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Huntington’s Disease

Huntington’s Disease. Michael Ou Pierce Lam. History of the disease and famous people who have the disease. Huntington's Disease was first recognized as an inherited disorder in 1872 when a 22-year-old American doctor, George Huntington, wrote a paper called On Chorea .

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Huntington’s Disease

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  1. Huntington’s Disease Michael Ou Pierce Lam

  2. History of the disease and famous people who have the disease Huntington's Disease was first recognized as an inherited disorder in 1872 when a 22-year-old American doctor, George Huntington, wrote a paper called On Chorea. "Chorea" comes from the Latin and Greek words meaning chorus or a group of dances. The term was given to many so-called "dancing disorders" that became noticed in the Middle Ages. In those days, people with chorea, like the involuntary muscle jerks and twitches characteristic of HD, were often thought to be possessed by devils. It is believed that at least one of the alleged "witches" executed in Salem, Massachusetts in the 1690's had HD. Woody Guthrie- American singer-songwriter and folk musician, His best-known song is "This Land Is Your Land“ October 3, 1967: Woody Guthrie died of Huntington's Chorea in Queens, NY.

  3. What are the Symptoms of HD? • Everyone who inherits the faulty gene will eventually get the disease. However, there is no obvious phenotypic effect until the individual is above the age of 30. • Huntington’s Disease causes degeneration in nerve cells, called neurons, in the brain. The specific regions which are targeted are the basal ganglia, a central region of the brain, which controls basic coordination of body movements, and also the cortex, or the main outer region of the brain, which is responsible for thought, perception, and memory. • This degeneration causes loss of intellectual faculties, poor memory, depression and/or mood swings, emotional disturbance, lack of coordination, uncontrolled movements, and difficulty walking. • Eventually, a person will even need help doing even simple tasks, such as getting dressed.

  4. How do you get Huntington’s Disease? • Huntington’s Disease is an autosomal dominant disorder because only one defective gene is necessary from one of the parents is necessary for the offspring to have Huntington’s Disease as well. This means that one of the parents must have Huntington’s Disease in order for the children to have it. • It is a familial disease, passed from parent to child through a mutation or misspelling in the normal gene. A parent with a mutation in the HD gene has a 50 percent chance of passing on the disease to their children. • Specifically, the defect is located on the Huntingtin gene on chromosome 4. The gene is responsible for coding the huntingtin protein. The gene includes the DNA sequence “CAG” repeating 10 to 26 times in average humans. However, people affected with Huntington’s Disease have this CAG triplet repeating over 40 times. Which results in the accumulation of clumps of protein that become toxic, and eventually causing the cell to die.

  5. What is life like for people and their families with the disease • People that have HD may find it difficult to feed themselves and to swallow. As the disease progresses, persons with HD may even choke. • Individuals also having trouble driving, learning new things, remembering a fact, answering a question, or making a decision; as the disease progresses, concentration on intellectual tasks becomes increasingly difficult. • Families must deal with members having mood swings or becoming irritable, apathetic, passive, depressed, or angry. • Problems may arise when individuals try to express complex thoughts in words they can no longer pronounce intelligibly. Family members must never isolate individuals by not talking, and try to keep their environment as normal as possible. Speech therapy may improve the individual's ability to communicate. • Eventually the individual slowly looses control of their movements, actions, and abilities and must depend on a person or persons for all their activities of daily living.

  6. How the disease is treated; how can the disease be prevented? • Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease. • However, most drugs used to treat the symptoms of HD have side effects such as fatigue, restlessness, or hyperexcitability.

  7. Works Cited • http://www.medicinenet.com/huntington_disease/article.htm • http://learn.genetics.utah.edu/content/disorders/whataregd/hunt/ • http://www.genome.gov/10001215 • http://www.hdac.org/caregiving/pdf/NursingCareInLateStageHD.pdf • http://www.woodyguthrie.org/biography/biography7.htm • http://www.ahdansw.asn.au/information/faq_history.html • http://mysterytricycle.com/tag/singer-songwriter

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