The diagnosis of Duchenne's muscular dystrophy is suggested by the finding of serum creatine kinase 30 to 200 times higher than normal, myopathic changes on electromyography and characteristic findings on muscle biopsy. Note that the serum creatine kinase is raised before the muscular weakness becomes clinically evident.
Note that the serum creatinine is also slightly raised in female carriers.
It is possible to do chromosomal analysis of the deleted part of the genome - chromosome Xp21 - and get a genetic confirmation of the disease
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