Cargando…
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...
Autores principales: | , |
---|---|
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 |
_version_ | 1785080416818954240 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10381329 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT bouchardcamille limbgirdlemusculardystrophiesclassificationandtherapies AT tremblayjacquesp limbgirdlemusculardystrophiesclassificationandtherapies |