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Quantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1
Author(s) -
Plas Ellen,
Gutmann Laurie,
Thedens Dan,
Shields Richard K.,
Langbehn Kathleen,
Guo Zhihui,
Sonka Milan,
Nopoulos Peggy
Publication year - 2021
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.27174
Subject(s) - magnetic resonance imaging , myotonic dystrophy , medicine , relaxometry , pathology , myotonia , muscular dystrophy , anatomy , nuclear medicine , radiology , spin echo
Background Quantitative muscle MRI as a sensitive marker of early muscle pathology and disease progression in adult‐onset myotonic dystrophy type 1. The utility of muscle MRI as a marker of muscle pathology and disease progression in adult‐onset myotonic dystrophy type 1 (DM1) was evaluated. Methods This prospective, longitudinal study included 67 observations from 36 DM1 patients (50% female), and 92 observations from 49 healthy adults (49% female). Lower‐leg 3T magnetic resonance imaging (MRI) scans were acquired. Volume and fat fraction (FF) were estimated using a three‐point Dixon method, and T2‐relaxometry was determined using a multi‐echo spin‐echo sequence. Muscles were segmented automatically. Mixed linear models were conducted to determine group differences across muscles and image modality, accounting for age, sex, and repeated observations. Differences in rate of change in volume, T2‐relaxometry, and FF were also determined with mixed linear regression that included a group by elapsed time interaction. Results Compared with healthy adults, DM1 patients exhibited reduced volume of the tibialis anterior, soleus, and gastrocnemius (GAS) (all, P < .05). T2‐relaxometry and FF were increased across all calf muscles in DM1 compared to controls. (all, P < .01). Signs of muscle pathology, including reduced volume, and increased T2‐relaxometry and FF were already noted in DM1 patients who did not exhibit clinical motor symptoms of DM1. As a group, DM1 patients exhibited a more rapid change than did controls in tibialis posterior volume ( P = .05) and GAS T2‐relaxometry ( P = .03) and FF ( P = .06). Conclusions Muscle MRI renders sensitive, early markers of muscle pathology and disease progression in DM1. T2 relaxometry may be particularly sensitive to early muscle changes related to DM1.