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June 25, 1982

Diagnostic Delay in Duchenne's Muscular Dystrophy and Cystic Fibrosis

JAMA. 1982;247(24):3313. doi:10.1001/jama.1982.03320490017016

To the Editor.—  In an analysis of diagnostic delays in patients with Duchenne's muscular dystrophy (DMD), Crisp et al (1982;247:478) found that the average elapsed time between initial parental concern and final diagnosis was 3.0 years. These delays occurred even though massive elevation of serum creatine kinase levels is a reliable biochemical marker for the early detection of DMD. It is of interest to note the similarities between DMD, which is transmitted as an X-linked recessive, and cystic fibrosis (CF), which is transmitted as an autosomal recessive. In the case of both diseases, the basic defect is unknown, there is no specific therapy, a reliable test is available for early diagnosis (sweat test for CF), the course is marked by recurrent pulmonary infections and eventual respiratory failure, and average survival is 20 years. There is also a similarity in diagnostic delays. We have reviewed the records of 194 patients with