genetic diseases

genetic diseases - Huntingtons disease

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Huntington’s disease http://www.hdsa.org/about/our-mission/what-is-hd.html Named for Dr. George Huntington, who first described this hereditary disorder in 1872 HD It is one of the more common genetic disorders. o More than a quarter of a million Americans have HD or are "at risk" of inheriting the disease from an affected parent. o HD affects as many people as Hemophilia, Cystic Fibrosis or muscular dystrophy. It is a hereditary, degenerative brain disorder. HD slowly diminishes the affected individual's ability to walk, talk and reason. Cognitive, motor, and behavioral domains are affected. o Early Huntington’s symptoms affect cognitive ability or mobility (depression, forgetfulness, involuntary twitching and lack of coordination) o As the disease progresses concentration and short term memory weaken and there is an increase in involuntary movements (chorea) of the head, trunk and limbs. Walking speaking and swallowing abilities deteriorate. o Eventually unable to care for themselves o Death does not result from the actual disease but from complications (choking, infection, heart failure, etc) CAG codon : repeated 40 or more times along part of the Huntington gene in people who have HD o The higher the CAG repeat, the more likely HD will be exhibited at a younger age There is currently no cure and only one FDA-approved treatment (Xenazine) for a symptom of HD Usually begins between ages of 30-50 (but can be as early as 2) o Average lifespan after onset is 10-20 years o The younger the age of onset, the quicker HD progresses Affects males and females equally, and all ethnicities and races. o
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This note was uploaded on 01/26/2012 for the course 830 201 taught by Professor Leyton during the Spring '08 term at Rutgers.

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genetic diseases - Huntingtons disease

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