Early clues to muscular dystrophy in boys

A combination of 2 developmental delays in toddler boys can alert physicians to the possibility of Duchenne muscular dystrophy (DMD) and lead to earlier diagnosis, a new study reports.

Boys who start walking later than 16 months of age often have cognitive delays as well, and the combination can provide one of the earliest clues to a DMD diagnosis, researchers at Johns Hopkins University found. Examination of clinical records for 179 boys with DMD referred to the Johns Hopkins Children’s Center between 1989 and 2012 revealed that boys who had cognitive delays were 3 times more likely to have a delay in walking, too. The association was independent of the rate of motor degeneration and age at diagnosis.

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The study also found that late walkers with DMD didn’t receive a diagnostic referral sooner than boys who walked at the usual age, between 9 and 16 months, suggesting that primary caregivers overlook late walking as a possible warning of DMD in children with cognitive delay. The researchers note that recognizing DMD as a cause of global developmental delay could significantly lower the age of diagnosis. They recommend including an “inexpensive and sensitive” serum creatine kinase test for elevated levels of the protein, which is released as a result of muscle damage or muscle cell death, in the standard workup for toddler and preschool boys who have motor and cognitive delays.

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