ArticleCureus2025
Assessing Delays in Time to Diagnosis of Duchenne Muscular Dystrophy: A Survey of Current Primary Care Practices.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
7 authors.
Funding
Abstract
backgroundDuchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder in which delayed recognition remains a significant challenge in primary care. Early identification remains a significant challenge in primary care. Early identification is essential to enable timely referral, diagnostic testing, and initiation of supportive and disease-modifying therapies. However, variability in developmental screening practices and uncertainty regarding appropriate diagnostic evaluation may contribute to ongoing delays.
aimTo investigate current practices in diagnosing and managing DMD, focusing on screening tools for developmental milestones and the referral process for suspected cases, and to understand the challenges and opportunities in early identification, diagnosis, and long-term care for individuals with DMD.
methodsA 13-item needs survey was developed by a multidisciplinary team, including pediatricians and a pediatric neuromuscular specialist, to ensure content relevance and clarity. The face and content validity of the survey were established through expert review before distribution. This survey was then distributed nationally to 325 healthcare professionals using a mixed approach of open and closed-ended questions to evaluate screening tools used for developmental milestones, referral processes for suspected DMD diagnosis, and their involvement in ongoing DMD management.
resultsA total of 90% of clinicians were aware of checking creatinine kinase levels for DMD diagnosis; however, only 17% used it as a primary action for suspected motor delays. Approximately one-third of respondents did not use a primary screening tool for developmental delays, often opting for a "wait and see" approach instead. Thematic analysis of open-ended responses highlighted four main roles perceived by clinicians in DMD management: early detection, care coordination, referrals, and supporting patients and caregivers.
conclusionsClinicians play a crucial role in coordinating care for DMD patients, but there are gaps in standardized screening and diagnosis practices. Improved education for primary care clinicians is necessary to enhance the recognition and management of neuromuscular disorders, facilitating early access to therapies, and improving patient outcomes.
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