Dystrophic Myopathies

  • Leroy ten DamEmail author
  • Marianne de Visser
Living reference work entry


This chapter of clinical neuroradiology focuses on the use of skeletal muscle imaging in dystrophic myopathies. It will discuss the use of both conventional (computed tomography, magnetic resonance imaging, ultrasound) and advanced muscle radiological techniques (diffusion tensor imaging, MR spectroscopy) to visualize the extent and distribution of muscle tissue damage which can be seen in this group of disorders. Muscle imaging can help to differentiate between different dystrophic myopathies and can be used as an aid for guided muscle biopsy. Indications for imaging will be discussed, and recommendations on systematically visualizing and evaluating the skeletal muscles will be formulated. Standardization of imaging tools is required before they can be used as reliable surrogate biomarkers in natural history studies and in therapeutic trials.


Dystrophic myopathies Muscular dystrophies Skeletal muscle imaging MRI Computed tomography Ultrasound 

List of Abbreviations


Becker muscular dystrophy


Congenital muscular dystrophy


Myotonic dystrophy type 1


Myotonic dystrophy type 2


Duchenne muscular dystrophy


Facioscapulohumeral dystrophy


Limb-girdle muscular dystrophy


Miyoshi distal myopathy


Oculopharyngeal muscular dystrophy


Tibial muscular dystrophy/Udd myopathy


Ullrich congenital muscular dystrophy


Welander distal myopathy



We would like to thank Prof. E. Aronica, Dr. W.C.G. Plandsoen, Dr. C. Verhamme and Dr. A.J. van der for providing figures 2, 6, 7 and 11.


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Suggested Reading

  1. Bönnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24(4):289–311.CrossRefPubMedPubMedCentralGoogle Scholar
  2. Burakiewicz J, Sinclair CDJ, Fischer D, et al. Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy. J Neurol. 2017;264:2053–67.CrossRefPubMedPubMedCentralGoogle Scholar
  3. Fischer D, Bonati U, Wattjes MP. Recent developments in muscle imaging of neuromuscular disorders. Curr Opin Neurol. 2016;29(5):614–20.CrossRefPubMedGoogle Scholar
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  10. Udd B. Distal myopathies. Curr Neurol Neurosci Rep. 2014;14(3):434.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of NeurologyAcademic Medical Centre, University of AmsterdamAmsterdamThe Netherlands

Section editors and affiliations

  • Mike Wattjes
    • 1
  1. 1.VUMCAmsterdamThe Netherlands

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