Limb Girdle Muscular Dystrophies

Jacob Bockhorst; Matthew Wicklund

doi:10.1016/j.ncl.2020.03.009

Limb Girdle Muscular Dystrophies

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

Authors

Jacob Bockhorst¹, Matthew Wicklund²

Affiliations

¹ University of Colorado School of Medicine, Anschutz Medical Campus, Mail Stop B185, Academic Office 1, 12631 East 17th Avenue, Aurora, CO 80045, USA.
² University of Colorado School of Medicine, Anschutz Medical Campus, Mail Stop B185, Academic Office 1, 12631 East 17th Avenue, Aurora, CO 80045, USA. Electronic address: Matthew.Wicklund@CUAnschutz.edu.

PMID: 32703463
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