Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is a genetic disease characterized by the progressive weakness and degeneration of muscles. Duchenne MD is caused by mutations in the dystrophin gene, a gene on the x chromosome. Duchenne MD is the most common form of MD and mainly affects boys. It is caused by the deficiency of dystrophin, a protein involved in maintaining the strength of muscle. DMD occurs because the mutated gene fails to produce any useful dystrophin. Symptoms of MD are the result of a atrophy of the bodys muscles due to the death of muscle cells and tissues. DMD progressively gets more severe over time and can lead to the loss of movement. Muscle weakness can begin as early as age 3, first affecting the hip muscles, pelvic area, thighs, and shoulders, and later the skeletal muscles in the arms, legs and back. Children with Duchenne muscular dystrophy are often late walkers and appear clumsy. Lack of dystrophin can weaken the muscle layer in the heart resulting in cardiomyopathy. Over time, sometimes as early as the adolescent years, the damage done by DMD to the heart can become lifethreatening. In diagnosing muscular dystrophy, a doctor usually begins by recording patient and family history and performing a physical examination. Genetic testing may also be performed and involves analyzing the DNA of any cells to see whether there is a mutation in the dystrophin gene. Braces are used to promote better movement, and can range from a small ankle brace to a wheelchair. Usually, a wheelchair is needed by age 12. Physical therapy is used to promote flexibility and enhance muscle, as well as prevent contractures, which are fixations on the joints that can cause pain and immobility. For severe contractures, surgery may be needed. Swimming and water exercises are recommended as a good way to keep muscles as toned as possible without causing excess stress on them. Because DMD can also lead to constipation, a person diagnosed with DMD should eat a diet high in fiber, fluid, fruits, and vegetables. Medications in the corticosteroids group have been found effective in slowing the course of DMD. People diagnosed with DMD usually did not survive much beyond their teens until recent years. Thanks to advances in cardiac and respiratory technology, life expectancy is increasing and many young adults with DMD attend college, have careers and get married. Survival into the early 30s is becoming more common and there are cases of people with DMD living into their 50s.

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