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Quantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1
Journal article   Peer reviewed

Quantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1

Ellen van der Plas, Laurie Gutmann, Dan Thedens, Richard K Shields, Kathleen Langbehn, Zhihui Guo, Milan Sonka and Peggy Nopoulos
Muscle & nerve, Vol.63(4), pp.553-562
04/2021
DOI: 10.1002/mus.27174
PMCID: PMC8442354
PMID: 33462896
url
https://scholarworks.indianapolis.iu.edu/bitstreams/a37c9c42-a275-46a2-b150-247cfffd5ff8/downloadView
Open Access

Abstract

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. 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. 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). 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.
Prospective Studies Myotonic Dystrophy - diagnosis Humans Middle Aged Biomarkers - analysis Magnetic Resonance Imaging - methods Male Young Adult Myotonic Dystrophy - pathology Myotonic Dystrophy - physiopathology Leg - pathology Muscle, Skeletal - physiopathology Adolescent Adult Female Aged Leg - physiopathology Muscle, Skeletal - pathology Longitudinal Studies

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