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Nicole Torralba
Ms. Tillery
AP Literature
17 November 2011
Muscular Dystrophy
In a society where people are judged, being different makes it difficult to live a normal
life. Unfortunately, this is what individuals diagnosed with muscular dystrophy have to
overcome 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 inspiring
population and their strength speaks volumes about their character. A crippling disease, muscular
dystrophy is disastrous to the population it affects, but hope exists as organizations fund the
research 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 a
group 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 muscles
as fat builds up in the tissues. This renders individuals to lose their capability to walk or even sit
up straight. This disease is not contagious by any means as it is a genetic disorder and people are
born with it (Muscular Dystrophy). The disease may appear at an early age starting from infancy
or it may be delayed until adulthood or even later. The different types of muscular dystrophy all
differ in the stages of progression and the age to which it most likely appears depending on the
individual diagnosed.

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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 in
boys” (Muscular Dystrophy: Hope Through Research). A similar case was reported shortly after
of two boys that possessed the same qualities reported by Sir Charles Bell in his essay. It was
thought to be tuberculosis at the time, but one sharp contrast that separated the two diseases was
that muscular dystrophy caused the boys to grow so weak that they could no longer walk. In the
1860s, the mysterious disease was finally diagnosed by French neurologist Guillame Duchenne.
The most common form of the disease, Duchenne muscular dystrophy affects only young boys
between the ages of 2 to 6 (Basic Facts about Muscular Dystrophy). In most cases, children with
the disease do not live past their teenage years.
Specifically, muscular dystrophy is caused by genetic mutations. One mutation amongst
thousands of other genes can cause someone to have the disease as the gene for muscular
dystrophy is coded during DNA synthesis. There are three different ways of inheriting muscular
dystrophy. “One way is through autosomal dominant inheritance wherein one parent carries a
normal gene while the other parent has a defective gene” (Muscular Dystrophy: Hope Through
Research). The second way is through autosomal recessive inheritance where both parents
possess the mutated gene. The third way is through sex-linked recessive inheritance where one of
the mother’s X chromosomes contains the gene for muscular dystrophy. Sadly, “Duchenne
muscular dystrophy being the most common and most severe form of the disease affects about 1
out of every 3,500 boys” (Clark). These individuals develop heart problems early on in life and
must be watched closely and be put on ventilation systems to help them breathe.
Unfortunately, diagnosis of muscular dystrophy is sometimes not obvious. Children can
be born healthy and not exhibit signs of the disease until later on in life. Blood tests are usually

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the most accurate way of diagnosing muscular dystrophy. “A blood test such as determination of
serum creatine kinase (CK) is useful to diagnose MD, because this enzyme is released by the
damaged 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 start
losing their balance, develop scoliosis, or possess some mental deterioration. Daily activities
start to become too tiring as their muscles are too weak to perform any sort of demanding
activity. There comes a point in which they can no longer sit up and are constrained to
wheelchairs for the rest of the life they have left.
As of right now, “there is no cure for muscular dystrophy, but medications and therapy
can slow the course of the disease” (Muscular dystrophy: Treatment and drugs). Research is
currently 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 delving
into 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 program
of research studies on MD. The goals of these studies are to understand MD and to develop
techniques to diagnose, treat, prevent, and ultimately cure the disorder. The NINDS is a member
of the Muscular Dystrophy Coordinating Committee (MDCC)” (NINDS Muscular Dystrophy
Information Page). Although there is no cure, there are treatments available that help ease the
symptoms of muscular dystrophy. Constant physical activity is highly advised to keep the
muscles healthy and strong. Being inactive will cause the disease to worsen. “Physical therapy
may help patients maintain muscle strength and function. Orthopedic appliances such as braces
and wheelchairs can improve mobility and self-care abilities. In some cases, surgery on the spine

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or legs may help improve function. Corticosteroids taken by mouth are sometimes prescribed to
children to keep them walking for as long as possible” (Muscular Dystrophy: Inherited
myopathy, MD). Individuals with muscular dystrophy have to maintain a healthy balance of
constant exercise to stretch their muscles so they have the ability to keep walking as long as
possible 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 those
struggling with the disease. “The Muscular Dystrophy Association's mission is to foster and
promote the alleviation of the conditions of persons with muscular dystrophy and related
neuromuscular disorders through support of basic and applied research seeking the causes of and
effective treatments for these diseases” (Muscular Dystrophy Association). This association is
comprised of scientists and day-to-day people who are concerned with those affected with
neuromuscular diseases. Their goal is to find a cure for the disease that is currently affecting
millions of Americans. The Muscular Dystrophy Association was founded during the 1940s by
Paul Cohen, a businessman who also had muscular dystrophy. Ever since MDA began, leaders
and officers of the organization have beenindividuals diagnosed with muscular dystrophy.
“Under their guidance, MDA has educated the public about living with disabilities, and
supported efforts to ensure people with disabilities enjoy equal rights and opportunities” (MDA
Advocacy). These individuals spread awareness of muscular dystrophy and are the voice of the
association. They represent the millions of people that are affected by the disease and speak for
the 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

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biggest fundraisers for the association. “Early to recognize the power of television to bolster
awareness and raise income for the Association, Cohen’s top fundraising priority was the
pioneering 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 were
extremely successful becoming the biggest fundraising event in television history. About $1.7
billion have been raised because of the success of the telethons. A star studded event, the
telethons truly embodythe humanitarian spirit in everyone as contributions pour in by the
millions. “Year after year, the Telethon reminds America why it is so important to speed MDA
worldwide research seeking treatments and cures for progressive muscle diseases. The
comprehensive health care and support services, advocacy and education that MDA provides
families living with neuromuscular diseases is so vital” (MDA Telethon). Aside from the
telethon, 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 in
raising money for the cause. The Muscular Dystrophy Association has influenced the youth to
partake in more community outreach and to understand the disposition of others. Walk-a-thons
are held all over the nation and are a very successful form of fundraising. Through donations and
corporate 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 people
when asked will know what cancer or what AIDS is, but they have vague knowledge on what
exactly encompasses the muscular dystrophy disease. With more active participation and
adamant public awareness of the disease, hopefully funding for research will continue and a cure
will be found in the near future. As of present, many big name stars partake in promotions for the
annual labor-day telethons or the recent “Make a Muscle, Make a Difference” campaign. With a

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bright future ahead, muscular dystrophy will soon be a problem of the past. Diagnosed patients
will no longer have to worry about their future with the help of scientists and concerned
individuals alike fighting to find a cure. Together, everyone can make a difference and save the
lives of many who have muscular dystrophy.

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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>.

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“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>.