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… 

Figures and Tables from this paper

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

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

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

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

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.

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

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

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.

Novel agents in development, including antisense oligonucleotides, gene therapy, and small molecules, hold promise for future meaningful therapies in Facioscapulohumeral muscular dystrophy.

Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials

Current and emerging F SHD outcome measures and the challenges that investigators may experience in applying such measures to FSHD clinical trial design and implementation are discussed.

References

SHOWING 1-10 OF 44 REFERENCES

A Prospective, Quantitative Study of the Natural History of Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder localized to 4q35. Neither the gene nor the gene product has been identified. There is presently no established

Quantitative MRI can detect subclinical disease progression in muscular dystrophy

In this small pilot trial, it was shown that quantitative muscle MRI can detect subclinical changes in patients with OPMD and might be a useful tool for monitoring disease progression in future therapeutic trials.

Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy

Fatty degeneration in whole-body MRI correlates well to clinical muscle testing of the extremities but gives more information on deeper or trunk muscles, and may become an excellent tool for assessment of muscle involvement and follow-up studies.

Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI

It is shown that MRI may disclose muscle involvement in FSHD that is not apparent on manual muscle testing, and suggests that MRI of muscle may be an important assessment tool in clinical trials involving patients with F SHD.

Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1

The qMRI provides a sensitive measurement of fat fraction which should also be of high interest to assess disease progression and any therapeutic strategy in FSHD1 patients.

Whole‐body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy

Advances in MRI technology allow for acquisition of rapid, high‐quality, whole‐body imaging in diffuse muscle disease, and this technique offers a promising disease biomarker in FSHD and other muscle diseases.

Distinct Disease Phases in Muscles of Facioscapulohumeral Dystrophy Patients Identified by MR Detected Fat Infiltration

The results indicate that healthy individual leg muscles become diseased by entering a progressive phase with distal fat infiltration and altered energy metabolite levels, and the intramuscular fat distribution needs to be taken into account in the MR assessment of fat infiltration as biomarker for diseased muscles.

Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy