Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies

Biomolecules. 2023 Oct 17;13(10):1536. doi: 10.3390/biom13101536.

Abstract

Muscular dystrophies are a heterogeneous group of genetic muscle-wasting disorders that are subdivided based on the region of the body impacted by muscle weakness as well as the functional activity of the underlying genetic mutations. A common feature of the pathophysiology of muscular dystrophies is chronic inflammation associated with the replacement of muscle mass with fibrotic scarring. With the progression of these disorders, many patients suffer cardiomyopathies with fibrosis of the cardiac tissue. Anti-inflammatory glucocorticoids represent the standard of care for Duchenne muscular dystrophy, the most common muscular dystrophy worldwide; however, long-term exposure to glucocorticoids results in highly adverse side effects, limiting their use. Thus, it is important to develop new pharmacotherapeutic approaches to limit inflammation and fibrosis to reduce muscle damage and promote repair. Here, we examine the pathophysiology, genetic background, and emerging therapeutic strategies for muscular dystrophies.

Keywords: DUX4; dysferlin; dystroglycan; dystrophin; emerin; fibrosis; inflammation; lamin A; muscular dystrophy; sarcoglycan.

Publication types

  • Review

MeSH terms

  • Cardiomyopathies* / genetics
  • Fibrosis
  • Heart
  • Humans
  • Inflammation
  • Muscular Dystrophy, Duchenne* / drug therapy
  • Muscular Dystrophy, Duchenne* / genetics

Grants and funding

This research received no external funding.