Diagnostic delay in Duchenne's muscular dystrophy

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Abstract
Analysis of 31 patients with Duchenne''s dystrophy indicates that clinicians still rely on the appearance of overt gait abnormalities before considering the diagnosis. The mean age of diagnosis was 4.7 yr in this group of patients. Delayed development occurred in 87% of the patients; diagnosis could have been made by a mean age of 1.5 yr because massive elevation of serum creatine kinase (CK) levels would have indicated the disorder even at that early age. In view of its frequency, ease of diagnosis and genetic risk, CK screening for Duchenne''s dystrophy should be done in boys with any type of developmental delay.

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