Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)

Only a few studies have reported muscle imaging data on small cohorts of patients with myotonic dystrophy type 1 (DM1). We aimed to investigate the muscle involvement in a large cohort of patients in order to refine the pattern of muscle involvement, to better understand the pathophysiological mecha...

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Autores: Garibaldi, Matteo|||0000-0003-1830-2886, Nicoletti, Tommaso|||0000-0002-9335-1218, Bucci, Elisabetta, Fionda, Laura|||0000-0002-8813-2272, Leonardi, Luca, Morino, Stefania, Tufano, Laura, Alfieri, Girolamo, Lauletta, Antonio, Merlonghi, Gioia, Perna, Alessia, Rossi, Salvatore|||0000-0002-7102-9180, Ricci, Enzo, Alonso Pérez, Jorge|||0000-0001-8866-5186, Tartaglione, Tommaso, Petrucci, Antonio, Pennisi, Elena Maria, Salvetti, Marco|||0000-0002-0501-8803, Cutter, Gary, Diaz-Manera, Jordi|||0000-0003-2941-7988, Silvestri, Gabriella|||0000-0002-1950-1468, Antonini, Giovanni
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:282984
Acceso en línea:https://ddd.uab.cat/record/282984
https://dx.doi.org/urn:doi:10.1111/ene.15174
Access Level:acceso abierto
Palabra clave:Clinical trials
CTG
Muscle atrophy and inflammation
Muscle MRI
Myotonic dystrophy type 1
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spelling Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)Refining muscle involvement and implications for clinical trialsGaribaldi, Matteo|||0000-0003-1830-2886Nicoletti, Tommaso|||0000-0002-9335-1218Bucci, ElisabettaFionda, Laura|||0000-0002-8813-2272Leonardi, LucaMorino, StefaniaTufano, LauraAlfieri, GirolamoLauletta, AntonioMerlonghi, GioiaPerna, AlessiaRossi, Salvatore|||0000-0002-7102-9180Ricci, EnzoAlonso Pérez, Jorge|||0000-0001-8866-5186Tartaglione, TommasoPetrucci, AntonioPennisi, Elena MariaSalvetti, Marco|||0000-0002-0501-8803Cutter, GaryDiaz-Manera, Jordi|||0000-0003-2941-7988Silvestri, Gabriella|||0000-0002-1950-1468Antonini, GiovanniClinical trialsCTGMuscle atrophy and inflammationMuscle MRIMyotonic dystrophy type 1Only a few studies have reported muscle imaging data on small cohorts of patients with myotonic dystrophy type 1 (DM1). We aimed to investigate the muscle involvement in a large cohort of patients in order to refine the pattern of muscle involvement, to better understand the pathophysiological mechanisms of muscle weakness, and to identify potential imaging biomarkers for disease activity and severity. One hundred and thirty-four DM1 patients underwent a cross-sectional muscle magnetic resonance imaging (MRI) study. Short tau inversion recovery (STIR) and T1 sequences in the lower and upper body were analyzed. Fat replacement, muscle atrophy and STIR positivity were evaluated using three different scales. Correlations between MRI scores, clinical features and genetic background were investigated. The most frequent pattern of muscle involvement in T1 consisted of fat replacement of the tongue, sternocleidomastoideus, paraspinalis, gluteus minimus, distal quadriceps and gastrocnemius medialis. Degree of fat replacement at MRI correlated with clinical severity and disease duration, but not with CTG expansion. Fat replacement was also detected in milder/asymptomatic patients. More than 80% of patients had STIR-positive signals in muscles. Most DM1 patients also showed a variable degree of muscle atrophy regardless of MRI signs of fat replacement. A subset of patients (20%) showed a 'marbled' muscle appearance. Muscle MRI is a sensitive biomarker of disease severity alsofor the milder spectrum of disease. STIR hyperintensity seems to precede fat replacement in T1. Beyond fat replacement, STIR positivity, muscle atrophy and a 'marbled' appearance suggest further mechanisms of muscle wasting and weakness in DM1, representing additional outcome measures and therapeutic targets for forthcoming clinical trials. We refined the pattern of muscle involvement in DM1 by upper and lower body muscle magnetic resonance imaging (MRI), identifying the most frequent pattern of fat replacement and confirming that muscle MRI is a sensitive biomarker of disease burden in DM1. We also observed: STIR-positive muscles in 80% of patients preceding fat replacement, muscle atrophy in muscles unreplaced by fat, and progeroid muscle appearance supporting a premature muscle senescence. Our findings provide novel insights into the pathophysiological mechanisms of muscle wasting and weakness in DM1, and could represent additional outcome measures and therapeutic targets for forthcoming clinical trials. 22021-01-0120212021-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/282984https://dx.doi.org/urn:doi:10.1111/ene.15174reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2829842026-06-06T12:50:31Z
dc.title.none.fl_str_mv Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)
Refining muscle involvement and implications for clinical trials
title Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)
spellingShingle Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)
Garibaldi, Matteo|||0000-0003-1830-2886
Clinical trials
CTG
Muscle atrophy and inflammation
Muscle MRI
Myotonic dystrophy type 1
title_short Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)
title_full Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)
title_fullStr Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)
