Loading
Muscle Physiology and Disorders / Genetic Neurodegenerative Diseases / CRISPR and Genetic Engineering · Journal article
Skeletal Muscle · July 27, 2026
A consensus or society position rather than new primary data.
This is a narrative review summarizing the molecular basis, clinical presentation, and therapeutic landscape of Duchenne muscular dystrophy. It synthesizes current knowledge of disease-modifying strategies including exon-skipping, readthrough agents, AAV gene replacement, and genome editing, while acknowledging significant limitations in existing therapies and outlining future directions. The work serves as an educational overview rather than presenting new evidence to change practice.
Journal article. Individuals with Duchenne muscular dystrophy; X-linked inherited disorder.
DMD is caused by dystrophin gene mutations resulting in absence of functional dystrophin protein Current therapeutic approaches include exon-skipping antisense oligonucleotides, nonsense mutation readthrough agents, AAV-mediated micro-dystrophin gene replacement, and CRISPR/Cas9 genome editing Existing treatments have limitations including mutation specificity, variable efficacy, immune-related challenges, and uncertainties about long-term durability and safety
Existing treatments have limitations including mutation specificity, variable efficacy, immune-related challenges, and uncertainties about long-term durability and safety
Clinicians and researchers should reference this review for a comprehensive overview of DMD pathophysiology and the current state of therapeutic development, including both established and emerging approaches. The synthesis of limitations in existing therapies and discussion of future directions may inform treatment selection and counselling regarding realistic expectations.
A comprehensive narrative review synthesizing current understanding of DMD pathophysiology, clinical management, and therapeutic landscape without presenting new original data or clinical trial results.
Clinicians and researchers should reference this review for a comprehensive overview of DMD pathophysiology and the current state of therapeutic development, including both established and emerging approaches. The synthesis of limitations in existing therapies and discussion of future directions may inform treatment selection and counselling regarding realistic expectations.
Graded across the dimensions that decide whether you should act, each from what the source actually supports. There is no single score, and where a dimension was not assessed it says so.
What is missing. This record has no reported figures. That is a gap in the analysis, not a judgement about the study.
Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder caused by mutations in the dystrophin gene that result in the absence of functional dystrophin, leading to progressive muscle degeneration, loss of ambulation, respiratory failure, cardiomyopathy, and premature mortality. Despite advances in multidisciplinary supportive care, DMD remains an incurable disease associated with substantial physical, psychosocial, and economic burdens. The monogenic nature of DMD and its well-defined molecular pathogenesis have made it a prime target for the development of precision therapies aimed at restoring dystrophin expression or modifying disease progression. This review provides an overview of the genetic and molecular mechanisms underlying DMD, summarizes its clinical manifestations and natural history, and discusses current standards of care. It further examines recent advances in disease-modifying therapeutic strategies, including exon-skipping antisense oligonucleotides, nonsense mutation readthrough agents, adeno-associated virus (AAV)-mediated micro-dystrophin gene replacement, and emerging genome-editing technologies such as CRISPR/Cas9. The review also highlights the limitations of existing treatments, including mutation specificity, variable efficacy, immune-related challenges, and uncertainties regarding long-term durability and safety. Finally, it considers future directions in therapeutic development, emphasizing the need for combination approaches, improved delivery systems, and next-generation gene-editing platforms to achieve more effective and lasting clinical outcomes. Collectively, these advances represent a paradigm shift in DMD management and offer renewed hope for improving survival and quality of life for affected individuals.
Taken from the source record, never inferred. Follow any of these and new work involving them reaches your briefing.