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Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy

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Abstract

The purpose of this ethics approved trial was to correlate quantitative MRI with functional abilities in both ambulant and non-ambulant Duchenne muscular dystrophy (DMD). Twenty patients with genetically confirmed DMD were recruited. Physical assessment was performed using the motor function measurement (MFM) scale. Axial 3T MRI scans of the thighs were acquired using T1-weighted in- and opposed-phase images (TR = 20 ms, TE1 = 2.45 ms, TE2 = 3.68 ms, flip angle = 15°) to calculate the relative fat fraction according to the two-point Dixon method in the knee extensors, flexors, and adductor muscles. The average MFM was 65.3 % and correlated negatively to age (r 2 = 0.60). Overall mean fat fraction correlated positively to age (r 2 = 0.51–0.64). An average of 5 % increase in mean fat fraction per year was calculated. Mean fat fraction of the quadriceps showed a high negative correlation (r 2 = 0.93) to the D1 (standing position and transfers) component of the MFM. A cutoff for mean fat fraction of 50 % predicted loss of ambulation with a sensitivity of 100 % and a specificity of 91 %. Therefore, quantitative muscle MRI seems to be a promising endpoint for short clinical trials evaluating the effect of newer treatments on the time of loss of ambulation in DMD.

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Abbreviations

DMD:

Duchenne muscular dystrophy

F:

Fat

FF:

Fat fraction

MRI:

Magnetic resonance imaging

MFM:

Motor function measurement

qMRI:

Quantitative magnetic resonance imaging

ROI:

Regions of interest

TE:

Echo time

TR:

Repetition time

W:

Water

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Acknowledgments

D.F. was supported by a grant from the Lorenzo-Piaggio Foundation, Switzerland, and the University Children's Hospital, Basel. The sponsors had no influence on study design, data evaluation or publication. The Department of Radiology is supported by a grant from Bracco (Switzerland). The sponsor played no role in matters of design, collection, analysis, interpretation of data and writing of the report. We would like to thank Anthony Tyndall for his help proofreading the manuscript. We also would like to thank the reviewers, whose comments have improved the quality of the manuscript considerably.

Conflicts of interest

The authors declare that they have no conflict of interest.

Ethical standard

This study has been approved by the appropriate ethics committee and has therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

Author information

Authors and Affiliations

  1. Division of Diagnostic and Interventional Neuroradiology, Department of Radiology, University of Basel Hospital, Petersgraben 4, 4031, Basel, Switzerland

    Arne Fischmann

  2. Department of Neurology, University of Basel Hospital, Petersgraben 4, 4031, Basel, Switzerland

    Patricia Hafner & Dirk Fischer

  3. Division of Radiological Physics, Department of Radiology, University of Basel Hospital, Petersgraben 4, 4031, Basel, Switzerland

    Monika Gloor, Tanja Haas & Oliver Bieri

  4. University of Basel Childrens Hospital, Spitalstrasse 33, 4056, Basel, Switzerland

    Patricia Hafner, Maurice Schmid, Urs Pohlman, Tanja Waltz, Rocio Gonzalez & Dirk Fischer

  5. Department of Paediatric Neurology, University Children’s Hospital Zurich, Steinwiesstrasse 75, 8032, Zürich, Switzerland

    Andrea Klein

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  1. Arne Fischmann
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  2. Patricia Hafner
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  3. Monika Gloor
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  9. Tanja Haas
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  10. Oliver Bieri
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  11. Dirk Fischer
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Corresponding author

Correspondence to Arne Fischmann.

Additional information

P. Hafner and A. Fischmann contributed equally to this work.

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Fischmann, A., Hafner, P., Gloor, M. et al. Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy. J Neurol 260, 969–974 (2013). https://doi.org/10.1007/s00415-012-6733-x

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  • DOI: https://doi.org/10.1007/s00415-012-6733-x

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