Limb-Girdle Muscular Dystrophies Classification and Therapies.

Abstract

Limb-girdle muscular dystrophies (LGMDs) are caused by mutations in multiple genes. This review article presents 39 genes associated with LGMDs. Some forms are inherited in a dominant fashion, while for others this occurs recessively. The classification of LGMDs has evolved through time. Lately, to be considered an LGMD, the mutation has to cause a predominant proximal muscle weakness and must be found in two or more unrelated families. This article also presents therapies for LGMDs, examining both available treatments and those in development. For now, only symptomatic treatments are available for patients. The goal is now to solve the problem at the root of LGMDs instead of treating each symptom individually. In the last decade, multiple other potential treatments were developed and studied, such as stem-cell transplantation, exon skipping, gene delivery, RNAi, and gene editing.

• Authors: Camille Bouchard, Jacques P Tremblay
• Journal: Journal of clinical medicine (J Clin Med) Vol. 12 Issue 14 (Jul 19 2023) ISSN: 2077-0383 [Print] Switzerland
• PMID: 37510884 (Publication Type: Journal Article, Review)