Leo H Wang1,2, Laura M Johnstone3, Michael Bindschadler4, Stephen J Tapscott5, Seth D Friedman6. 1. Department of Neurology, University of Washington, Seattle, Washington, USA. leowang@uw.edu. 2. University of Washington Medical Center, Box 356465, 1959 NE Pacific Street, Seattle, WA, USA. leowang@uw.edu. 3. Department of Rehabilitative Medicine, University of Washington, Seattle, Washington, USA. 4. Radiology Clinical Research Imaging Core/Neurology, Seattle Children's Hospital, Seattle, Washington, USA. 5. Human Biology Division, Fred Hutchinson Research Center, Seattle, Washington, USA. 6. Radiology Clinical Research Imaging Core/Improvement and Innovation, Seattle Children's Hospital, Seattle, Washington, USA.
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.
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.
Entities:
Keywords:
All neuromuscular disease; Case report; Facioscapulohumeral muscular dystrophy (FSHD); Muscle disease; Outcome measures
Authors: Leo H Wang; Seth D Friedman; Dennis Shaw; Lauren Snider; Chao-Jen Wong; Chris B Budech; Sandra L Poliachik; Nancy E Gove; Leann M Lewis; Amy E Campbell; Richard J F L Lemmers; Silvère M Maarel; Stephen J Tapscott; Rabi N Tawil Journal: Hum Mol Genet Date: 2019-02-01 Impact factor: 6.150
Authors: Mark R Ferguson; Sandra L Poliachik; Christopher B Budech; Nancy E Gove; Gregory T Carter; Leo H Wang; Daniel G Miller; Dennis W W Shaw; Seth D Friedman Journal: Muscle Nerve Date: 2018-03-03 Impact factor: 3.217
Authors: Julia R Dahlqvist; Nanna S Poulsen; Sofie T Østergaard; Freja Fornander; Josefine de Stricker Borch; Else R Danielsen; Carsten Thomsen; John Vissing Journal: Neurology Date: 2020-07-01 Impact factor: 9.910
Authors: Barbara H Janssen; Nicoline B M Voet; Christine I Nabuurs; Hermien E Kan; Jacky W J de Rooy; Alexander C Geurts; George W Padberg; Baziel G M van Engelen; Arend Heerschap Journal: PLoS One Date: 2014-01-14 Impact factor: 3.240