Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials

Background 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 pathophysiolo...

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Autores: Garibaldi, M, Nicoletti, T, Bucci, E, Fionda, L, Leonardi, L, Morino, S, Tufano, L, Alfieri, G, Lauletta, A, Merlonghi, G, Perna, A, Rossi, S, Ricci, E, Perez, JA, Tartaglione, T, Petrucci, A, Pennisi, EM, Salvetti, M, Cutter, G, Diaz-Manera, J, Silvestri, G, Antonini, G
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2022
País:España
Recursos:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositório:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p5182
Acesso em linha:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5182
https://hdl.handle.net/11573/1603046
Access Level:Acceso aberto
Palavra-chave: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, MNicoletti, TBucci, EFionda, LLeonardi, LMorino, STufano, LAlfieri, GLauletta, AMerlonghi, GPerna, ARossi, SRicci, EPerez, JATartaglione, TPetrucci, APennisi, EMSalvetti, MCutter, GDiaz-Manera, JSilvestri, GAntonini, Gclinical trialsCTGmuscle atrophy and inflammationmuscle MRImyotonic dystrophy type 1Background 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. Methods 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. Results 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. Conclusions 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.WILEY2022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5182https://hdl.handle.net/11573/1603046EUROPEAN JOURNAL OF NEUROLOGYISSN: 13515101ISSNe: 14681331reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p51822026-06-14T12:41:47Z
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): Refining muscle involvement and implications for clinical trials
spellingShingle Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
Garibaldi, M
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): Refining muscle involvement and implications for clinical trials
title_full Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
title_fullStr Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
title_full_unstemmed Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
title_sort Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
dc.creator.none.fl_str_mv Garibaldi, M
Nicoletti, T
Bucci, E
Fionda, L
Leonardi, L
Morino, S
Tufano, L
Alfieri, G
Lauletta, A
Merlonghi, G
Perna, A
Rossi, S
Ricci, E
Perez, JA
Tartaglione, T
Petrucci, A
Pennisi, EM
Salvetti, M
Cutter, G
Diaz-Manera, J
Silvestri, G
Antonini, G
author Garibaldi, M
author_facet Garibaldi, M
Nicoletti, T
Bucci, E
Fionda, L
Leonardi, L
Morino, S
Tufano, L
Alfieri, G
Lauletta, A
Merlonghi, G
Perna, A
Rossi, S
Ricci, E
Perez, JA
Tartaglione, T
Petrucci, A
Pennisi, EM
Salvetti, M
Cutter, G
Diaz-Manera, J
Silvestri, G
Antonini, G
author_role author
author2 Nicoletti, T
Bucci, E
Fionda, L
Leonardi, L
Morino, S
Tufano, L
Alfieri, G
Lauletta, A
Merlonghi, G
Perna, A
Rossi, S
Ricci, E
Perez, JA
Tartaglione, T
Petrucci, A
Pennisi, EM
Salvetti, M
Cutter, G
Diaz-Manera, J
Silvestri, G
Antonini, G
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 Background 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. Methods 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. Results 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. Conclusions 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.
publishDate 2022
dc.date.none.fl_str_mv 2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5182
https://hdl.handle.net/11573/1603046
url https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5182
https://hdl.handle.net/11573/1603046
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv EUROPEAN JOURNAL OF NEUROLOGY
ISSN: 13515101
ISSNe: 14681331
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
collection r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
repository.name.fl_str_mv
repository.mail.fl_str_mv
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