Journal of Neurology

, Volume 266, Issue 5, pp 1127–1135 | Cite as

Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy

  • Julia R. DahlqvistEmail author
  • Grete Andersen
  • Tahmina Khawajazada
  • Christoffer Vissing
  • Carsten Thomsen
  • John Vissing
Original Communication



Unlike most muscular dystrophies that progress symmetrically at a constant rate, facioscapulohumeral muscular dystrophy (FSHD) is characterized by stepwise, asymmetric progression of muscle wasting, and weakness. Muscle tissue is progressively replaced by fat; however, its relation to preceding inflammation is unclear. In this longitudinal study of FSHD, we assessed muscle inflammation and fat replacement and their relation quantitatively. We also investigated whether fat replacement in muscle varies along its length.


Forty-five patients with FSHD were evaluated twice, 14 months apart. Using MRI sequences with short TI inversion recovery (STIR), we quantified the degree of STIR hyperintensity in muscles (≥ 2 SD above control intensity). STIR hyperintensities (STIR+) suggest edema or inflammation. We used Dixon MRI to quantify fat content.


Of 370 thigh muscles, 83 were STIR+ at baseline and 103 at follow-up. The highest frequency of STIR+ was seen in muscles with inter-mediate fat content (40–60% fat). The progression of fat replacement was higher in STIR+ muscles (5.0 ± 4.0%) vs. STIR− muscles [2.3 ± 3.3% (P < 0.0001)]. In addition, muscles with severe STIR+ at baseline had a higher fat replacement progression than muscles with milder STIR+ (R = 0.39, P = 0.001). The fat content was higher in the distal part vs. proximal part of most muscles (P < 0.05). However, the progression of the fat replacement was uniform along the length of all the muscles.


Muscles with STIR+, indicating inflammation, have a faster progression of fat replacement than STIR− muscles, and the fat replacement progression correlated with the severity of STIR+.


Facioscapulohumeral muscular dystrophy FSHD MRI STIR Dixon 



Analysis of variance


Facioscapulohumeral muscular dystrophy


Standard deviation


Short TI inversion recovery


STIR hyperintensity


No STIR hyperintensity



The authors thank Poul Henrik Frandsen, radiologist, Department of Diagnostic Radiology, Rigshospitalet, for his helpful advice in setting up the MRI protocol. This study has been funded by the Augustinus foundation.

Author contributions

JRD: conception and design of the study, acquisition and analysis of data, drafting the text, and preparing the figures. GA: conception and design of the study, acquisition of data, and analysis of data. TK: acquisition and analysis of data. CV: acquisition and analysis of data. CT: design of the study and analysis of data. JV: conception and design of the study, design of manuscript, and reviewing.

Compliance with ethical standards

Conflicts of interest

The authors declare that they have no conflict of interest related to this study.


  1. 1.
    Tawil R, van der Maarel SM, Tapscott SJ (2014) Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle 4:12. CrossRefGoogle Scholar
  2. 2.
    Hamel J, Tawil R (2018) Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments. Neurother J Am Soc Exp Neurother. Google Scholar
  3. 3.
    Dahlqvist JR, Vissing CR, Thomsen C, Vissing J (2014) Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy. Neurology 83:1178–1183. CrossRefGoogle Scholar
  4. 4.
    Andersen G, Dahlqvist JR, Vissing CR et al (2017) MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients. J Neurol 264:438–447. CrossRefGoogle Scholar
  5. 5.
    Tasca G, Monforte M, Ottaviani P et al (2016) Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials. Ann Neurol. Google Scholar
  6. 6.
    Ferguson MR, Poliachik SL, Budech CB et al (2018) MRI change metrics of facioscapulohumeral muscular dystrophy: stir and T1. Muscle Nerve 57:905–912. CrossRefGoogle Scholar
  7. 7.
    Wang LH, Friedman SD, Shaw D et al (2018) MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD. Hum Mol Genet. Google Scholar
  8. 8.
    Frisullo G, Frusciante R, Nociti V et al (2011) CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI. J Clin Immunol 31:155–166. CrossRefGoogle Scholar
  9. 9.
    Ma J (2008) Dixon techniques for water and fat imaging. J Magn Reson Imaging JMRI 28:543–558. CrossRefGoogle Scholar
  10. 10.
    Dahlqvist JR, Vissing CR, Hedermann G et al (2017) Fat replacement of paraspinal muscles with aging in healthy adults. Med Sci Sports Exerc 49:595–601. CrossRefGoogle Scholar
  11. 11.
    Janssen BH, Voet NBM, Nabuurs CI et al (2014) Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration. PloS One 9:e85416. CrossRefGoogle Scholar
  12. 12.
    Friedman SD, Poliachik SL, Otto RK et al (2014) Longitudinal features of STIR bright signal in FSHD. Muscle Nerve 49:257–260. CrossRefGoogle Scholar
  13. 13.
    Leung DG, Carrino JA, Wagner KR, Jacobs MA (2015) Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Muscle Nerve 52:512–520. CrossRefGoogle Scholar
  14. 14.
    Lareau-Trudel E, Le Troter A, Ghattas B et al (2015) Muscle quantitative MR imaging and clustering analysis in patients with facioscapulohumeral muscular dystrophy type 1. PloS One 10:e0132717. CrossRefGoogle Scholar
  15. 15.
    Willis TA, Hollingsworth KG, Coombs A et al (2013) Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PloS One 8:e70993. CrossRefGoogle Scholar
  16. 16.
    Kan HE, Scheenen TWJ, Wohlgemuth M et al (2009) Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord NMD 19:357–362. CrossRefGoogle Scholar
  17. 17.
    Tasca G, Pescatori M, Monforte M et al (2012) Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. PloS One 7:e38779. CrossRefGoogle Scholar
  18. 18.
    Carlier PG, Marty B, Scheidegger O et al (2016) Skeletal muscle quantitative nuclear magnetic resonance imaging and spectroscopy as an outcome measure for clinical trials. J Neuromuscul Dis 3:1–28. CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Section 3342, Department of Neurology, Copenhagen Neuromuscular Center, RigshospitaletCopenhagen UniversityCopenhagenDenmark
  2. 2.Department of Radiology, RigshospitaletCopenhagen UniversityCopenhagenDenmark

Personalised recommendations