title_full_unstemmed Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)
title_sort Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1)
dc.creator.none.fl_str_mv Garibaldi, Matteo|||0000-0003-1830-2886
Nicoletti, Tommaso|||0000-0002-9335-1218
Bucci, Elisabetta
Fionda, Laura|||0000-0002-8813-2272
Leonardi, Luca
Morino, Stefania
Tufano, Laura
Alfieri, Girolamo
Lauletta, Antonio
Merlonghi, Gioia
Perna, Alessia
Rossi, Salvatore|||0000-0002-7102-9180
Ricci, Enzo
Alonso Pérez, Jorge|||0000-0001-8866-5186
Tartaglione, Tommaso
Petrucci, Antonio
Pennisi, Elena Maria
Salvetti, Marco|||0000-0002-0501-8803
Cutter, Gary
Diaz-Manera, Jordi|||0000-0003-2941-7988
Silvestri, Gabriella|||0000-0002-1950-1468
Antonini, Giovanni
author Garibaldi, Matteo|||0000-0003-1830-2886
author_facet Garibaldi, Matteo|||0000-0003-1830-2886
Nicoletti, Tommaso|||0000-0002-9335-1218
Bucci, Elisabetta
Fionda, Laura|||0000-0002-8813-2272
Leonardi, Luca
Morino, Stefania
Tufano, Laura
Alfieri, Girolamo
Lauletta, Antonio
Merlonghi, Gioia
Perna, Alessia
Rossi, Salvatore|||0000-0002-7102-9180
Ricci, Enzo
Alonso Pérez, Jorge|||0000-0001-8866-5186
Tartaglione, Tommaso
Petrucci, Antonio
Pennisi, Elena Maria
Salvetti, Marco|||0000-0002-0501-8803
Cutter, Gary
Diaz-Manera, Jordi|||0000-0003-2941-7988
Silvestri, Gabriella|||0000-0002-1950-1468
Antonini, Giovanni
author_role author
author2 Nicoletti, Tommaso|||0000-0002-9335-1218
Bucci, Elisabetta
Fionda, Laura|||0000-0002-8813-2272
Leonardi, Luca
Morino, Stefania
Tufano, Laura
Alfieri, Girolamo
Lauletta, Antonio
Merlonghi, Gioia
Perna, Alessia
Rossi, Salvatore|||0000-0002-7102-9180
Ricci, Enzo
Alonso Pérez, Jorge|||0000-0001-8866-5186
Tartaglione, Tommaso
Petrucci, Antonio
Pennisi, Elena Maria
Salvetti, Marco|||0000-0002-0501-8803
Cutter, Gary
Diaz-Manera, Jordi|||0000-0003-2941-7988
Silvestri, Gabriella|||0000-0002-1950-1468
Antonini, Giovanni
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Clinical trials
CTG
Muscle atrophy and inflammation
Muscle MRI
Myotonic dystrophy type 1
topic Clinical trials
CTG
Muscle atrophy and inflammation
Muscle MRI
Myotonic dystrophy type 1
description Only a few studies have reported muscle imaging data on small cohorts of patients with myotonic dystrophy type 1 (DM1). We aimed to investigate the muscle involvement in a large cohort of patients in order to refine the pattern of muscle involvement, to better understand the pathophysiological mechanisms of muscle weakness, and to identify potential imaging biomarkers for disease activity and severity. One hundred and thirty-four DM1 patients underwent a cross-sectional muscle magnetic resonance imaging (MRI) study. Short tau inversion recovery (STIR) and T1 sequences in the lower and upper body were analyzed. Fat replacement, muscle atrophy and STIR positivity were evaluated using three different scales. Correlations between MRI scores, clinical features and genetic background were investigated. The most frequent pattern of muscle involvement in T1 consisted of fat replacement of the tongue, sternocleidomastoideus, paraspinalis, gluteus minimus, distal quadriceps and gastrocnemius medialis. Degree of fat replacement at MRI correlated with clinical severity and disease duration, but not with CTG expansion. Fat replacement was also detected in milder/asymptomatic patients. More than 80% of patients had STIR-positive signals in muscles. Most DM1 patients also showed a variable degree of muscle atrophy regardless of MRI signs of fat replacement. A subset of patients (20%) showed a 'marbled' muscle appearance. Muscle MRI is a sensitive biomarker of disease severity alsofor the milder spectrum of disease. STIR hyperintensity seems to precede fat replacement in T1. Beyond fat replacement, STIR positivity, muscle atrophy and a 'marbled' appearance suggest further mechanisms of muscle wasting and weakness in DM1, representing additional outcome measures and therapeutic targets for forthcoming clinical trials. We refined the pattern of muscle involvement in DM1 by upper and lower body muscle magnetic resonance imaging (MRI), identifying the most frequent pattern of fat replacement and confirming that muscle MRI is a sensitive biomarker of disease burden in DM1. We also observed: STIR-positive muscles in 80% of patients preceding fat replacement, muscle atrophy in muscles unreplaced by fat, and progeroid muscle appearance supporting a premature muscle senescence. Our findings provide novel insights into the pathophysiological mechanisms of muscle wasting and weakness in DM1, and could represent additional outcome measures and therapeutic targets for forthcoming clinical trials.
publishDate 2021
dc.date.none.fl_str_mv 2
2021-01-01
2021
2021-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/282984
https://dx.doi.org/urn:doi:10.1111/ene.15174
url https://ddd.uab.cat/record/282984
https://dx.doi.org/urn:doi:10.1111/ene.15174
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
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dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
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https://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv openAccess
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dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
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repository.mail.fl_str_mv
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