percent of individuals with Huntington's Disease, no family history of Huntington's Disease can be found. Is there any treatment? Physicians prescribe a number of medications to help control emotional and movement problems associated with HD. Most drugs used to treat the symptoms of Huntington's Disease have side effects such as fatigue, restlessness, or hyperexcitability. It is extremely important for people with Huntington's Disease to maintain physical fitness as much as possible, as individuals who exercise and keep active tend to do better than those who do not.What is the prognosis? At this time, there is no way to stop or reverse the course of Huntington's Disease. Now that the Huntington's Disease gene has been located, investigators are continuing to study the Huntington's Disease gene with an eye toward understanding how it cause disease in the human body. What are the Major Effects of the Disease? Early signs of the disease vary greatly from person to person. A common observation is that the earlier the symptoms appear, the faster the disease progresses.Family members may first notice that the individual experiences mood swings or becomes uncharacteristically irritable, apathetic, passive, depressed, or angry. These symptoms may lessen as the disease progresses or, in some individuals, may continue and include hostile outbursts or deep bouts of depression. Huntington's Disease may affect the individual's judgment, memory, and other cognitive functions. Early signs might include having trouble driving, learning new things, remembering a fact, answering a question, or making a decision. Some may even display changes in handwriting. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult. In some individuals, the disease may begin with uncontrolled movements in the fingers, feet, face, or trunk. These movements-which are signs of chorea-often intensify when the person is anxious. Huntington's Disease can also begin with mild clumsiness or problems with balance. Some people develop choreic movements later, after the disease has progressed. They may stumble or appear uncoordinated. Chorea often creates serious problems with walking, increasing the likelihood of falls. The disease can reach the point where speech is slurred and vital functions, such as swallowing, eating, speaking, and especially walking, continue to decline. Some individuals cannot recognize other family members. Many, however, remain aware of their environment and are able to express emotions. Some physicians have employed a recently developed Unified Huntington's Disease Rating Scale, or UHDRS, to assess the clinical features, stages, and course of Huntington's Disease. In general, the duration of the illness ranges from 10 to 30 years. The most common causes of death are infection (most often pneumonia), injuries related to a fall, or other complications. What research is being done? Scientific investigations using electronic and other technologies enable scientists to see what the defective gene does to various structures in the brain and how it affects the body's chemistry and metabolism. Laboratory animals are being bred in the hope of duplicating the clinical features of Huntington's Disease so that researchers can learn more about the symptoms and progression of Huntington's Disease. Investigators are implanting fetal tissue in rodents and nonhuman primates with the hope of understanding, restoring, or replacing functions typically lost by neuronal degeneration in individuals with Huntington's Disease. Related areas of investigation include excitotoxicity (overstimulation of cells by natural chemicals found in the brain), defective energy metabolism (a defect in the mitochondria), oxidative stress (normal metabolic activity in the brain that produces toxic compounds called free radicals), tropic factors (natural chemical substances found in the human body that may protect against cell death).
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Sources: National Institutes of Health |
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