Physiological Effect Of Duchenne Muscular Dystrophy

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Introduction Duchenne muscular dystrophy, or DMD, is the most common and severe type of muscular dystrophy, caused by a genetic disorder that leads to progressive muscle weakness and degradation (Marieb & Hoehn, 2015). DMD is a recessive sex-linked disease and is often inherited through the mother. Because this condition is enacted by a mutation of the X chromosome, it is expressed almost exclusively in males, with one in every 3,600 males affected worldwide (Marieb & Hoehn, 2015). The DNA mutation leads to the absence of the protein dystrophin, which helps stabilize muscles and allows them to remain intact (Marie & Hoehn, 2015). Without its presence, the muscles of those with DMD are unable to function properly, leading to their gradual declination. …show more content…
Physiological effects that arise from this condition include the degradation of muscle tissue, causing muscles to progressively weaken. This effect can be seen through various symptoms, beginning with frequent falls, trouble walking or getting up, learning disabilities, enlarged calves, gluteus, or shoulder muscles, and muscle weakness that begins in the legs and pelvic region in early stages (“Diseases and Conditions”, 2014). Eventually, the disease will spread to upward extremities, such as the arms, head, and chest, which then leads to breathing problems and possible heart failure (“Diseases and Conditions”, 2014). In order to treat these physiological effects, physical therapies are mainly used to help patients remain mobile as long as possible and to reduce any skeletal and joint deformities that form from the muscle’s weakening. Such treatments include the use of braces, walkers, or wheelchairs and also physical therapy exercises; surgery also stands as an option to help correct any resulting deformities (Haldeman-Englert, 2014). The steroid prednisone can also be prescribed to those with DMD in order to delay weakening and help improve muscle strength (Do & Thomson, 2015). However, there are possible side effects that may arise with the use of prednisone, such as a decrease in the immune system’s ability to fight off infections, increase the risk of getting …show more content…
Researchers are currently working on finding ways to replace the missing structural protein, dystrophin (Do & Thomson, 2015). They do so by experimenting with gene therapy, or the insertion of new dystrophin genes either through the action of viruses or muscle specific promotors (Do & Thomson, 2015). Scientists have also tried to use exon skipping so that portions of the genetic code are “skipped” and partially functional dystrophin can result (“Duchenne Muscular Dystrophy”, 2016). Other research studies include driving muscle growth through myostatin inhibitors because myostatin is a protein that limits muscle growth, accelerating muscle repair through stem cell transplantation, compensate the lack of dystrophin with another protein named utrophin, the exploration in anti-inflammatory therapies such as corticosteroids, maximizing blood flow to muscle tissue, and prolonging the development of cardiomyopathy (“Duchenne Muscular Dystrophy”, 2016). Moreover, with the research and an increase in the availability of physical, respiratory, and cardiac treatments, patients with DMD are able to live longer than ever before. The average life expectancy of someone with DMD is currently only 27 years old, but survival into the late 30’s and early 40’s has become more common thanks to treatment advancements (“Duchenne Muscular

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