Huntington+Disease

Victoria Chang :), Danette Valora, Malina Kelemen

= HUNTINGTON'S DISEASE = **CAUSES** Autosomal or sex linked? Chromosome (which #) or Gene mutation (which gene?) It was found by George Huntington in 1872. It’s caused by a genetic defect on chromosome #4. This defect causes a part of the DNA, called “CAG repeat” to occur more than it’s supposed to. Usually this is repeated 10 to 35 times, but for people with the disease it happens 36-120 times. [|(http://www.alz.org/alzheimers_disease_huntingtons_disease.asp?WT.mc_id=huntingtons_02&gclid=CM_KpYyUtacCFQ975QodmCNR-Q)]

[|(http://www.ucl.ac.uk/news/news-articles/1012/s4_cropped.jpg)]

It’s a rare fatal disorder caused by inherited changes in a single gene. It is passed down through families in which certain nerve cells in the brain degenerate. Anyone with a parent with Huntington’s has a 50% chance of inheriting the gene. Everyone who inherits it will eventually develop this disorder. In 1-3% of the cases, no history of the disease can be found in other family members. As the gene gets passed down from generation to generation, the number of repeats increases.
 * WHAT IS THE PATTERN OF INHERITANCE**

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Physicians prescribe a number of medications to help control emotional and movement problems associated with HD. In August 2008 the U.S. Food and Drug Administration approved tetrabenazine to treat Huntington’s chorea, making it the first drug approved for use in the United States to treat the disease**.** Most drugs used to treat the symptoms of HD have side effects such as fatigue, restlessness, or hyperexcitability. It is extremely important for people with HD to maintain physical fitness as much as possible, as individuals who exercise and keep active tend to do better than those who do not ([])
 * TREATMENT**

There is no way to prevent the onset of HD if a person has inherited the gene for the disorder. Medicines aimed at slowing and treating the disease progression are being studied. A prospective parent with HD or a family history of HD can seek genetic counseling when deciding whether or not to have children. Genetic counseling is extremely important since their children will have a 50% chance of inheriting HD. ([])
 * PREVENTION**

A blood test is now available that can determine, in almost all cases, whether a person has the HD gene. This test cannot, however, predict when symptoms will begin or the course of the disease. There are three categories of testing:
 * TESTING**
 * 1) Presymptomatic testing, for people at risk for HD, is the type of testing which will be discussed in greatest detail in this publication.
 * 2) Confirmatory testing determines whether people showing possible symptoms actually have HD.
 * 3) Prenatal testing is used to determine whether a fetus is at risk for HD. This can be done by amniocentesis or chorionic villus sampling (CVS).


 * CHARACTERISTICS OF THE DISORDER **

The earliest name for this disease was chorea, the Greek word for "dance", because of the twisting and writhing motions of the people affected with this disease. Now it has evolved to Huntington chorea, more commonly called Huntington Disease, named after the primary researcher/ discoverer George Huntington. 15000 Americans have this disease and 150000 others have a 50% chance of getting it.

Huntington’s disease, as stated before, causes malfunction of certain areas of the brain .This causes an irregularity in the transmitting of signals from the brain to the rest of the body. These irregularities are revealed as symptoms such as
 * SYMPTOMS / EFFECTS**

Antisocial behaviors Hallucinations  Irritability  restlessness  Speech changes  Anxiety/stress  Difficulty swallowing  Rigidity/slow movements

<span style="font-family: Arial,Helvetica,sans-serif;">These symptoms intensify over time and eventually lead to loss of memory, judgment, and even the ability to care for themselves. The speed at which the disease takes effect varies for each person. Unfortunately, most people with this disease usually die within 15 to 20 years.

[|http://www.nlm.nih.gov/medlineplus/ency/article/000770.htm] []