Wednesday, February 25, 2009

The Lonely Chromosome II: Huntington's Disease

Huntington’s disease is an autosomal dominant- movement, and cerebellar disorder first given its name that was well over a hundred years ago by a physician who had his surname to offer this devastating and degenerative brain disorder.

Huntington’s disease (HD) is progressive once symptoms manifest themselves within the victim- which is remarkably when that victim is middle-aged. Presently, there may be 30 thousand people with HD in the United States.

HD is a genetic disorder, and this single gene mutation attacks the basil ganglia part of the brain, which is at the base of the brain, and is responsible for, among other things, gait, stance, and movement. This is the same part of the brain that is affected by Parkinson’s disease as well.

A depletion of related neurotransmitters occurs as a result, and mental deterioration progresses once the symptoms are present. At times, various affective disorders appear from the victim before the involuntary and jerky movements uncoordinated are affecting the victim. Such movements may be followed by slow and involuntary movements of various body parts.

Since HD is a genetic disorder, if one carries this gene, the person’s offspring has a 50 percent chance of acquiring HD because of the mutant gene on chromosome 4.
Medicinal treatment for symptomatic control and relief is available for the HD patient. In addition, there are promising new treatments and therapies in development for HD.

While researchers strive to find a cure for HD, they continue to make recommendations to help the HD patient. One such recommendation is that for the HD patient manage their sleep symptoms to delay the progression of the disease to a degree. Also, researchers suspect an over-active immune system may contribute to this disease. If that is the case, then HD can be detected much earlier in the HD patient before the patient’s symptoms appear.

Death occurs often about 15 years after symptoms are shown in the HD patient from the deterioration of the patient’s brain, and the results of this atrophy eventually lead to death of the HD patent.

Dan Abshear

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