Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study
@article{Fatehi2017LongtermFO, title={Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study}, author={Farzad Fatehi and Emmanuelle Salort-Campana and Arnaud Le Troter and {\'E}milie Lareau-Trudel and Mark Bydder and Alexandre Four{\'e} and Maxime Guye and David Bendahan and Shahram Attarian}, journal={PLoS ONE}, year={2017}, volume={12} }
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary muscular disorders. Currently FSHD has no known effective treatment and detailed data on the natural history are lacking. Determination of the efficacy of a given therapeutic approach might be difficult in FSHD given the slow and highly variable disease progression. Magnetic resonance imaging (MRI) has been widely used to qualitatively and quantitatively evaluate in vivo the muscle alterations in various…
32 Citations
Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy
- Medicine, PsychologyBMC Musculoskeletal Disorders
- 2021
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, suggesting that MRI may be preferable for following incremental change or modulation with drug therapy.
Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report
- MedicineBMC Musculoskeletal Disorders
- 2021
It is found that STIR might not be a dynamic marker for suppressing inflammation in FSHD, and immunosuppressive therapy in refractive autoimmune myopathy in other contexts has been shown to reverse STIR signal hyperintensity.
Magnetic resonance imaging in facioscapulohumeral muscular dystrophy
- MedicineMuscle & nerve
- 2018
Findings related to changes in fat infiltration and intramuscular edema in a cohort of patients with FSHD are reported, representing a significant next step in pathophysiologic discovery and clinical trial preparedness in F SHD.
A 5-year clinical follow-up study from the Italian National Registry for FSHD
- MedicineJournal of Neurology
- 2020
The progression of disease is different between index cases and carrier relatives and the assessment of the CCEF categories has strong prognostic effect in FSHD1 patients.
A Quantitative muscle MRI Study of Patients with Sporadic Inclusion Body Myositis.
- MedicineMuscle & nerve
- 2020
Fat infiltration in individual muscles of sIBM patients is heterogeneous in terms of proximal-to-distal gradient and severity was correlated with clinical scores, and should be considered for both natural history investigation and clinical trials.
Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy
- Medicine, BiologyNeurology
- 2020
Both quantitative and qualitative MUS correlate cross-sectionally with clinical severity in FSHD and identify structural muscle changes in a clinically stable group of patients and seems a potentially responsive biomarker that could be standardized between centers.
Whole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy
- MedicineCommunications Medicine
- 2022
The findings identify the distal end of leg muscles as a prime location for disease initiation in FSHD and demonstrate a wave-like progression towards the proximal end, consistent with proposed disease mechanisms.
Facioscapulohumeral Muscular Dystrophies.
- Medicine, BiologyContinuum
- 2019
Novel agents in development, including antisense oligonucleotides, gene therapy, and small molecules, hold promise for future meaningful therapies in Facioscapulohumeral muscular dystrophy.
Facioscapulohumeral Muscular Dystrophy
- Medicine, BiologyContinuum
- 2022
Progress in the understanding of the disease mechanism has shifted the field of FSHD toward targeted therapy development, and the cornerstones of the diagnosis are clinical observation and genetic testing.
Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern
- MedicineNeuromuscular Disorders
- 2021
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