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Essay On Duchenne Muscular Dystrophy

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Duchenne muscular dystrophy, classified as a genetic disorder, is marked by progressive muscle degeneration and weakness. It is only one of the nine forms of muscular dystrophy; however, around half of the people diagnosed with muscular dystrophy have Duchenne muscular dystrophy.
Each strain of muscular dystrophy is created by a genetic mutation distinct to that type. Duchenne’s has an absence of dystrophin, a protein that aids in keeping muscle cells together. Most of the mutations in the genes are inherited; some happen randomly in the mother’s egg (oocyte) or the developing embryo. Also, the mutations are able to be passed to the next generations.
DMD is the biggest (known) gene in the human body. It contains the directions to make the protein dystrophin. Dystrophin is found mostly in skeletal muscles and heart muscles. Modest amounts are present in the brain, in nerve cells also. Dystrophin joins other proteins to form a protein complex, that toil to strengthen muscle fibers and safeguard them from harm. Dystrophin complexes act as anchors (desmosomes), to
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Enzyme tests scan for high levels of CK (creatine kinase), that would point to a muscle disease. Enzymes such as CK are typically released by damaged muscles into the bloodstream. Electromyography measures the electrical activity in your muscles as they tighten and relax with an electrode needle; variations in the pattern of electrical activity can affirm a muscle disease. Because Duchenne is a genetic disease, genetic testing is sometimes used; blood samples will be inspected for mutations in some of the genes that can cause different types of muscular dystrophy, DMD in this case. Next, a little piece of muscle may be removed during a muscle biopsy through an incision or hollow needle. The biopsy is able to distinguish muscular dystrophies from other muscle diseases. Lung monitoring and heart monitoring tests may also be
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