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Duchenne Muscular Dystrophy

Pathophysiology:
a. Genetic mutation affecting dystrophin production
b. Progressive muscle degeneration
c. Abnormal muscle fiber structure
d. Autoimmune response against muscle tissue

1 Answer

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Final answer:

Duchenne Muscular Dystrophy (DMD) is a genetic disorder due to a dystrophin deficiency, leading to muscle fiber damage and progressive muscle degeneration without an autoimmune component. The lack of this crucial protein results in muscle weakness and death of muscle tissue, with utrophin upregulation being a current area of research for treatment.

Step-by-step explanation:

Duchenne Muscular Dystrophy (DMD) is a genetic neuromuscular disorder primarily affecting males, due to a mutation on the X chromosome. This condition is characterized by a lack of the protein dystrophin, which is crucial for the structural integrity of muscle cells. The absence of dystrophin results in muscle fibers that cannot withstand the stress of contraction, eventually leading to their damage and subsequent progressive muscle degeneration. Over time, individuals with DMD experience increased muscular weakness, and the death of muscle cells and tissues further exacerbates the condition.The traditional understanding is that there is no autoimmune response against muscle tissue in DMD. Instead, the fundamental problem lies in the structural anomaly caused by the dystrophin deficit. As muscle fibers break down, this leads to an influx of calcium ions (Ca++), inducing cellular damage. Consequently, affected muscles exhibit an abnormal muscle fiber structure.When considering treatment options, earlier strategies involved attempting to transplant healthy myoblasts, with the hopes that they would produce the required dystrophin. However, this approach has shown limited success. Current research is exploring ways to enhance the production of utrophin, a protein similar to dystrophin, which might compensate for its absence and mitigate muscle fiber damage.