Muscular Dystrophy Effects On The Skeletal And Cardiovascular System Understanding Muscular Dystrophy

1355 words - 5 pages

Muscular dystrophy (DMD) is a widespread genetic disease that affects approximately 1 in 3000 males (MDA | Muscular Dystrophy Association, n.d.). This disease results from a mutation in the gene dystrophin, a sarcolemmal protein rich in skeletal and cardiac muscle cells. Dystrophin is naturally absent in DMD.
DMD usually is diagnosed amid the age of 3 and 7 years of age. It is noted by progressive skeletal muscle weakness with loss of mobility between the ages of 7 and 13 years of age according to MDA | Muscular Dystrophy Association, n.d. Loss of life is secondary to cardiac or respiratory failure and usually occurs between the ages of twenty to thirty with DMD. Cardiac disease in DMD manifests as a cardiomyopathy and/or cardiac arrhythmia. Cardiac disease is distinguished by alternating areas of myocyte hypertrophy, atrophy, and fibrosis.
Cardiomyopathy course of development has not been well established yet; none the less, clinical studies show that the disease’s development in the heart is in progress long before symptoms appear. Manifestations of early heart failure often go unnoticed and are secondary to classic signs and lack of muscular inactivity. Most signs of cardiac dysfunction may be hard to recognize and very general, for example symptoms can consist of weight loss, fatigue, vomiting, or sleep issues. For management of musculoskeletal complications in DMD, frequently recommended is an orthopedic surgical procedure. However, patients with DMD uniquely risk not only in the operating room but also in the post operation. Complications are not limited to respiratory failure, pulmonary aspiration, and postoperative pneumonia, collapse of major lung segments, congestive heart failure and possible cardiac arrhythmias.
Dystrophin mutation clearly place affected persons at risk of increased chances of cardiac disease irrespective of skeletal muscle disease Au, C. G., Butler, T. L., Sherwood, M. C., Egan, J. R., North, K. N., & Winlaw, D. S., 2011). The dystrophin gene has been shown to be the cause of some cases of sporadic dilated cardiomyopathy and dilated cardiomyopathy.
Scientific overview Muscular Dystrophy
As stated in an article by Gehrig, S. M., van der Poel, C., Sayer, T. A., Schertzer, J. D., Henstridge, D. C., Church, J. E., & Lynch, G. S. in 2012, the genetic makeup of Duchene Muscular Dystrophy is the absence of the protein dystrophin. It has a 96% with frameshift mutation, 30% with new mutation, and 10% to 20% of new mutations are gonadal mosaic. This desease usual has takes place between 3 and 5 years. Clinical research has show the common effects to be weakness in the muscle. The location of onset is usually proximal distal of the legs and arms. The most involve muscles are in the legs which is the adductor magnus. The muscles that are usually spared are the Sartorius and the Gracilis.
Course of the disease reduces motor function by two to three years and there is a steady decline in strength after six to eleven years...

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