Huntington's Disease

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The condition Huntington's Disease got its name because it was first described by George Huntington, a physician in New York, in 1872. It use to be commonly known as Huntington's Chorea - chorea being the Greek word for dancing and describing the strange movements of the sufferer. Most people now refer to it as Huntington's Disease or HD for short. The illness probably occurs all over the world, though it has not been thoroughly researched in many places, particularly in underdeveloped countries. The illness begins gradually, usually in one or the other following ways: by a change in usual behavior, for example, depression, moodiness, unreasonable outbursts of anger out of character for the individual, or by unusual jerky, fidgety movements and perhaps unsteadiness of the hands or feet causing falls and a tendency to be clumsy. These are early signs. They are mild and increase so slowly that they may go unnoticed and it is only much later, when looking back, that relatives realize all has not been well for some years. These changes are thought to come about because of a disturbance of one of the chemical substances concerned in normal functioning of the brain though it is not known exactly which chemical is involved. Over the years the illness goes on getting more severe, though the rate at which it progresses varies from individual to individual. However, once it has started, it goes steadily on. The ungainly jerky movements, over which the sufferer has no control, increase, causing falls and making walking difficult. Speech usually becomes slurred and swallowing difficult. Some, though not all, will at times become confused and forgetful, at other times angry and unreasonable and possibly violent. Alternatively, some people become quite passive. But the illness has its ups and downs and some days the ungainly movements and irritability are less. This changing state is confusing and frustrating for both sufferers and their families. At present there is no known cure, though medicine may lessen the jerky movements, and sympatheticand understanding care can help to keep the sufferer less agitated and so less liable to unreasonable behavior. Ultimately, it may become too difficult to care for the sufferer at home. The illness usually lasts 15-20 years, although it may be considerably longer. Death is often from pneumonia because sufferers cannot cough well enough to clear the chest if they have infections. The most common age of onset of the illness is between the age of 30 and 50 years, although it can manifest itself at almost any age. Both men and women are affected and it is estimated that perhaps 6,000 people now have the illness in the United Kingdom. HD is hereditary and runs in families in a way that is well understood. It is called a dominant disorder. It is known for certain that HD is a dominant disorder and that the abnormal gene needs to be present on only one member of a gene pair for the individual to develop the disorder. This means that each time an individual who has the gene for HD (though he may not yet have signs of it) has a child, there is a 1 in 2 chance that the child will inherit the HD gene. There is also a 1 in 2 chance that the child will inherit the normal gene. Everyone who inherits the HD gene will eventually develop the disorder unless he or she dies from some other cause before the signs appear Because they are like their affected parent in, say, stature or skin or eye color, some people fear they may also have inherited the HD gene too. Physical or temperamental likeness to an affected parent does not imply that the child has also inherited the HD gene; nor does it change the 1 in 2 risk. It can only be said that, on average, half the children of a sufferer will inherit the gene. This does not mean, for example, that precisely 2 out of 4 or 3 out of 6 children in a family will inherit it, but that every child has a 50/50 chance of getting it. Some families are lucky and perhaps 4 out of 4 children will escape; other families, less fortunate, demonstrate that 4 out of 4 can be affected; but the chance for any other child remains 1 in 2. When large numbers of families containing many children are studied, the proportion of 1 in 2 (or 50/50) affected is regularly seen. For some time researchers have known that the gene for HD was near the end of chromosome 4. Since the discovery of the HD gene in March 1993, a new predicting test has been developed. This can identify the carriers of the faulty gene before they develop the illness. After a number of counseling sessions at a genetic clinic, blood samples are taken from the person who wishes to be tested. The DNA which is extracted from the blood is then analyzed in a special laboratory. Occasionally the result falls in a 'gray area' where it is still uncertain whether the person will develop HD or not. Even when the test does show that someone has the faulty gene, it still does not show the age at which the disease will start to develop There is a different type of test which can be carried out on a fetus. This test analyses DNA from several family members using markers linked to the gene. It shows whether the baby is at low risk of inheriting the faulty gene or at the same risk as the parent who is at risk but so far unaffected. All over the world research is going on into Huntington's Disease. On

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