What is Huntingtons Disease?

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Huntington's disease, also called Huntington disease, Huntington's chorea, chorea major, or simply HD, is the most common genetic cause of chorea.

This incurable, genetic neurodegenerative disorder was named after the American physician George Huntington who accurately described it in 1872.

Globally, prevalence per country is up to 7 people in 100,000 (in populations of Western European inheritence), and can be much higher in localized regions. Onset of physical symptoms can begin at any age, although the mean age of onset is 35 to 44 years of age.

Less commonly, onset is before the age of twenty, and the condition is classified as juvenile HD- which progresses faster with slightly different symptoms. In 1993 a genetic test was possible with the discovery of a single causal gene, the first non-sexlinked dominant disease gene to be found, as such counselling for HD had to be developed and became a model for other dominant disorders. The test can be performed before the onset of symptoms, at any age - even pre-birth, which has raised various ethical issues and their debate is heated. 

The disease runs strongly in families: it is inherited dominantly so offspring from an affected person are 50% at risk of suffering it. The exact way HD affects an individual varies, even between family members, but there is a characteristic progression. The earliest symptoms are a general lack of coordination and an unsteady gait. 

As the disease advances uncoordinated, jerky body movements become more apparent, as does a decline in mental abilities and behavioral and psychiatric problems. Physical abilities are gradually lost until full-time care becomes necessary and the decline in mental abilities generally results in dementia. Although the disorder itself is not fatal, complications reduce life expectancy to around twenty years after diagnosis. 

The mechanism of the disease is not fully understood, but a number of factors have been identified. A mutation in the Huntingtin gene, causes the production of the mutant protein......................................end of sample.

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