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Limb–Girdle Muscular Dystrophies Classification and Therapies

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...

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Detalles Bibliográficos
Autores principales: Bouchard, Camille, Tremblay, Jacques P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10381329/
https://www.ncbi.nlm.nih.gov/pubmed/37510884
http://dx.doi.org/10.3390/jcm12144769
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author Bouchard, Camille
Tremblay, Jacques P.
author_facet Bouchard, Camille
Tremblay, Jacques P.
author_sort Bouchard, Camille
collection PubMed
description 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.
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spelling pubmed-103813292023-07-29 Limb–Girdle Muscular Dystrophies Classification and Therapies Bouchard, Camille Tremblay, Jacques P. J Clin Med Review 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. MDPI 2023-07-19 /pmc/articles/PMC10381329/ /pubmed/37510884 http://dx.doi.org/10.3390/jcm12144769 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Bouchard, Camille
Tremblay, Jacques P.
Limb–Girdle Muscular Dystrophies Classification and Therapies
title Limb–Girdle Muscular Dystrophies Classification and Therapies
title_full Limb–Girdle Muscular Dystrophies Classification and Therapies
title_fullStr Limb–Girdle Muscular Dystrophies Classification and Therapies
title_full_unstemmed Limb–Girdle Muscular Dystrophies Classification and Therapies
title_short Limb–Girdle Muscular Dystrophies Classification and Therapies
title_sort limb–girdle muscular dystrophies classification and therapies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10381329/
https://www.ncbi.nlm.nih.gov/pubmed/37510884
http://dx.doi.org/10.3390/jcm12144769
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