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Huntington's Disease Essay

1708 words - 7 pages

Huntington’s disease is a degenerative neurological disorder affecting movement, cognition, and emotional state (Schoenstadt). There are two forms of Huntington’s disease (Sheth). The most common is adult-onset Huntington’s disease, with persons usually developing symptoms in their middle 30s and 40s (Sheth). There is an early onset form of Huntington’s disease, beginning in childhood or adolescence, and makes up a small percentage of the Huntington’s population (Sheth). Huntington’s disease is a genetic disorder with a short history, a plethora of symptoms, and devastating consequences, with no current cure in sight.
Cases of Huntington’s disease date back to the early seventeenth century, but those records are basic, with no convincing descriptions (Folstein). George Huntington’s paper was the best and first to describe Huntington’s disease, which was presented at a meeting of “Meigs and Mason Academy of Medicine at Middleport, Ohio, in 1872,” (Folstein). Shortly after 1900, papers on Huntington’s disease gradually began appearing in case reports and psychiatric literature (Folstein). In 1936, Huntington’s disease appeared twice in two different letters to an editor about eugenics, which is defined as “improving the species by regulating human reproduction,” (Bakalar). These letters named Huntington's disease as one of five diseases that should be considered for voluntary sterilization (Bakalar). In 1967, the first symposium devoted to Huntington’s disease was held inside of a larger conference on neurogenetics in 1967 (Folstein). By 1968, George Willem Bruyn had published the first complete review of all of the Huntington’s disease literature that had been published up until that point in time (Folstein).
In normal circumstances, every child receives genetic information, in the form of chromosomes, from their parents, twenty-three from the mother, and twenty-three from the father (Appai-Kubi). Every cell within the body contains all of these chromosomes, which have bases arranged to form a code (Appai-Kubi). The four bases, cytosine, adenine, guanine, and thymine, interact to form the fundamental structure of DNA (Appai-Kubi). Huntington’s disease is found on the fourth chromosome and is identified by a sequence known as the “CAG repeat,” (Appai-Kubi). In someone who is not afflicted, the number of “CAG repeats,” ranges from 10 to 28 (Sheth). Typically, more than 35 “CAG repeats,” is associated with Huntington’s disease, however, there are cases with people not afflicted having up to 39 “CAG repeats,” (Appai-Kubi). The number of repeats generally increases as the gene is passed on through families. An increase number of “CAG repeats,” generally means earlier development of symptoms (Sheth). ). Huntington’s disease is inherited through an autosomal dominant pattern; meaning that whoever inherits the faulty gene will definitely develop the disease during their lifetime (Genetic Science Learning Center). A parent with the Huntington’s disease...

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