Muscular Dystrophy Guillaume Benjamin Amand

Muscular Dystrophy

Guillaume Benjamin Amand Duchenne (1806-1875), a French neuroscientist, is credited with the official description of Muscular Dystrophy in the late 1860s. Duchenne's interest in electrophysiology and the development of techniques in neuromuscular stimulation led him to research and eventually learn to diagnose cases of what would eventually become the disease referred to as Duchenne Muscular Dystrophy (Enerson).

Muscular Dystrophy is not just one disease; it is a group of about thirty different diseases. So far, all forms of Muscular Dystrophy are genetic and "characterized by progressive weakness and degeneration of the skeletal muscles that control movement" (NINDS). The most common form of the disease is called Duchenne Muscular Dystrophy, and because it is an X-linked genetic disorder, symptoms rarely occur in girls. It is because of this X-linked characteristic that allows women to be carriers of the disease but rarely affected themselves, however, since males receive one X chromosome from their mother (and the Y from their father), there is a 50% chance that a male baby born to a carrier mother will develop Muscular Dystrophy. A female child will have the same chances of becoming a carrier herself. Duchenne Muscular Dystrophy is the form of the disease that has the earliest onset, which is in early childhood, usually before the age of 5 (NNDS).

Diagnosis of Muscular Dystrophy can begin at the prenatal stage by testing a pregnant woman that is either known to be a carrier of the disease, or has a family history of the disease. Usually a blood test to determine the levels of creatine phosphokinase (CPK), which is an enzyme, is initially performed. If the levels of CPK are substantially elevated, a neurologic exam is performed to determine if there are any symptoms of Muscular Dystrophy such as a lack of balance or coordination. If there are symptoms present an electromyograph or EMG is performed, which examines the muscle and nerve tissues for any damage or irregularities. Finally, a muscle biopsy will confirm a diagnosis of Muscular Dystrophy (Emery 18).

Sadly, there is no cure for Muscular Dystrophy. Because of the current absence of a cure, treatment is mostly aimed at controlling the symptoms and maintaining the quality of life of the individual suffering from the disease. Physical activity is key in slowing the progressive nature of the disease since inactivity will encourage quicker deterioration of the muscle tissue. Beyond the individual maintaining an effort of physical activity, various treatments, such as physical therapy, speech therapy, respiratory therapy, and the use of wheelchairs, canes, walkers, or braces may be needed. Orthopedic surgery to correct damage done to the bones due to the deterioration of the muscle tissue can be performed, though it is usually a temporary improvement. Also, there are drug therapies that include the use of corticosteroids that help control the deterioration of the muscles as well. Of course, there are also drugs to treat the symptoms of later stages of the disease such as seizures and muscle spasms as well as to treat any respiratory infections that often occur due to the collection of fluid in the lungs. Pacemakers and ventilators are sometimes necessary to help with weakened lung and heart muscles as well (Emery 49).