HISTORY. A complete family and developmental history provides important diagnostic data for the patient with MD. Because it is a genetic disease, determine if anyone in the family has been previously diagnosed with a musculoskeletal or neuromuscular disease. Children with Duchenne's MD have a history of delayed motor milestones, such as sitting, walking, and standing. Adults may report progressive muscle weakness of the legs, face, and shoulder. The patient may experience difficulty raising the arms over the head or closing the eyes completely. Other early signs include difficulty in puckering the lips, abnormal facial movements, and the inability of facial muscles to change during laughing and crying.

PHYSICAL EXAM. Most dystrophies involve the hip and shoulder girdle musculature, which leads to functional difficulties. Assess the patient's ability to raise the arms above the head, get up from a chair, or walk. Inspect the patient for scoliosis and contractures. For 2- to 5-year-old boys with Duchenne's MD, observe for pelvic and shoulder girdle muscles with distal involvement. Note a waddling, stumbling gait or difficulty climbing stairs. A characteristic sign is the Gower's maneuver: the patient uses his or her hands to walk up the legs until he or she is standing erect. His or her postures may also be distorted, with a lumbar lordosis and protuberant abdomen. He or she may toe-walk to compensate for quadriceps weakness. Scoliosis occurs after the child is wheelchair-dependent because of weak trunk muscles. Tachycardia occurs as the heart muscle weakens and enlarges. Generally, any cardiac muscle involvement is asymptomatic until late in the course of the disease. Pneumonia develops easily as the child's cough reflex becomes weak and ineffective.

PSYCHOSOCIAL. Since MD is a progressive disease that limits the normal life span, patients and their families will require ongoing emotional support. The genetic nature of the disease frequently creates guilt that often leads to depression. Boys with Duchenne's MD often have an IQ below 90. Frustration, depression, and other signs of emotional immaturity may be present because of the intellectual limitation. Family functioning is challenged because of the progressive losses and prognosis.

Diagnostic Highlights