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Would You Get Tested? March 18, 2007

Posted by Johan in Abnormal Psychology, Behavioural Genetics.
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The NY Times has a long story on what it’s like to be diagnosed with Huntington’s Disease early, decades before the first symptoms. In a cruel twist, the woman that the article follows works at a nursing home, looking after, among others, Huntington’s patients.

Huntington’s Disease is a heritable condition, which results in gradual but massive degradation of the brain. The condition is caused by an abnormal number of repeats on the short arm of chromosome 4, and the number of repeats predicts the onset of the disease. Initially, symptoms such as jerky, uncontrollable motions appear, but this is followed by personality changes, cognitive impairments, and loss of control over in particular the mouth and the face, eventually rendering the patient unable to swallow. Huntington’s Disease is a dominant trait, meaning that unlike other genetic diseases such as Haemophilia, you only need to inherit the disease from one parent. This, coupled with the rareness of the disease, means that in most cases, the child of a Huntington’s patient has a 50 % risk of inheriting the disease, unless both parents have Huntington’s or the afflicted parent is homozygous (ie, inherited the disease from both of their parents).

While a test has been available for some time, many people with Huntington’s in their family choose not to get tested, as a positive result is essentially a death sentence. The woman in the NY Times story seems to be of the opposite opinion: she felt that she could not plan her life until she knew how much time she would have.

I also came across a short documentary made by a man whose mother is afflicted. It’s a good opportunity to get a glimpse into what the disease is like.

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