Opinion
Video
Early Recognition of Duchenne Muscular Dystrophy: Key Signs Across Developmental Domains
Author(s):
An expert discusses the typical presentation and diagnosis of Duchenne muscular dystrophy (DMD) around ages 5 to 6, highlighting early signs such as motor delays, Gower sign, and developmental concerns, while emphasizing the importance of newborn screening, clinician awareness, and developmental monitoring to enable earlier intervention and improved outcomes.
Summary for Physicians
Typical Age and Presentation of DMD Diagnosis
DMD is most commonly diagnosed around ages 5 to 6, often after concerns are raised by teachers or caregivers observing motor delays, frequent falls, or difficulty with tasks such as climbing stairs or running. Initial symptoms include impaired gross and fine motor skills, language delays, and social developmental concerns, reflecting possible brain involvement.
Key Clinical Signs
Children with DMD may show fatigue, abnormal gait, and hallmark signs such as the Gower sign—using their hands to push off the legs to stand—indicating proximal muscle weakness.
Strategies to Lower Age of Diagnosis
Implementing newborn screening universally, increasing pediatrician and caregiver awareness, and promoting the use of routine developmental checklists can lead to earlier identification. Earlier diagnosis enables timely initiation of therapies that may delay progression and preserve muscle and organ function.
Newsletter
Keep your finger on the pulse of neurology—subscribe to NeurologyLive for expert interviews, new data, and breakthrough treatment updates.
