Muscular Dystrophy

Muscular Dystrophy

There are numerous genetic disorders known to man and probably many more yet to have been discovered. This paper shall focus on one specific genetic disorder, to be more precise, on one type of a genetic disorder – Duchenne Muscular Dystrophy. We will begin with the background, followed by the genetics, symptoms, treatments, and any current research. Before we get to the background, we will first focus on the general genetic disorder, muscular dystrophy.

What muscular dystrophy does is that it gradually weakens the voluntary muscles in the body (3). There are nine types of muscular dystrophy – Becker, Congenital, Duchenne, Distal, Emery-Dreifuss, Facioscapulohumeral, Limb-Girdle, Myotonic, and Oculopharyngeal. Duchenne Muscular Dystrophy (DMD) is the most common of the nine, followed by Becker. As a side note, Becker is very similar to DMD; they only differ in the severity, age of onset, and rate of progression. The first signs of DMD usually occur when the victim is an infant. DMD is most common in young boys and affect 1 out of every 3,500-5,000 boys; however, in very rare cases it does affect girls (2). DMD occurs when there is a lack of dystrophin, a protein that helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells to help keep muscles intact (2). DMD affects all of the voluntary muscles in the body, including the heart and lung muscles. Patients with DMD usually do not live past their early 30’s (3).

The DMD disease is properly named after its discoverer Guillaume Benjamn Amand Duchenne (1806-1875), a pioneering 19th century French neurologist (4). In 1868, he was the first to extensively research and describe the destructive and progressive neuromuscular disorder known today as DMD (3). Duchenne specialized in the study of muscles and how they worked and was a very diligent clinical investigator, meticulously recording his patients’ history. He constantly followed his patients...