A. Huntington's Disease was first described by a physician named George Huntington who, along with his father and grandfather in 1872, described a group of cases of a movement disorder noted to occur within families on Long Island.
Huntington's Disease is found worldwide with an incidence of 7-10 people per 100,000 people in Europe and North America. (That means approximately 25,000 cases in the USA.) It is caused by a defect in a gene on the 4th chromosome and is what we call AUTOSOMAL DOMINANT. In practical terms, this means that any child of a parent with the disease has a 50% chance of inheriting the same defective gene and having the disease themselves. The cruel trick here is that the average onset of Huntington's is between 35 and 40 years of age, often AFTER a person has already had children.
Huntington's is a disorder of movement, mentation (thought), and behaviour. There is a gradual and chronic onset and progression of the disease in otherwise healthy people. They begin by becoming restless, fidgety, clumsy, and progress slowly to incoordination, inarticulation of speech, grimacing and odd movements which they cannot control. At the same time, there is a slow but steady decline in their thought processes and dementia eventually sets in.
Now that the gene has been precisely identified, today's modern medicine offers testing for the presence of the defective gene. But the ethical debate around this subject continues. Should children of parents recently diagnosed with Huntington'd disease be tested for the defective gene? The relief of a negative test result would be wonderful. But what if the test result shows the defect? Should an 18 year old be told that in 20 years this is what will happen to them? As it stands now, the same modern medicine that can trace the gene still can't treat it. Although some medications are available to help with the movement disorder, side effects are real, and the pills cannot stop the progression of the disease. Just because we have the test, does that mean we should use it? Maybe, maybe not.
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