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DOI 10.3390/muscles5010021

Медицинская библиотека · Muscles (Basel, Switzerland) · 2026

Duchenne Muscular Dystrophy: Contemporary Therapeutic Options and Real-World Challenges in Treatment Selection.

Pesco Maria Tozzo, Öztürk Gülru Zeynep, Bhadola Shivkumar C, Chrzanowski Stephen M, Gushchina Liubov V, D'Ambrosio Eleonora S

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Аннотация

Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder caused by loss-of-function mutations in the dystrophin gene, leading to progressive muscle degeneration, motor decline, respiratory compromise, and cardiomyopathy. Diagnosis typically occurs in early childhood following recognition of motor delays, markedly elevated creatine kinase, and confirmatory genetic testing. Over the past decade, the therapeutic landscape for DMD has expanded substantially, evolving from exclusively supportive care to patient-centric multifaceted treatment paradigms, including corticosteroids, mutation-specific therapies, small molecule disease-modifying approaches, and gene replacement strategies. Despite these advances, no currently available therapy restores full-length dystrophin or completely halts disease progression. This review provides a clinically oriented comprehensive overview of currently Food and Drug Administration (FDA)-approved medications for DMD, with particular emphasis on corticosteroids, exon-skipping therapies, nonsense mutation readthrough agents, recently approved gene therapy, and select ongoing gene therapy trials. We summarize mechanisms of action, clinical efficacy, safety considerations, regulatory status, and highlight the challenges of integrating these therapies into longitudinal care. Through illustrative clinical vignettes, we highlight the real-world complexity of treatment selection, shared decision-making, and longitudinal care planning in contemporary DMD management.

Для цитирования: Pesco Maria Tozzo, Öztürk Gülru Zeynep, Bhadola Shivkumar C, Chrzanowski Stephen M, Gushchina Liubov V, D'Ambrosio Eleonora S. Duchenne Muscular Dystrophy: Contemporary Therapeutic Options and Real-World Challenges in Treatment Selection.. Muscles (Basel, Switzerland). 2026. DOI: 10.3390/muscles5010021.
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