Opinion
Video
Newborn Screening and Primary Care Awareness for Timely Referral
Author(s):
An expert discusses strategies to lower the age of Duchenne muscular dystrophy (DMD) diagnosis, emphasizing the importance of universal newborn screening with the testing of creatine kinase (CK) levels, clinician recognition of motor red flags such as the Gower sign, early neurology referrals, and incorporating CK level testing in cognitive delay evaluations to enable timely therapeutic intervention and improve long-term outcomes.
Summary for Physicians
Strategies to Lower Age of DMD Diagnosis
Early diagnosis of DMD is critical for timely intervention and better outcomes. Key strategies include the following:
- Universal newborn screening using CK levels, which are elevated from birth in patients with DMD.
- Increased pediatric awareness of red flags such as delayed motor milestones and the Gower sign, which nearly all patients exhibit.
- Parental advocacy during pediatric visits can prompt earlier detection.
- Direct referral to neurology instead of orthopedics when motor delays are observed to avoid diagnostic delays.
- Including CK level testing in the workup for cognitive delays, as brain involvement may also be an early sign.
Early identification allows for the prompt start of steroids, exon-skipping therapies, or gene therapy, significantly improving long-term prognosis.
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