Muscular Dystrophy, Affects And Diagnosis

Muscular Dystrophy, Affects and Diagnosis Muscular dystrophy or MD is a broad medical term used to refer to a number of muscle diseases that weaken the musculoskeletal system and hampers movement according to Yeole, Gurunani, Dhole and Yogesh (2014). Emery (2002) states these disorders produce muscle wasting and weakness of variable distribution and severity. Muscular dystrophies are caused by genetic mutations that have a progressive degenerative effect on an individual’s muscles stated Punnoose, Burke and Golub (2011). The muscles most often affected include limbs, facial muscles, respiratory muscles, cardiac muscles and swallowing muscles. In less frequent cases a MD disorders may have an effect on the brain, inner ear, eyes or skin. The
However, genetic mutations and nutritional defects during the prenatal stage are also a possible cause in a small percentage of those effected. The predominate cause of both of the most common dystrophy diseases is the muscle tissue being unable to properly create the protein dystrophin and associated protein complexes (Yeole, et al. 2014). Dystrophin is a protein found in the membrane of muscle fibers, and acts as a spring or shock absorber. This protein links actin and dystroglycans of the muscle cell plasma membrane together. Aside from the mechanical and structural stabilization dystrophin provides it also regulates calcium levels (Yeole, et al. 2014). The Emery-Dreifuss muscular dystrophy is characterized by three distinct stages of the disease. First there are early muscle contractions of tendons, cervical muscles, limited neck flexion and elbow movement. Next slow muscle wasting and weakness in the upper and lower limbs occurs followed by cardiomyopathy. Emery-Dreifuss muscular dystrophy is caused by mutations of the STA gene at Xq28, which encodes the nuclear membrane protein emerin. In almost all cases of this dystrophy, there is complete absence of emerin in muscle (Emery
In the case of those with Duchenne dystrophy the concern has centered on management. There is no cure for any of the dystrophies medications and therapy may slow the course of the disease. Physical therapy involving aerobic exercise along with doses of anabolic steroids and prenisone supplements can help prevent contratures and help maintain muscle tone can help delay the effects of some of the diseases. Myotonic muscular dystrophy can be treated with medications like quinine, mexiletine or phenytoin but no effective long term treatment has yet been found. A patient’s quality of life can be greatly increased through occupational therapy in which they engage in the activities of daily life at the most independent level possible (Yeole, et al.