Limb Girdle Muscular Dystrophies.

Jacob Bockhorst, Matthew Wicklund

Journal: Neurologic clinics 2020;38(3):493-504

PMID: 32703463

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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.

Address: University of Colorado School of Medicine, Anschutz Medical Campus, Mail Stop B185, Academic Office 1, 12631 East 17th Avenue, Aurora, CO 80045, USA.; 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: [email protected].

DOI: 10.1016/j.ncl.2020.03.009

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MeSH Terms: Adult, Disease Progression, Female, Humans, Male, Middle Aged, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle