A review of Duchenne muscular dystrophy focusing on cardiac involvement
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Duchenne muscular dystrophy (DMD) is a lethal x-linked recessive disorder, characterised by progressive skeletal muscle weakness, accompanied by cardiac and smooth muscle dysfunction. Although the main cause of death in DMD used to be respiratory problems caused by deterioration of the diaphragm, developments in respiratory care means that cardiac failure is now the major cause of death, despite the introduction of cardio-protective treatment such as angiotensin-converting-enzyme inhibitors and beta-blockers. Once affected, the heart progressively deteriorates over time, with the main problem being due to the death of cardiomyocytes. A loss of dystrophin makes the sarcolemma more susceptible to damage, leading to an influx of calcium ions into the cell, activating proteases and ultimately resulting in cardiomyocyte death. The dead cells are replaced by fibrotic tissue which causes dilated cardiomyopathy. There is at present no cure for DMD, however there is much on-going research producing positive results based around the pathophysiology in DMD patients.
Wright, S. (2014) 'A review of Duchenne muscular dystrophy focusing on cardiac involvement', The Plymouth Student Scientist, 7(1), p. 201-215.