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Lesch-Nyhan Syndrome Research Paper

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Lesch-Nyhan Syndrome parents having the option of abortion. Lesch-Nyhan is a genetic disease that is linked to the X chromosome. Males only develop symptoms, such as self-injuries, rapid jerking movements, and early deaths. Females do not get the symptoms because of the health X chromosome prevents them getting the disease, and they become a carrier. A mother has a 50/50 chance of giving her offspring the infected chromosome, a father cannot pass the disease. A male can have a mutation while developing, if the disease is not passed on from his mother. There is no cure, but there are some treatments such as prescribed drugs to help lower and relax most symptoms. Some doctors recommend having patients getting their teeth removed to prevent self- …show more content…

From birth in their adolescent years they will experience a lot of self-injurious and sabotage in bodies. The children will grow up in a hospital most of their lifetime due to their condition. The disease is a genetic carrier connected to the X chromosome. A female 's genetic code is XX, only one of those X’s becomes infected and the other X prevents the disease from developing completely and that is why females are a carrier. A male’s code is XY and does not have another X to prevent the disease from developing completely. It only could be passed by the mother, a father cannot pass the disease to the offspring. When the male offspring does not get the infected chromosome it comes from have a mutation when developing in the womb. Testing can help mothers who do not know if they are the carrier or if their offspring has the disease. There is no cure for Lesch-Nyhan Syndrome, but treatments can help lower and relax the symptoms and body. Treatments such as prescribed drugs can help lower uric acid, relax muscle movement, and behavior problems. Another treatment is soft restraints, this is used to help reduce patient 's self-harm or injuries from hands. Lesch-Nyhan Syndrome also causes early deaths, mostly of kidney stones. Patients back then lived until teenage years because doctors and specialist did not know much about the disease, but today …show more content…

Preston, Richard. “The Self-Cannibals.” Panic in Level 4: Cannibals, Killer Viruses, and Other Journeys to the Edge of Science, Random House, New York, 2008, pp. 150–179. Ishmael, MS, CGC, Holly Ann, and Rebecca J. Frey, PhD. “Lesch-Nyhan Syndrome.” The Gale Encyclopedia of Genetic Disorders, edited by Tracie Moy and Laura Avery, 4th ed., vol. 2, Gale, Farmington Hills, MI, 2016, pp. 1060–1063. Science in Context, link.galegroup.com/apps/doc/CX3630400305/SCIC?u=fair10233&xid=daa18de9. Accessed 13 Jan. 2017. “Lesch-Nyhan.org.” Lesch-Nyhan.org, www.lesch-nyhan.org/. Accessed 10 Feb.

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Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

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In 1966, while Dr. Oliver Sacks was on the staff of a New York hospital, he came across some very unusual patients. About a third of all victims died, and others could not sleep and so lost their lives as well. Still others fell into a deep coma in which they spent the rest of their lives. Ultimately, their long illness cost them a great deal because they never grew beyond the time almost fifty years before when they caught the disease.

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However, the symptoms may vary greatly among individuals. Still, there are five requirements that almost all patients with FD meet.4,5 Patients typically are of Ashkenazi Jewish heritage, do not have fungiform papillae on the tongue, cannot produce tears, have diminished patellar reflexes, and do not demonstrate an axonal flare after histamine is injected (normal patients develop a small red bump, but FD patients do not).4,5 If these symptoms are present, the disease can be diagnosed via a DNA test for known mutations on the IKBKAP gene. Familial dysautonomia is an autosomal recessive disorder, which is a result of mutations in the IKB kinase-complex-associated protein (IKBKAP) gene, located on chromosome 9(q31).1,2 Over 99% patients with FD have a homozygous point mutation (TC) at the donor splice site on intron 20.2,4

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The condition is suspected to be inherited as an autosomal recessive trait with incomplete penetrance.

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This disease doesn’t make the person act any differently so it is not easily found in patients unless they are vocal about their potential disease. Haley’s friends sensed there was something wrong when Haley would ignore them, and wouldn 't speak to them on a regular basis. They notified HaleHaley finally worked up the courage to tell her father who eventually told her to see a psychiatrist. Haley went in to a psychiatrist who then tried his best to figure out what was wrong with her when he finally found out

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Klienfeltor syndrome is a chromosome condition that affects male development. 47, XXY when someone has two X and one Y chromosome. Normally Males have an X and a Y chromosome, and females normally have two X chromosomes. People with Klinefeltor syndrome normally have two extra sex chromosomes in each cell. Klienfeltor syndrome affects one in 500 to 1,000 newborn males.

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How would you feel if your parents constructed you, would you feel dehumanized, or how about deprived of your individuality? Advances in medicine, like designer babies, are not beneficial because designer babies can only be used by the rich, babies lose their individuality, and genes are not perfect. The only reason the rich can use this is because it cost $100,000. If you decide to create your own baby you could change anything from their hair color to what diseases they get. Genes are not perfect because not all diseases can be cured by this process and people think this process can cure any diseases they do not want their child to have.

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If you get the gene from your parents, you can pass it on to your children,

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