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<p>Muscular dystrophy (MD) comprises a class of genetic conditions characterized by the progressive degeneration and weakness of skeletal muscle. Genetic etiologies differ among the major muscular dystrophies: myotonic dystrophy type 1 (DM1) is linked to CTG repeat expansion in DMPK whereas DM2 is linked to CCTG repeat expansion in CNBP; facioscapulohumeral muscular dystrophy (FSHD1) is linked to contraction of the D4Z4 repeat to cause inappropriate DUX4 expression whereas FSHD2 is linked to mutations in chromatin modifier SMCHD1 that derepress DUX4 expression. Despite advancements in investigations into the molecular mechanisms, effective treatments for MD remain limited. This review study aims to elaborate on the pathogenesis of each type of MD, including the underlying genetic mutations, cellular dysfunction, and pathway deregulation. We also conduct comprehensive research on various breakthroughs in treatment strategies, including protein replacement therapies, stem-cell-based, exon skipping, gene therapy, and recently discovered drugs for MD. Furthermore, this study focuses on the artificial intelligence (AI)-based improvement in the diagnosis, management, and treatment of MD. The AI-based discovery of compounds has provided novel treatment modalities that hold potential for managing MD conditions.</p>

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Emerging therapeutic strategies in muscular dystrophy: an updated review on pathogenesis and treatment advances

  • 期刊论文

  • 发表日期：

    2026年1月12日

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  • Shahid Parwez,
  • Khurshid Ahmad,
  • Eun Ju Lee,
  • Inho Choi

摘要

Muscular dystrophy (MD) comprises a class of genetic conditions characterized by the progressive degeneration and weakness of skeletal muscle. Genetic etiologies differ among the major muscular dystrophies: myotonic dystrophy type 1 (DM1) is linked to CTG repeat expansion in DMPK whereas DM2 is linked to CCTG repeat expansion in CNBP; facioscapulohumeral muscular dystrophy (FSHD1) is linked to contraction of the D4Z4 repeat to cause inappropriate DUX4 expression whereas FSHD2 is linked to mutations in chromatin modifier SMCHD1 that derepress DUX4 expression. Despite advancements in investigations into the molecular mechanisms, effective treatments for MD remain limited. This review study aims to elaborate on the pathogenesis of each type of MD, including the underlying genetic mutations, cellular dysfunction, and pathway deregulation. We also conduct comprehensive research on various breakthroughs in treatment strategies, including protein replacement therapies, stem-cell-based, exon skipping, gene therapy, and recently discovered drugs for MD. Furthermore, this study focuses on the artificial intelligence (AI)-based improvement in the diagnosis, management, and treatment of MD. The AI-based discovery of compounds has provided novel treatment modalities that hold potential for managing MD conditions.