Duchenne Muscular Dystrophy Research Paper

Duchenne muscular dystrophy (DMD ) is a muscle disease that includes muscle weakness and can be inherited and can gradually worsen over time. It’s caused by a defective gene and it affects more boys than girls, but the girls can be carriers for the disease. Many young infant males are affected by this disease, and, as time passes, they start to develop symptoms (University of Maryland Medical Center (UMMC), 2014). DMD is a muscular disease that is inherited and causes muscle weakness .
What is Duchenne Muscular Dystrophy?
A type of muscular dystrophy that is similar to another muscular dystrophy , called Becker’s muscular dystrophy, is called Duchenne muscular dystrophy and it worsens more quickly than any other muscular dystrophies, while …show more content…
Their legs are affected first, causing difficulty in maintain balance and walking. Children with DMD are often late at walking. Children may start to walk three to six months later, but then they will have difficulty running. Later, the child will push his hands against his knees to allow him to stand up. The child’s parents may notice that their child’s calf muscles are enlarged. The enlargement of the calf muscles is known as pseudohypertrophy, or false enlargement (Signs and Symptoms Duchenne Muscular Dystrophy, 2014). According to Muscular Dystrophy (2011), “a boy with DMD will widen his stance to maintain balance, and walk with a waddling gait to advance his weakened legs” (par.31). Permanent muscle tightening, which occurs severely in the calf muscles, usually begins at ages five or six. It makes the child walk on their tip-toes, and it also decreases their balance more. To a child at the age of nine or ten, climbing stairs and rising unaided becomes impossible. Most boys by the age of twelve use a wheel chair for mobility. Muscular Dystrophy (2011) states, “weakening of the trunk muscles around age twelve, often leads to scoliosis (a side-to-side spine curvature) and kyphosis (a front-to-back curvature)”. The most serious weakness of DMD is in the diaphragm. The diaphragm weakness leads to reduced energy and stamina and lung infection because of the inability to cough effectively (Muscular Dystrophy, …show more content…
Exon skipping was tested on mice with DMD to make sure it works. A Promising New Treatment of DMD (2014) states, “the findings that show exon skipping can work in mice with rapid progressive DMD and support to the already substantial interest shown by biotechnology and pharmaceutical companies on developing this type of compound for treatment of children and young adults with DMD” (par. 4). Exons are the regions of genes that carry instructions for proteins such as dystrophin. When a gene mutation results on missing pieces of exon, the protein that is made can be unstable or unfunctional. According to A Promising New Development for Treatment of DMD, “Exon skipping changes the way messenger RNA instructions are read so that only error-free exons go into the final protein “recipe” (par. 6). The goal of this is to produce a functional

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