Diagnosis

Asking questions about the child/patient’s motor skills, changes in the ability to walk, and progression of these changes (i.e., taking the history) gives strong clues to the diagnosis of a specific muscular dystrophy. The location and pattern of muscle weakness also helps. Definitive diagnosis these days is usually made by genetic testing. A simple (but expensive) blood test can help doctor’s determine the diagnosis and clearly identify the genetic change that caused the disease. Another blood test, creatinine kinase, can be extremely elevated in certain cases, and this helps make the diagnosis, but this test alone is usually not specific to any one disease. Less often, a muscle biopsy (surgically-removed muscle sample) or electromyogram (electric study of the muscles) is used in those cases in which genetic testing is undiagnostic. For genetic counseling purposes and family planning, other family members may also be tested (with a blood test) for a specific muscle disease.
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