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Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
Author(s) -
Garibaldi Matteo,
Nicoletti Tommaso,
Bucci Elisabetta,
Fionda Laura,
Leonardi Luca,
Morino Stefania,
Tufano Laura,
Alfieri Girolamo,
Lauletta Antonio,
Merlonghi Gioia,
Perna Alessia,
Rossi Salvatore,
Ricci Enzo,
Alonso Perez Jorge,
Tartaglione Tommaso,
Petrucci Antonio,
Pennisi Elena Maria,
Salvetti Marco,
Cutter Gary,
DíazManera Jordi,
Silvestri Gabriella,
Antonini Giovanni
Publication year - 2022
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.15174
Subject(s) - medicine , magnetic resonance imaging , myotonic dystrophy , muscle weakness , muscle atrophy , atrophy , asymptomatic , wasting , muscular dystrophy , sarcopenia , pathology , radiology
Abstract 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.