Our 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 years in our patients. Delayed development occurred in 87% of our patients, and diagnosis could have been made by a mean age of 1.5 years 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, we urge CK screening for Duchenne's dystrophy in boys with any type of developmental delay.
Crisp DE, Ziter FA, Bray PF. Diagnostic Delay in Duchenne's Muscular Dystrophy. JAMA. 1982;247(4):478–480. doi:10.1001/jama.1982.03320290024023
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