Duchenne Mascular Dystrophy Essay

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• Duchenne Mascular Dystrophy (DMD):
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
Dystrophin is part of a complex structure involving several other protein components. The "dystrophin-glycoprotein complex" helps to anchor the structural skeleton (cytoskeleton) within the muscle cells, through the outer membrane (sarcolemma) of each cell, to the tissue framework (extracellular matrix) that surrounds each cell (Straube and Campbell, 1997). Due to defects in this assembly, contraction of the muscle leads to disruption of the outer membrane of the muscle cells and eventual weakening and wasting of the muscle
Symptoms: Up to the age of 1-3 years, affected boys have normal muscles that is they learn to stand and walk later than they are supposed to do and speech may be slow in development. Gowers sign is a sign that can be seen in boys. Hypertrophy of the calf muscles is also a characteristic sign of DMD (Alan E H Emery., 1998). Contractures at the knees and elbows are common and it will lead most boys to use wheelchairs by the age of 10, and end them dead before or at the age of 20. The commonest cause of death is cardiac muscles involvement that will lead to cardiac faliure and subsequentl to respiratory failure (Pryse-Phillips, William E. M. and Murray, T. J., “ A concise textbook Essential Neurology”. 4th ...

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... are trying to "skipping" additional exons in the dystrophin gene.
Stem cell research: Stem cells are cells that are at an early stage of development. This means they have the ability to turn into any type of cell in the body. Some research is currently focusing on whether stem cells can be turned into muscle cells and used to regenerate damaged muscle tissue (American Thoracic Society Consensus Statement, 2004).
CONCLUSION
Muscular Dystrophy is a diverse group of disease which involves the weakness and wasting of muscles and leads to many other problems in physiological system. It is because of mutation in gene related to contraction and relaxation of muscles. Although recently no perfect treatment option is available for it but in nearby future cure of this disease will be available due to advanced technology and methods like gene therapy and stem cell technology.

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