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Muscle wasting (atrophy) begins in the legs and pelvis, then progresses to the muscles of the shoulders and neck, followed by loss of arm muscles and respiratory muscles. Calf muscle enlargement (pseudohypertrophy) is quite obvious.
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Cardiomyopathy is commonly present, but signs of congestive heart failure or arrhythmias (irregular heartbeats) are rare. Respiratory disorders are common during the later stages, including pneumonia and aspiration of food or fluid into the lungs.
- A serum CPK is highly elevated.
- A neurologic exam demonstrates weaness and lack of coordination or balance.
- An EMG (electromyography) shows that weakness is caused by destruction of muscle tissue rather than nerve damage.
- A muscle biopsy confirms the diagnosis.
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