Cargando…
Inclusion body myositis: from genetics to clinical trials
Inclusion body myositis (IBM) belongs to the group of idiopathic inflammatory myopathies and is characterized by a slowly progressive disease course with asymmetric muscle weakness of predominantly the finger flexors and knee extensors. The disease leads to severe disability and most patients lose a...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971047/ https://www.ncbi.nlm.nih.gov/pubmed/36399165 http://dx.doi.org/10.1007/s00415-022-11459-3 |
_version_ | 1784898025955524608 |
---|---|
author | Nagy, Sara Khan, Alaa Machado, Pedro M. Houlden, Henry |
author_facet | Nagy, Sara Khan, Alaa Machado, Pedro M. Houlden, Henry |
author_sort | Nagy, Sara |
collection | PubMed |
description | Inclusion body myositis (IBM) belongs to the group of idiopathic inflammatory myopathies and is characterized by a slowly progressive disease course with asymmetric muscle weakness of predominantly the finger flexors and knee extensors. The disease leads to severe disability and most patients lose ambulation due to lack of curative or disease-modifying treatment options. Despite some genes reported to be associated with hereditary IBM (a distinct group of conditions), data on the genetic susceptibility of sporadic IBM are very limited. This review gives an overview of the disease and focuses on the current genetic knowledge and potential therapeutic implications. |
format | Online Article Text |
id | pubmed-9971047 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-99710472023-03-01 Inclusion body myositis: from genetics to clinical trials Nagy, Sara Khan, Alaa Machado, Pedro M. Houlden, Henry J Neurol Neurological Update Inclusion body myositis (IBM) belongs to the group of idiopathic inflammatory myopathies and is characterized by a slowly progressive disease course with asymmetric muscle weakness of predominantly the finger flexors and knee extensors. The disease leads to severe disability and most patients lose ambulation due to lack of curative or disease-modifying treatment options. Despite some genes reported to be associated with hereditary IBM (a distinct group of conditions), data on the genetic susceptibility of sporadic IBM are very limited. This review gives an overview of the disease and focuses on the current genetic knowledge and potential therapeutic implications. Springer Berlin Heidelberg 2022-11-18 2023 /pmc/articles/PMC9971047/ /pubmed/36399165 http://dx.doi.org/10.1007/s00415-022-11459-3 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Neurological Update Nagy, Sara Khan, Alaa Machado, Pedro M. Houlden, Henry Inclusion body myositis: from genetics to clinical trials |
title | Inclusion body myositis: from genetics to clinical trials |
title_full | Inclusion body myositis: from genetics to clinical trials |
title_fullStr | Inclusion body myositis: from genetics to clinical trials |
title_full_unstemmed | Inclusion body myositis: from genetics to clinical trials |
title_short | Inclusion body myositis: from genetics to clinical trials |
title_sort | inclusion body myositis: from genetics to clinical trials |
topic | Neurological Update |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971047/ https://www.ncbi.nlm.nih.gov/pubmed/36399165 http://dx.doi.org/10.1007/s00415-022-11459-3 |
work_keys_str_mv | AT nagysara inclusionbodymyositisfromgeneticstoclinicaltrials AT khanalaa inclusionbodymyositisfromgeneticstoclinicaltrials AT machadopedrom inclusionbodymyositisfromgeneticstoclinicaltrials AT houldenhenry inclusionbodymyositisfromgeneticstoclinicaltrials |