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Muscle MRI and functional outcome measures in Becker muscular dystrophy
Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD. Muscle magnetic resonance imaging (MRI) has...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700122/ https://www.ncbi.nlm.nih.gov/pubmed/29167533 http://dx.doi.org/10.1038/s41598-017-16170-2 |
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author | Barp, Andrea Bello, Luca Caumo, Luca Campadello, Paola Semplicini, Claudio Lazzarotto, Annalisa Sorarù, Gianni Calore, Chiara Rampado, Alessandro Motta, Raffaella Stramare, Roberto Pegoraro, Elena |
author_facet | Barp, Andrea Bello, Luca Caumo, Luca Campadello, Paola Semplicini, Claudio Lazzarotto, Annalisa Sorarù, Gianni Calore, Chiara Rampado, Alessandro Motta, Raffaella Stramare, Roberto Pegoraro, Elena |
author_sort | Barp, Andrea |
collection | PubMed |
description | Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD. Muscle magnetic resonance imaging (MRI) has been proposed as biomarker of disease progression in dystrophinopathies. Correlation with clinically meaningful outcome measures such as North Star Ambulatory Assessment (NSAA) and 6 minute walk test (6MWT) is paramount for biomarker qualification. In this study, 51 molecularly confirmed BMD patients (aged 7–69 years) underwent muscle MRI and were evaluated with functional measures (NSAA and 6MWT) at the time of the MRI, and subsequently after one year. We confirmed a pattern of fatty substitution involving mainly the hip extensors and most thigh muscles. Severity of muscle fatty substitution was significantly correlated with specific DMD mutations: in particular, patients with an isolated deletion of exon 48, or deletions bordering exon 51, showed milder involvement. Fat infiltration scores correlated with baseline functional measures, and predicted changes after 1 year. We conclude that in BMD, skeletal muscle MRI not only strongly correlates with motor function, but also helps in predicting functional deterioration within a 12-month time frame. |
format | Online Article Text |
id | pubmed-5700122 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-57001222017-11-30 Muscle MRI and functional outcome measures in Becker muscular dystrophy Barp, Andrea Bello, Luca Caumo, Luca Campadello, Paola Semplicini, Claudio Lazzarotto, Annalisa Sorarù, Gianni Calore, Chiara Rampado, Alessandro Motta, Raffaella Stramare, Roberto Pegoraro, Elena Sci Rep Article Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD. Muscle magnetic resonance imaging (MRI) has been proposed as biomarker of disease progression in dystrophinopathies. Correlation with clinically meaningful outcome measures such as North Star Ambulatory Assessment (NSAA) and 6 minute walk test (6MWT) is paramount for biomarker qualification. In this study, 51 molecularly confirmed BMD patients (aged 7–69 years) underwent muscle MRI and were evaluated with functional measures (NSAA and 6MWT) at the time of the MRI, and subsequently after one year. We confirmed a pattern of fatty substitution involving mainly the hip extensors and most thigh muscles. Severity of muscle fatty substitution was significantly correlated with specific DMD mutations: in particular, patients with an isolated deletion of exon 48, or deletions bordering exon 51, showed milder involvement. Fat infiltration scores correlated with baseline functional measures, and predicted changes after 1 year. We conclude that in BMD, skeletal muscle MRI not only strongly correlates with motor function, but also helps in predicting functional deterioration within a 12-month time frame. Nature Publishing Group UK 2017-11-22 /pmc/articles/PMC5700122/ /pubmed/29167533 http://dx.doi.org/10.1038/s41598-017-16170-2 Text en © The Author(s) 2017 Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Barp, Andrea Bello, Luca Caumo, Luca Campadello, Paola Semplicini, Claudio Lazzarotto, Annalisa Sorarù, Gianni Calore, Chiara Rampado, Alessandro Motta, Raffaella Stramare, Roberto Pegoraro, Elena Muscle MRI and functional outcome measures in Becker muscular dystrophy |
title | Muscle MRI and functional outcome measures in Becker muscular dystrophy |
title_full | Muscle MRI and functional outcome measures in Becker muscular dystrophy |
title_fullStr | Muscle MRI and functional outcome measures in Becker muscular dystrophy |
title_full_unstemmed | Muscle MRI and functional outcome measures in Becker muscular dystrophy |
title_short | Muscle MRI and functional outcome measures in Becker muscular dystrophy |
title_sort | muscle mri and functional outcome measures in becker muscular dystrophy |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700122/ https://www.ncbi.nlm.nih.gov/pubmed/29167533 http://dx.doi.org/10.1038/s41598-017-16170-2 |
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