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Muscular Dystrophies

  • Yi Wen Chen*
  • , Adam J. Bittel
  • , Daniel C. Bittel
  • , Young Jae Moon
  • , Nikki M. McCormack
  • , Jyoti K. Jaiswal
  • *Corresponding author for this work
  • Children’s National Hospital
  • George Washington University

Research output: Contribution to conferenceChapterpeer-review

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).

Original languageEnglish
Title of host publicationAdvances in Experimental Medicine and Biology
PublisherSpringer
Pages245-284
Number of pages40
DOIs
StatePublished - 2025

Publication series

NameAdvances in Experimental Medicine and Biology
Volume1478
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019

Keywords

  • Atrophy
  • Degeneration
  • Dystrophy
  • Myopathy
  • Regeneration

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