Top

Journal of Neurology

Published in:

01-05-2019 | Muscular Dystrophy | Original Communication

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

Authors: Julia R. Dahlqvist, Grete Andersen, Tahmina Khawajazada, Christoffer Vissing, Carsten Thomsen, John Vissing

Published in: Journal of Neurology | Issue 5/2019

Abstract

Objective

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.

Methods

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.

Results

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.

Conclusion

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+.

Tawil R, van der Maarel SM, Tapscott SJ (2014) Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle 4:12. https://doi.org/10.1186/2044-5040-4-12 CrossRefPubMedPubMedCentral

Hamel J, Tawil R (2018) Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments. Neurother J Am Soc Exp Neurother. https://doi.org/10.1007/s13311-018-00675-3 CrossRef

Dahlqvist JR, Vissing CR, Thomsen C, Vissing J (2014) Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy. Neurology 83:1178–1183. https://doi.org/10.1212/WNL.0000000000000828 CrossRefPubMed

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. https://doi.org/10.1007/s00415-016-8361-3 CrossRefPubMed

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. https://doi.org/10.1002/ana.24640 CrossRefPubMed

Ferguson MR, Poliachik SL, Budech CB et al (2018) MRI change metrics of facioscapulohumeral muscular dystrophy: stir and T1. Muscle Nerve 57:905–912. https://doi.org/10.1002/mus.26038 CrossRefPubMed

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. https://doi.org/10.1093/hmg/ddy364 CrossRefPubMedPubMedCentral

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. https://doi.org/10.1007/s10875-010-9474-6 CrossRefPubMed

Ma J (2008) Dixon techniques for water and fat imaging. J Magn Reson Imaging JMRI 28:543–558. https://doi.org/10.1002/jmri.21492 CrossRefPubMed

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. https://doi.org/10.1249/MSS.0000000000001119 CrossRef

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. https://doi.org/10.1371/journal.pone.0085416 CrossRefPubMedPubMedCentral

12.

Friedman SD, Poliachik SL, Otto RK et al (2014) Longitudinal features of STIR bright signal in FSHD. Muscle Nerve 49:257–260. https://doi.org/10.1002/mus.23911 CrossRefPubMed

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. https://doi.org/10.1002/mus.24569 CrossRefPubMedPubMedCentral

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. https://doi.org/10.1371/journal.pone.0132717 CrossRefPubMedPubMedCentral

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. https://doi.org/10.1371/journal.pone.0070993 CrossRefPubMedPubMedCentral

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. https://doi.org/10.1016/j.nmd.2009.02.009 CrossRefPubMed

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. https://doi.org/10.1371/journal.pone.0038779 CrossRefPubMedPubMedCentral

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. https://doi.org/10.3233/JND-160145 CrossRefPubMedPubMedCentral

Title: Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy
Authors: Julia R. Dahlqvist
Grete Andersen
Tahmina Khawajazada
Christoffer Vissing
Carsten Thomsen
John Vissing
Publication date: 01-05-2019
Publisher: Springer Berlin Heidelberg
Keywords: Muscular Dystrophy
Muscular Dystrophy
Published in: Journal of Neurology / Issue 5/2019
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-019-09242-y

At a glance: The STEP trials

Springer Medicine

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

Abstract

Objective

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Objective

Methods

Results

Conclusion

Please log in to get access to this content

Other articles of this Issue 5/2019

Frequent central nervous system, pachymeningeal and plexus MRI changes in POEMS syndrome

Crossed aphasia confirmed by fMRI in a case with nonfluent variant of primary progressive aphasia carrying a GRN mutation

Joint impact of seven risk factors on incident dementia in elderly Japanese: the Ohsaki Cohort 2006 Study

Juxtacortical lesions are associated with seizures in cerebral small vessel disease

Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS

Postural control during galvanic vestibular stimulation in patients with persistent perceptual–postural dizziness