Duchenne muscular dystrophy (DMD) should be considered in boys who show signs of developmental delay, according to a study recently published in the Journal of Child Neurology.
DMD is often diagnosed when muscle weakness develops, which typically appears between 3 and 5 years of age. However, developmental delays are the first sign of DMD in some cases, and may present as speech problems, learning difficulties or social challenges.
Researchers set out to assess the age of diagnosis in boys with DMD, as well as time to diagnosis, by comparing boys whose initial symptoms were developmental delays with boys whose initial symptom was progressive muscle weakness. To carry out their study, the research team collected the health records of 127 boys with DMD who were seen at the outpatient muscle clinic of Hospital das Clínicas in Brazil between 2015 and 2024.
Among these 127 boys, researchers found that the average age of diagnosis was 6.9 years. Meanwhile, the average time between initial symptom onset and diagnosis was 3.6 years, which means that boys with DMD generally had to wait for almost four years before they were diagnosed with the disease.
Read more about DMD testing and diagnosis
When focusing specifically on boys whose initial symptoms were developmental delays instead of progressive muscle weakness, researchers found that the average age when developmental delays were noticed was 1.4 years old. Meanwhile, the average time between initial symptom onset and diagnosis was 3.4 years. Because developmental delays are typically noticed at a younger age, these children were diagnosed an average 2.7 years earlier than those with progressive muscle weakness as the first sign of DMD.
The research team concluded that DMD should be considered a diagnosis among boys who are found to have developmental delays. “Including Duchenne muscular dystrophy in the differential diagnosis of a boy with a global developmental delay (motor, speech, or cognitive) may contribute to the early detection in young males,” the study’s authors noted.
Sign up here to get the latest news, perspectives, and information about DMD sent directly to your inbox. Registration is free and only takes a minute.
