Muscular Dystrophies

Adv Exp Med Biol. 2025:1478:245-284. doi: 10.1007/978-3-031-88361-3_11.

Abstract

Skeletal muscles remodel and regenerate in response to physiological and pathological conditions. Muscle disorders can be caused by disturbance of molecular and cellular pathways that are important in maintaining muscle homeostasis in response to physiological stimuli and environmental challenges. Muscular dystrophies are a heterogeneous group of rare, progressive diseases involving muscle degeneration and regeneration, with defects and failure in regeneration contributing to muscle loss and functional decline. Currently, there is no cure for these diseases, although many therapeutic approaches are in development. In this chapter, we discuss genetic causes, disease mechanisms, and therapeutic development for the most common muscular dystrophies, including Duchenne muscular dystrophy (DMD), myotonic dystrophy (MD) facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophies (LGMD).

Keywords: Atrophy; Degeneration; Dystrophy; Myopathy; Regeneration.

Publication types

  • Review

MeSH terms

  • Animals
  • Humans
  • Muscle, Skeletal* / metabolism
  • Muscle, Skeletal* / pathology
  • Muscle, Skeletal* / physiopathology
  • Muscular Dystrophies* / genetics
  • Muscular Dystrophies* / pathology
  • Muscular Dystrophies* / therapy
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Muscular Dystrophies, Limb-Girdle / pathology
  • Muscular Dystrophies, Limb-Girdle / therapy
  • Muscular Dystrophy, Duchenne / genetics
  • Muscular Dystrophy, Duchenne / pathology
  • Muscular Dystrophy, Duchenne / therapy
  • Muscular Dystrophy, Facioscapulohumeral / genetics
  • Muscular Dystrophy, Facioscapulohumeral / pathology
  • Muscular Dystrophy, Facioscapulohumeral / therapy
  • Myotonic Dystrophy / genetics
  • Myotonic Dystrophy / pathology
  • Myotonic Dystrophy / therapy