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.
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...ssociation. Retrieved October 24, 2013, from http://mda.org/
Narayanan, T., & Subramaniam, S. (2013). Community Structure Analysis of Gene Interaction Networks in Muscular Dystrophy. Plos ONE, 8(6), 1-11. doi:10.1371/journal.pone.0067237
Söderpalm, A., Magnusson, P., Åhlander, A., Karlsson, J., Kroksmark, A., Tulinius, M., & Swolin-Eide, D. (2012). Bone mass development in patients with and Becker muscular dystrophies: a 4-year clinical follow-up. Acta Paediatrica, 101(4), 424-432. doi:10.1111/j.1651-2227.2011.02532.x
Staff, M. (2012, January 18). Definition. Mayo Clinic. Retrieved October 24, 2013, from http://www.mayoclinic.com/health/muscular-dystrophy/DS00200
Spureny, MD, C. F. (2011). Cardiomyopathy of muscular dystrophy: Current understanding and future directions. Retrieved November 11, 2013 from http://www.distrofiamuscular.net/cor_.pdf