Upper and Lower Extremities in Duchenne Muscular Dystrophy Evaluated                    with Quantitative MRI and Proton MR Spectroscopy in a Multicenter                    Cohort

Forbes, Sean C.; Arora, Harneet; Willcocks, Rebecca J.; Triplett, William; Rooney, William D.; Barnard, Alison M.; Alabasi, Umar; Wang, Dah Jyuu; Lott, Donovan J.; Senesac, Claudia; Harrington, Ann M.; Finanger, Erika; Tennekoon, Gihan; Brandsema, John F.; Daniels, Michael J.; Sweeney, H. Lee; Walter, Glenn A.; Vandenborne, Krista

doi:10.1148/radiol.2020192210

Cited by 27 publications

(50 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These results align with prior reports of Leung et al [13] which found that hamstring mean fatty infiltrative score by semi-quantitative visual analysis correlated with the 10-m walk test and Mul et al [12] which found a correlation of mean fat fraction of total leg musculature with 6MWT. Similar results have been shown in Duchenne muscular dystrophy with single voxel 1H MR spectroscopy quantification of intramuscular fat fraction in the vastus lateralis correlated with the 6MWT [17,18].…”

Section: Mri Changes and Association With Functional Outcome Measuressupporting

confidence: 86%

See 1 more Smart Citation

Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy

Wang

Shaw

Faino

et al. 2021

BMC Musculoskelet Disord

View full text Add to dashboard Cite

Background Facioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. For MRI to be a useful biomarker in an FSHD clinical trial, it should reliably detect changes over relatively short time-intervals (~ 1 year). We hypothesized that fatty change over the study course would be most likely in muscles already demonstrating disease progression, and that the degree of MRI burden would be correlated with function. Methods We studied 36 patients with FSHD and lower-extremity weakness at baseline. Thirty-two patients returned in our 12-month longitudinal observational study. We analyzed DIXON MRI images of 16 lower-extremity muscles in each patient and compared them to quantitative strength measurement and ambulatory functional outcome measures. Results There was a small shift to higher fat fractions in the summed muscle data for each patient, however individual muscles demonstrated much larger magnitudes of change. The greatest increase in fat fraction was observed in muscles having an intermediate fat replacement at baseline, with minimally (baseline fat fraction < 0.10) or severely (> 0.70) affected muscles less likely to progress. Functional outcome measures did not demonstrate marked change over the interval; however, overall MRI disease burden was correlated with functional outcome measures. Direct comparison of the tibialis anterior (TA) fat fraction and quantitative strength measurement showed a sigmoidal relationship, with steepest drop being when the muscle gets more than ~ 20% fatty replaced. Conclusions Assessing MRI changes in 16 lower-extremity muscles across 1 year demonstrated that those muscles having an intermediate baseline fat fraction were more likely to progress. Ambulatory functional outcome measures are generally related to overall muscle MRI burden but remain unchanged in the short term. Quantitative strength measurement of the TA showed a steep loss of strength when more fatty infiltration is present suggesting that MRI may be preferable for following incremental change or modulation with drug therapy.

show abstract

Section: Mri Changes and Association With Functional Outcome Measuressupporting

confidence: 86%

“…One option for improved and unambiguous muscle/fat fraction measurement could be 1H spectroscopy [ 18 ], though the trade-off is acquisition time and spatial resolution. A further limitation of MRS is the challenge of discriminating similar water components (normal muscle, STIR+).…”

Section: Discussionmentioning

confidence: 99%

Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy

Wang

Shaw

Faino

et al. 2021

BMC Musculoskelet Disord

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 48%

“…Using MSE and EPG analysis, we found T2 values of the myocytic compartment (T2 water ) for EOM to be comparable with the T2 water in healthy skeletal muscle, as measured with MR spectroscopy. [37][38][39] The standard deviation of T2 water between the EOM (4.0, 4.7 and 4.2 ms for healthy controls, MG patients and GO patients, respectively) was higher than previously measured using an EPG model in leg muscles F I G U R E 8 T2 water values of individual extra-ocular muscle of both eyes are shown as mean and standard deviation for healthy controls (HC; green), myasthenia gravis (MG; red) and Graves' orbitopathy (GO; blue) patients. For one HC and one MG patient, only the EOM from one eye is included.…”

Section: Discussionmentioning

confidence: 99%

The feasibility of quantitative MRI of extra‐ocular muscles in myasthenia gravis and Graves' orbitopathy

et al. 2020

View full text Add to dashboard Cite

Although quantitative MRI can be instrumental in the diagnosis and assessment of disease progression in orbital diseases involving the extra‐ocular muscles (EOM), acquisition can be challenging as EOM are small and prone to eye‐motion artefacts. We explored the feasibility of assessing fat fractions (FF), muscle volumes and water T2 (T2 water ) of EOM in healthy controls (HC), myasthenia gravis (MG) and Graves' orbitopathy (GO) patients. FF, EOM volumes and T2 water values were determined in 12 HC (aged 22‐65 years), 11 MG (aged 28‐71 years) and six GO (aged 28‐64 years) patients at 7 T using Dixon and multi‐echo spin‐echo sequences. The EOM were semi‐automatically 3D‐segmented by two independent observers. MANOVA and t‐tests were used to assess differences in FF, T2 water and volume of EOM between groups ( P < .05). Bland–Altman limits of agreement (LoA) were used to assess the reproducibility of segmentations and Dixon scans. The scans were well tolerated by all subjects. The bias in FF between the repeated Dixon scans was −0.7% (LoA: ±2.1%) for the different observers; the bias in FF was −0.3% (LoA: ±2.8%) and 0.03 cm 3 (LoA: ± 0.36 cm 3 ) for volume. Mean FF of EOM in MG (14.1% ± 1.6%) was higher than in HC (10.4% ± 2.5%). Mean muscle volume was higher in both GO (1.2 ± 0.4 cm 3 ) and MG (0.8 ± 0.2 cm 3 ) compared with HC (0.6 ± 0.2 cm 3 ). The average T2 water for all EOM was 24.6 ± 4.0 ms for HC, 24.0 ± 4.7 ms for MG patients and 27.4 ± 4.2 ms for the GO patient. Quantitative MRI at 7 T is feasible for measuring FF and muscle volumes of EOM in HC, MG and GO patients. The measured T2 water was on average comparable with skeletal muscle, although with higher variation between subjects. The increased FF in the EOM in MG patients suggests that EOM involvement in MG is accompanied by fat replacement. The unexpected EOM volume increase in MG may provide novel insights into underlying pathophysiological processes.

show abstract

“…Magnetic resonance imaging (MRI) offers a quantitative, non‐invasive alternative for evaluating a variety of muscles and pathophysiological mechanisms, including muscle atrophy (volume), proxy for degree of edema and inflammation (T2‐relaxometry), and fatty infiltration (three‐point Dixon fat fraction [FF]) 10 . Work in Duchenne muscular dystrophy showed that muscle MRI can be used to monitor change over time, and produces reliable and reproducible results in a multisite setting 11 . Studies in DM1 12 and Becker muscular dystrophy 13 demonstrated that muscle volume, FF, and T2‐relaxometry are promising biomarkers for assessing disease state of skeletal muscles.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

View full text Add to dashboard Cite

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.

show abstract

Upper and Lower Extremities in Duchenne Muscular Dystrophy Evaluated with Quantitative MRI and Proton MR Spectroscopy in a Multicenter Cohort

Cited by 27 publications

References 29 publications

Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy

Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy

The feasibility of quantitative MRI of extra‐ocular muscles in myasthenia gravis and Graves' orbitopathy

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

Contact Info

Product

Resources

About