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MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients

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Abstract

There is no effective treatment available for facioscapulohumeral muscular dystrophy type 1 (FSHD1), but emerging therapies are under way that call for a better understanding of natural history in this condition. In this prospective, longitudinal study, we used quantitative MRI to assess yearly disease progression in patients with FSHD1. Ambulatory patients with confirmed diagnosis of FSHD1 (25/20 men/women, age 20–75 years, FSHD score: 0–12) were tested with 359–560-day interval between tests. Using the MRI Dixon technique, muscle fat replacement was evaluated in paraspinal, thigh, and calf muscles. Changes were compared with those in FSHD score, muscle strength (hand-held dynamometry), 6-minute-walk-distance, 14-step-stair-test, and 5-time-sit-to-stand-test. Composite absolute fat fraction of all assessed muscles increased by 0.036 (CI 0.026–0.046, P < 0.001), with increases in all measured muscle groups. The clinical severity FSHD score worsened (10%, P < 0.05), muscle strength decreased over the hip (8%), neck (8%), and back (17%) (P < 0.05), but other strength measures, 6-minute-walk-distance, 5-times-sit-to-stand-test, and 14-step-stair-test were unchanged. Changes in muscle strength, FSHD score, and fat fraction did not correlate. This first study to systemically monitor quantitative fat replacement longitudinally in FSHD1 shows that MRI provides an objective measure of disease progression, often before changes can be appreciated in strength and functional tests. The study indicates that quantitative MRI can be a helpful end-point in follow-up and therapeutic trials of patients with FSHD1.

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Acknowledgements

We thank Poul Henrik Frandsen, radiologist, Department of Diagnostic Radiology, Rigshospitalet, for his helpful advice setting up the MRI-protocol.

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Authors and Affiliations

  1. Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet 3342, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark

    Grete Andersen, Julia R. Dahlqvist, Christoffer R. Vissing, Karen Heje & John Vissing

  2. Department of Radiology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

    Carsten Thomsen

Authors
  1. Grete Andersen
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  2. Julia R. Dahlqvist
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  3. Christoffer R. Vissing
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  4. Karen Heje
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  5. Carsten Thomsen
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  6. John Vissing
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Corresponding author

Correspondence to Grete Andersen.

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Study funding

The study was conducted using the hospital facilities without external financial or material support.

Conflicts of interest

Dr. J Vissing has received research and travel support and speaker honoraria from Genzyme/Sanofi and Ultragenyx Pharmaceuticals and served as consultant on advisory boards of Genzyme/Sanofi, Lundbeck, Ultragenyx Pharmaceuticals, NOVO Nordisk, and Alexion Pharmaceuticals. Dr. G Andersen, Dr. JR Dahlqvist, Dr. CR Vissing, Dr. K Heje, and Dr. C Thomsen report no disclosures.

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Andersen, G., Dahlqvist, J.R., Vissing, C.R. et al. MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients. J Neurol 264, 438–447 (2017). https://doi.org/10.1007/s00415-016-8361-3

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

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