Introduction Although Duchenne muscular dystrophy (DMD) necessitates lifelong integrated management, awareness of the condition among healthcare professionals in China remains lacking. This study assesses DMD-related knowledge within a national rare disease alliance to identify critical gaps in clinical practice. Methods Data were collected via an online survey of medical staff across general, maternal-child, and pediatric hospitals. A structured questionnaire, developed by a multicenter expert team and refined through pilot testing, was used to assess awareness of disease diagnosis, treatment, and policy. Convenience sampling was employed, and eligible participants completed the survey anonymously. Results Out of 510 distributed questionnaires, 496 valid responses were analyzed. Participants' age ranged from 21 to 68 years, with a mean of 35.73 ± 7.32 years. The overall awareness rate for DMD was 54.64%, with specific rates of 82.46% for treatment, 67.74% for diagnosis, and 42.74% for policy. Univariable analyses indicated that sex, age, occupation, professional title, educational background, professional specialty, and hospital type were associated with awareness levels ( P 0.05). Multivariable logistic regression identified occupation, education, and years of experience as independent predictors. Compared with nurses, medical technicians (OR = 2.69, 95% CI 1.39–5.21) and physicians (OR = 2.24, 95% CI 1.15–4.37) demonstrated higher awareness. Notably, participants with postgraduate education exhibited significantly higher awareness than those with undergraduate education (OR = 1.88, 95% CI 1.01–3.53), and practitioners with 5–10 years of experience outperformed those with fewer than 5 years (OR = 2.54, 95% CI 1.16–5.59). Conclusion Frontline medical staff in China have critical knowledge gaps regarding DMD genomic diagnostics and related orphan drug policies. These gaps are strongly driven by occupational disparities, especially the systematically lower awareness among nursing staff. To build the multidisciplinary clinical infrastructure needed for the coming era of precision genomic therapy, it is imperative to shift from general professional education to targeted, competency-based DMD training.
Zhai et al. (Thu,) studied this question.