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Diagnosis depends on typical clinical findings, family history, and diagnostic test findings. If another family member has muscular dystrophy, its clinical characteristics can indicate the type of dystrophy the patient has and how he may be affected.
Electromyography typically demonstrates short, weak bursts of electrical activity or high-frequency, repetitive waxing and waning discharges in affected muscles. Muscle biopsy shows variations in the size of muscle fibers and, in later stages, shows fat and connective tissue deposits; dystrophin is absent in Duchenne’s dystrophy and diminished in Becker’s dystrophy. Serum creatine kinase is markedly elevated in Duchenne’s, but only moderately elevated in Becker’s and facioscapulohumeral dystrophies.
Immunologic and molecular biological assays available in specialized medical centers facilitate accurate prenatal and postnatal diagnosis of Duchenne’s and Becker’s muscular dystrophies and are replacing muscle biopsy and elevated serum creatine kinase levels in diagnosing these dystrophies. These assays can also help to identify carriers.
Source: Professional Guide to Diseases (Eighth Edition), 2005
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