Duchenne Muscular Dystrophy Essay

1832 words - 8 pages

Kayla Barr
API
Mrs. Geralyn Caplan
Pathology
3 November 2014
Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a common disorder affecting the muscular system. This form of muscular dystrophy is inherited and is caused by a genetic mutation that affects the dystrophin proteins of the muscles. Dystrophin is the largest gene known to man. (Tennyson, Klamut, Warton 1995). Hundreds of genes are responsible for producing the proteins that protect these muscle fibers from damage. In DMD, the dystrophin gene is defective. Where most forms of muscular dystrophy worsen slowly over time, Duchenne grows worse quite rapidly. Duchenne muscular is linked to the X-chromosome so the ...view middle of the document...

Children with muscular dystrophies are very delayed in this developmental milestone. Muscle weakness first develops in the lower limbs and pelvic girdle but the upper limbs and the thoracic region can also be affected. The weakening of the muscles essentially leads to poor motor skills, difficulty doing some necessary activities such as climbing stairs and getting out of bed, and frequent falls. This strength degeneration occurs quickly and by the age of thirteen, most patients will no longer be able to get around on their own (Bushby, et al. 2010). Corticosteroids can be used to slow this degenerative process down some but it is inevitable. There are several tests that can be performed to help diagnose someone with Duchenne muscular dystrophy. One is called an enzyme test. When the muscles are damaged, they release enzymes into the bloodstream so high enzyme levels in the blood are a sign of a muscular disease. Also, an electromyography can determine how functional a muscle is. An electrode is inserted into the muscle and then the electrical activity of the muscle is measured as the patient relaxes and slowly contracts the muscle. Changes in the pattern of activity can indicate a muscular disorder. A muscle biopsy could also be done. A very small piece of a muscle is extracted and then analyzed for signs of abnormality. Genetic testing is another possible way to identify Duchenne muscular dystrophy. It can be done before or after birth. Blood samples can be taken from both parents to determine any possible genetic disorders that can arise once the child is born. Otherwise, blood samples from the infant can be tested.
Many studies on treatment for Duchenne muscular dystrophy have been implemented on animal models and have showed promising results. The same studies have taken place on human patients and is slowly leading to a definite treatment. However, right now it is classified as an incurable disease. Though this condition is eventually fatal, patients can still live a somewhat normal life. They can still go to school and eventually get a job with the right treatment regimen. With the corticosteroids, rehabilitation, orthopedic and cardiorespiratory therapies, most patients are able to live out their lives the way they want. Glucocorticoids are the only type of medication available at this time that is known to slow down the degeneration of muscle strength and function. Children diagnosed around the age of six years are expected to live into their mid to late thirties (Bushby, et al. 2010). The average lifespan of a patient diagnosed with Duchenne muscular dystrophy has improved greatly since the 1960s. In 1967, the life expectancy of a person diagnosed with Duchenne muscular dystrophy was on average fourteen years old. (Eagle, Baudouion, Chandler, Giddings, Bullock, Bushby 2002).
Proper treatment, however, forces medical professionals to not only treat the primary symptoms but also the underlying secondary symptoms as well. Managing...

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