Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care.
Paula van DommelenOisín van DijkJeroen A de WildePaul H VerkerkPublished in: Orphanet journal of rare diseases (2024)
The majority of boys (79%) with DMD can be identified between 12 and 36 months of age with this tool. It increases the initial a priori risk of DMD from 1 in 5,000 to approximately 1 in 268 boys. We expect that other neuromuscular disorders and disabilities can also be found with this tool.