ArticleNeurology and therapy2026
Management of Duchenne Muscular Dystrophy in Clinical Practice: A Survey-Based Study in Spain.
Article in Neurology and therapy, 2026. 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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Abstract
introductionDuchenne muscular dystrophy (DMD) management is guided by established clinical standards, yet real-world implementation data in Spain remain limited. The DMD-NEEDS study aimed to characterize the pediatric management landscape as reported by a select cohort of specialists within the national pediatric neurology community.
methodsThis non-interventional, cross-sectional, web-based survey involved 41 pediatric neurologists from the Spanish Society of Pediatric Neurology (SENEP) who actively manage patients with DMD. The study focuses specifically on the pediatric stage and the transition to adult care.
resultsClinicians reported that a slight majority of patients (53.7%) were diagnosed between 2 and 3 years of age, frequently within 6 months of symptom onset. Multiplex ligation-dependent probe amplification (MLPA) was the primary diagnostic tool for 92.7% of participating clinicians, frequently supplemented by gene sequencing (80.5%) or genetic panels (75.6%) to confirm single point mutations and duplications. Estimated loss of ambulation typically occurred between ages 11 and 13 years, with major clinical complications emerging between ages 12 and 17 years. Adherence to pharmacological standards was high: 95.1% of respondents prescribed corticosteroids as first-line therapy, and 89.7% specifically utilized a high-dose deflazacort regimen (0.9 mg/kg/day). Despite these trends, 31.7% of respondents lacked access to multidisciplinary care teams, and 58.5% reported that health-related quality-of-life questionnaires are not utilized in routine practice.
conclusionThese findings reveal a proactive clinical landscape characterized by early diagnosis and high adherence to international pharmacological standards. However, persistent gaps in multidisciplinary access and patient-centered monitoring highlight critical unmet needs. The implementation of a dedicated multidisciplinary framework and standardized management protocols is essential for optimizing the care of patients with DMD.
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