Limb Girdle Muscular Dystrophies

Neurol Clin. 2020 Aug;38(3):493-504. doi: 10.1016/j.ncl.2020.03.009.

Abstract

The limb girdle muscular dystrophies (LGMDs) are genetic muscle diseases with primary skeletal muscle involvement in persons with the ability to walk independently at some point in the disease course. They usually have increased creatine kinase levels along with patterns of fatty and fibrous deposition on muscle imaging and/or dystrophic features on muscle biopsy. Distinctive clinical features provide valuable diagnostic clues to the diagnosis and sometimes treatment of these disorders. The advent of gene and cell-based therapies; gene replacement, editing, and modulation; along with stem cell and small molecule therapies may significantly ameliorate clinical severity in the LGMDs.

Keywords: Anoctamin 5; Calpain 3; Caveolin 3; Lamin A/C; Limb girdle muscular dystrophies.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Disease Progression
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / diagnostic imaging*
  • Muscular Dystrophies, Limb-Girdle / diagnostic imaging*
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Muscular Dystrophies, Limb-Girdle / therapy