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Quantitative MRI can detect subclinical disease progression in muscular dystrophy

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Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a rare autosomal dominant muscular dystrophy with late onset and slow progression. The aim of this study was to compare different methods of quantitative MRI in the follow-up of OPMD to semiquantitative evaluation of MRI images and to functional parameters. We examined 8 patients with genetically confirmed OPMD and 5 healthy volunteers twice at an interval of 13 months. Motor function measurements (MFM) were assessed. Imaging at 1.5 T (Siemens Magnetom Avanto) comprised two axial slice groups at the largest diameter of thigh and calf and included T1w TSE, 2-point Dixon for muscular fat fraction (MFF) and a multi-contrast TSE sequence to calculate quantitative T2 values. T1 images were analyzed using Fischer’s semiquantitative 5-point (0–4) scale. MFM and visual scores showed no significant difference over the study period. Overall T2 values increased in patients over the study period from 49.4 to 51.6 ms, MFF increased from 19.2 to 20.7%. Neither T2 values nor MFF increased in controls. Changes in T2 correlated with the time interval between examinations (r 2 = 0.42). In this small pilot trial, it was shown that quantitative muscle MRI can detect subclinical changes in patients with OPMD. Quantitative MRI might, therefore, be a useful tool for monitoring disease progression in future therapeutic trials.

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Acknowledgments

This study was supported by the Lorenzo Piaggio Foundation, Switzerland. The Institute of Radiology receives an unspecified general grant from Bracco. The sponsor played no role in matters of design, collection, analysis, interpretation of data, and writing the report. The authors would like to thank Tanja Haas for the MRI measurements. We also thank the reviewers for their helpful comments.

Conflicts of interest

The authors declare no conflict of interest.

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Authors and Affiliations

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

    Arne Fischmann

  2. Department of Neurology, University of Basel Hospital, Basel, Switzerland

    Patricia Hafner, Susanne Fasler & Dirk Fischer

  3. Division of Radiological Physics, Institute of Radiology, University of Basel Hospital, Basel, Switzerland

    Monika Gloor & Oliver Bieri

  4. Musculoskeletal Radiology, Institute of Radiology, University of Basel Hospital, Basel, Switzerland

    Ueli Studler

  5. Department of Neuropaediatrics, University of Basel Children’s Hospital, Basel, Switzerland

    Dirk Fischer

Authors
  1. Arne Fischmann
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  2. Patricia Hafner
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  3. Susanne Fasler
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  4. Monika Gloor
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  5. Oliver Bieri
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  6. Ueli Studler
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  7. Dirk Fischer
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Corresponding author

Correspondence to Arne Fischmann.

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Fischmann, A., Hafner, P., Fasler, S. et al. Quantitative MRI can detect subclinical disease progression in muscular dystrophy. J Neurol 259, 1648–1654 (2012). https://doi.org/10.1007/s00415-011-6393-2

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  • DOI: https://doi.org/10.1007/s00415-011-6393-2

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