Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. MRI short tau inversion recovery (STIR) sequences of patient muscles often show increased hyperintensity that is hypothesized to be associated with inflammation. This is s...
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doaj-519fc0c87b7045eaa80ac1ba077301ff2021-01-10T12:27:16ZengBMCBMC Musculoskeletal Disorders1471-24742021-01-012211710.1186/s12891-020-03910-1Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case reportLeo H. Wang0Laura M. Johnstone1Michael Bindschadler2Stephen J. Tapscott3Seth D. Friedman4Department of Neurology, University of WashingtonDepartment of Rehabilitative Medicine, University of WashingtonRadiology Clinical Research Imaging Core/Neurology, Seattle Children’s HospitalHuman Biology Division, Fred Hutchinson Research CenterRadiology Clinical Research Imaging Core/Improvement and Innovation, Seattle Children’s HospitalAbstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. MRI short tau inversion recovery (STIR) sequences of patient muscles often show increased hyperintensity that is hypothesized to be associated with inflammation. This is supported by the presence of inflammatory changes on biopsies of STIR-positive muscles. We hypothesized that the STIR positivity would normalize with targeted immunosuppressive therapy. Case presentation 45-year-old male with FSHD type 1 was treated with 12 weeks of immunosuppressive therapy, tacrolimus and prednisone. Tacrolimus was treated to a goal serum trough of > 5 ng/mL and prednisone was tapered every month. Quantitative strength exam, functional outcome measures, and muscle MRI were performed at baseline, week 6, and week 12. The patient reported subjective worsening as reflected in quantitative strength exam. The MRI STIR signal was slightly increased from 0.02 to 0.03 of total muscle; while the T1 fat fraction was stable. Functional outcome measures also were stable. Conclusions Immunosuppressive therapy in refractive autoimmune myopathy in other contexts has been shown to reverse STIR signal hyperintensity, however this treatment did not reverse STIR signal in this patient with FSHD. In fact, STIR signal slightly increased throughout the treatment period. This is the first study of using MRI STIR and T1 fat fraction to follow treatment effect in FSHD. We find that STIR might not be a dynamic marker for suppressing inflammation in FSHD.https://doi.org/10.1186/s12891-020-03910-1All neuromuscular diseaseMuscle diseaseFacioscapulohumeral muscular dystrophy (FSHD)Outcome measuresCase report |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Leo H. Wang Laura M. Johnstone Michael Bindschadler Stephen J. Tapscott Seth D. Friedman |
spellingShingle |
Leo H. Wang Laura M. Johnstone Michael Bindschadler Stephen J. Tapscott Seth D. Friedman Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report BMC Musculoskeletal Disorders All neuromuscular disease Muscle disease Facioscapulohumeral muscular dystrophy (FSHD) Outcome measures Case report |
author_facet |
Leo H. Wang Laura M. Johnstone Michael Bindschadler Stephen J. Tapscott Seth D. Friedman |
author_sort |
Leo H. Wang |
title |
Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report |
title_short |
Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report |
title_full |
Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report |
title_fullStr |
Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report |
title_full_unstemmed |
Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report |
title_sort |
adapting mri as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report |
publisher |
BMC |
series |
BMC Musculoskeletal Disorders |
issn |
1471-2474 |
publishDate |
2021-01-01 |
description |
Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. MRI short tau inversion recovery (STIR) sequences of patient muscles often show increased hyperintensity that is hypothesized to be associated with inflammation. This is supported by the presence of inflammatory changes on biopsies of STIR-positive muscles. We hypothesized that the STIR positivity would normalize with targeted immunosuppressive therapy. Case presentation 45-year-old male with FSHD type 1 was treated with 12 weeks of immunosuppressive therapy, tacrolimus and prednisone. Tacrolimus was treated to a goal serum trough of > 5 ng/mL and prednisone was tapered every month. Quantitative strength exam, functional outcome measures, and muscle MRI were performed at baseline, week 6, and week 12. The patient reported subjective worsening as reflected in quantitative strength exam. The MRI STIR signal was slightly increased from 0.02 to 0.03 of total muscle; while the T1 fat fraction was stable. Functional outcome measures also were stable. Conclusions Immunosuppressive therapy in refractive autoimmune myopathy in other contexts has been shown to reverse STIR signal hyperintensity, however this treatment did not reverse STIR signal in this patient with FSHD. In fact, STIR signal slightly increased throughout the treatment period. This is the first study of using MRI STIR and T1 fat fraction to follow treatment effect in FSHD. We find that STIR might not be a dynamic marker for suppressing inflammation in FSHD. |
topic |
All neuromuscular disease Muscle disease Facioscapulohumeral muscular dystrophy (FSHD) Outcome measures Case report |
url |
https://doi.org/10.1186/s12891-020-03910-1 |
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