Senior Project Research Paper
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Senior Project Research Paper Document Transcript

  • 1. Torralba 1Nicole TorralbaMs. TilleryAP Literature17 November 2011 Muscular Dystrophy In a society where people are judged, being different makes it difficult to live a normallife. Unfortunately, this is what individuals diagnosed with muscular dystrophy have toovercome every single day of their lives. Performing strenuous activity is a challenge in itself.Daily tasks that people take for granted are treasured by these individuals. They are an inspiringpopulation and their strength speaks volumes about their character. A crippling disease, musculardystrophy is disastrous to the population it affects, but hope exists as organizations fund theresearch needed to find the cure that will save the lives of millions around the world. To begin with, affecting a large portion of the population, muscular dystrophy “refers to agroup of more than 30 inherited diseases that cause muscle weakness and muscle loss”(Muscular Dystrophy: MD). This degenerative disease causes the muscles to weaken over time.Healthy muscle tissues are inhibited in production which causes the deterioration of the musclesas fat builds up in the tissues. This renders individuals to lose their capability to walk or even situp straight. This disease is not contagious by any means as it is a genetic disorder and people areborn with it (Muscular Dystrophy). The disease may appear at an early age starting from infancyor it may be delayed until adulthood or even later. The different types of muscular dystrophy alldiffer in the stages of progression and the age to which it most likely appears depending on theindividual diagnosed.
  • 2. Torralba 2 With this in mind, the history of muscular dystrophy can be traced back to the 1830s in“Sir Charles Bell’s essay where he wrote about an illness that caused progressive weakness inboys” (Muscular Dystrophy: Hope Through Research). A similar case was reported shortly afterof two boys that possessed the same qualities reported by Sir Charles Bell in his essay. It wasthought to be tuberculosis at the time, but one sharp contrast that separated the two diseases wasthat muscular dystrophy caused the boys to grow so weak that they could no longer walk. In the1860s, the mysterious disease was finally diagnosed by French neurologist Guillame Duchenne.The most common form of the disease, Duchenne muscular dystrophy affects only young boysbetween the ages of 2 to 6 (Basic Facts about Muscular Dystrophy). In most cases, children withthe disease do not live past their teenage years. Specifically, muscular dystrophy is caused by genetic mutations. One mutation amongstthousands of other genes can cause someone to have the disease as the gene for musculardystrophy is coded during DNA synthesis. There are three different ways of inheriting musculardystrophy. “One way is through autosomal dominant inheritance wherein one parent carries anormal gene while the other parent has a defective gene” (Muscular Dystrophy: Hope ThroughResearch). The second way is through autosomal recessive inheritance where both parentspossess the mutated gene. The third way is through sex-linked recessive inheritance where one ofthe mother’s X chromosomes contains the gene for muscular dystrophy. Sadly, “Duchennemuscular dystrophy being the most common and most severe form of the disease affects about 1out of every 3,500 boys” (Clark). These individuals develop heart problems early on in life andmust be watched closely and be put on ventilation systems to help them breathe. Unfortunately, diagnosis of muscular dystrophy is sometimes not obvious. Children canbe born healthy and not exhibit signs of the disease until later on in life. Blood tests are usually
  • 3. Torralba 3the most accurate way of diagnosing muscular dystrophy. “A blood test such as determination ofserum creatine kinase (CK) is useful to diagnose MD, because this enzyme is released by thedamaged muscles. High levels of CK indicate a muscle disease such as muscular dystrophy.Other helpful tests are electromyography, ultrasonography, muscle biopsy and genetic testing”(Basic Facts about Muscular Dystrophy). Children are checked for this disorder if they startlosing their balance, develop scoliosis, or possess some mental deterioration. Daily activitiesstart to become too tiring as their muscles are too weak to perform any sort of demandingactivity. There comes a point in which they can no longer sit up and are constrained towheelchairs for the rest of the life they have left. As of right now, “there is no cure for muscular dystrophy, but medications and therapycan slow the course of the disease” (Muscular dystrophy: Treatment and drugs). Research iscurrently being conducted to further understand muscular dystrophy. Hopes are that in the future,the fast progression of the disease will be stopped and a cure will be found. Scientists are delvinginto gene therapy to determine how they can slow down the other types of muscular dystrophy.“The NINDS (National Institute of Neurological Disorders and Stroke) supports a broad programof research studies on MD. The goals of these studies are to understand MD and to developtechniques to diagnose, treat, prevent, and ultimately cure the disorder. The NINDS is a memberof the Muscular Dystrophy Coordinating Committee (MDCC)” (NINDS Muscular DystrophyInformation Page). Although there is no cure, there are treatments available that help ease thesymptoms of muscular dystrophy. Constant physical activity is highly advised to keep themuscles healthy and strong. Being inactive will cause the disease to worsen. “Physical therapymay help patients maintain muscle strength and function. Orthopedic appliances such as bracesand wheelchairs can improve mobility and self-care abilities. In some cases, surgery on the spine
  • 4. Torralba 4or legs may help improve function. Corticosteroids taken by mouth are sometimes prescribed tochildren to keep them walking for as long as possible” (Muscular Dystrophy: Inheritedmyopathy, MD). Individuals with muscular dystrophy have to maintain a healthy balance ofconstant exercise to stretch their muscles so they have the ability to keep walking as long aspossible until their muscles and joints deteriorate. Nevertheless, due to the vast number of people affected with muscular dystrophy,organizations such as the Muscular Dystrophy Association have been formed to assist thosestruggling with the disease. “The Muscular Dystrophy Associations mission is to foster andpromote the alleviation of the conditions of persons with muscular dystrophy and relatedneuromuscular disorders through support of basic and applied research seeking the causes of andeffective treatments for these diseases” (Muscular Dystrophy Association). This association iscomprised of scientists and day-to-day people who are concerned with those affected withneuromuscular diseases. Their goal is to find a cure for the disease that is currently affectingmillions of Americans. The Muscular Dystrophy Association was founded during the 1940s byPaul Cohen, a businessman who also had muscular dystrophy. Ever since MDA began, leadersand officers of the organization have beenindividuals diagnosed with muscular dystrophy.“Under their guidance, MDA has educated the public about living with disabilities, andsupported efforts to ensure people with disabilities enjoy equal rights and opportunities” (MDAAdvocacy). These individuals spread awareness of muscular dystrophy and are the voice of theassociation. They represent the millions of people that are affected by the disease and speak forthe benefit of these people. Undoubtedly, research for treatments and the cure for muscular dystrophy are very costly.When Paul Cohen founded MDA in the 1940s, he anticipated this and he set up one of the
  • 5. Torralba 5biggest fundraisers for the association. “Early to recognize the power of television to bolsterawareness and raise income for the Association, Cohen’s top fundraising priority was thepioneering work of establishing local Telethons featuring a variety of stars” (MDA Telethon).With the help of stars such as Jerry Lewis, Dick Van Dyke, and Dean Martin, the telethons wereextremely successful becoming the biggest fundraising event in television history. About $1.7billion have been raised because of the success of the telethons. A star studded event, thetelethons truly embodythe humanitarian spirit in everyone as contributions pour in by themillions. “Year after year, the Telethon reminds America why it is so important to speed MDAworldwide research seeking treatments and cures for progressive muscle diseases. Thecomprehensive health care and support services, advocacy and education that MDA providesfamilies living with neuromuscular diseases is so vital” (MDA Telethon). Aside from thetelethon, the Muscular Dystrophy Association has started a new worldwide campaign known as“Make a Muscle, Make a Difference.” This campaign allows people of all ages to take part inraising money for the cause. The Muscular Dystrophy Association has influenced the youth topartake in more community outreach and to understand the disposition of others. Walk-a-thonsare held all over the nation and are a very successful form of fundraising. Through donations andcorporate sponsors, a lot of money is raised and contributed for the research for the cure. In this day in age, not many people are aware of what muscular dystrophy is. Most peoplewhen asked will know what cancer or what AIDS is, but they have vague knowledge on whatexactly encompasses the muscular dystrophy disease. With more active participation andadamant public awareness of the disease, hopefully funding for research will continue and a curewill be found in the near future. As of present, many big name stars partake in promotions for theannual labor-day telethons or the recent “Make a Muscle, Make a Difference” campaign. With a
  • 6. Torralba 6bright future ahead, muscular dystrophy will soon be a problem of the past. Diagnosed patientswill no longer have to worry about their future with the help of scientists and concernedindividuals alike fighting to find a cure. Together, everyone can make a difference and save thelives of many who have muscular dystrophy.
  • 7. Torralba 7 Works Cited“Basic Facts about Muscular Dystrophy.” Buzzle.com. N.p., n.d. Web. 12 Nov. 2011. <http://www.buzzle.com/articles/basic-facts-about-muscular-dystrophy.html>.Clark, Alisa, ed. “Muscular Dystrophy.” KidsHealth. Nemours, July 2010. Web. 11 Nov. 2011. <http://kidshealth.org/parent/medical/bones/muscular_dystrophy.html#>.“MDA Advocacy.” MDA Muscular Dystrophy Association. N.p., n.d. Web. 12 Nov. 2011. <http://www.mda.org/advocacy/taskforce/>.“MDA Telethon.” MDA Muscular Dystrophy Association . N.p., n.d. Web. 12 Nov. 2011. <http://www.mda.org/telethon/history.html>.“Muscular Dystrophy.” TeensHealth. Nemours, n.d. Web. 21 Oct. 2011. <http://kidshealth.org/ teen/diseases_conditions/bones/muscular_dystrophy.html>.“Muscular Dystrophy Association.” VolunteerMatch. N.p., n.d. Web. 12 Nov. 2011. <http://www.volunteermatch.org/search/org53256.jsp>.“Muscular Dystrophy: Hope Through Research.” National Institute of Neurological Disorders and Stroke. National Institutes of Health, 9 Nov. 2011. Web. 9 Nov. 2011. <http://www.ninds.nih.gov/disorders/md/detail_md.htm>.“Muscular Dystrophy: Inherited myopathy, MD.” PubMed Health. A.D.A.M. Medical Encyclopedia, 9 Mar. 2010. Web. 12 Nov. 2011. <http://www.ncbi.nlm.nih.gov/ pubmedhealth/PMH0002172/>.“Muscular Dystrophy: MD.” MedlinePlus. U.S. National Library of Medicine, n.d. Web. 20 Oct. 2011. <http://www.nlm.nih.gov/medlineplus/musculardystrophy.html>.
  • 8. Torralba 8“Muscular dystrophy: Treatment and drugs.” Mayo Clinic. Mayo Clinic staff, 8 Dec. 2009. Web. 12 Nov. 2011. <http://www.mayoclinic.com/health/muscular-dystrophy/DS00200/ DSECTION=treatments-and-drugs>.“NINDS Muscular Dystrophy Information Page.” National Institute of Neurological Disorders and Stroke. N.p., 9 Nov. 2011. Web. 12 Nov. 2011. <http://www.ninds.nih.gov/disorders/ md/md.htm>.