This multicenter cohort study of 225 Japanese patients investigated the natural history of Becker muscular dystrophy (BMD) and explored genotype-phenotype correlations. The findings revealed that the severity of skeletal, cardiac, and neurological involvement varies with the type of in-frame deletions in the DMD gene. Patients with exon 45–49 deletions showed more severe skeletal impairment, while those with exon 45–47 deletions maintained better respiratory function. These insights are crucial for guiding preventive care and therapeutic strategies in BMD management.

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Multiple exon skipping is a promising therapy for Duchenne Muscular Dystrophy (DMD), targeting genetic hot spots like exons 45–55 and 3–9 to restore dystrophin. While PMOs have shown potential, challenges in delivery remain. Advances like vivo-PMOs aim to enhance uptake. Despite promising preclinical results, clinical validation is needed to ensure effectiveness and long-term safety. Ongoing research focuses on optimizing delivery and broadening patient eligibility for exon-skipping therapies.

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This review explores exon skipping therapy for Duchenne muscular dystrophy, discussing preclinical and clinical trials, therapeutic challenges, and future developments.

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