30s or 40s


HISTORY. A complete family and developmental history provides important diagnostic data for the patient with muscular dystrophy. Since 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 muscular dystrophy 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 EXAMINATION. 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 muscular dystrophy, 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 hands 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 muscular dystrophy is a progressive disease that limits the normal life span, patients and their families will require ongoing emotional support. The genetic nature

Diagnostic Highlights


Normal Result

Abnormality with Condition


Muscle biopsy

Electromyogram (EMG)

Normal muscle fibers

No electrical activity at rest; orderly recruitment of voluntary motor unit potentials with gradually increasing voluntary motor muscle effort

Muscle cell degeneration with microscopic areas of necrosis and presence of dystrophin

Progressive muscle weakness

Increased activity of proteo-lytic enzymes in muscle tissue

Destruction and deterioration of muscle function

Other Tests: Creatine phosphokinase

of the disease frequently creates guilt that often leads to depression cular dystrophy often have an IQ below 90. Frustration, depression immaturity may be present because of the intellectual limitation lenged because of the progressive losses and prognosis.

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