Duchenne MD

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Duchenne MD

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MD is a progressive degeneration and weakening of the skeletal muscles in which muscle fibers are abnormally vulnerable to injury. There are several types of the disease, but all are rare. The most common and best-known type is Duchenne MD, which is diagnosed soon after birth or during early childhood, usually before the age of 5 years. MD initially affects the muscles of the shoulders, hips, thighs, and calves of the legs, causing the characteristic waddling gait and toe walking. Affected muscles sometimes look larger than normal because fat replaces atrophied muscle. The child also may have lordosis or other spinal deformities. In addition, the child has difficulty climbing stairs and running, tends to fall easily, and has difficulty getting up. As the disease progresses, it involves all the muscles, causing crippling and immobility (see Figure 2-13). Contractures typically develop, and the child becomes increasingly susceptible to serious pulmonary infections such as pneumonia. Also, children with Duchenne MD often are impaired mentally.