MRI in Muscle Dystrophies and Primary Myopathies

Part of the Medical Radiology book series (MEDRAD)


In the recent past substantial progress in the genetic assessment and the availability of advanced immuno-histochemical staining techniques formed the beginning of a new era in characterization and classification of inherited muscle disorders. This was even more so since the introduction of imaging—and especially MRI—into routine diagnostic workup and research in inherited muscle disease. Muscle MRI can not only detect or exclude dystrophic changes but makes the extent and severity of muscle involvement visible and measurable. Recent research focuses on patterns of muscle pathology on whole body MRI. The detection of these patterns has widened the differential diagnosis of inherited muscle diseases even leading to the discovery of new disease entities in combination with genetic testing. The first part of this chapter gives an outline on the current neuromuscular MRI methods and their application for diagnosis and research in inherited muscular disease. In the second part we show how muscle MRI—especially due to newly detected involvement patterns—can lead to diagnostic algorithms as a guidance for diagnosis and differential diagnosis in hereditary myopathies.


Muscular Dystrophy Soleus Muscle Fatty Degeneration Vastus Intermedius Congenital Myopathy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Computed tomography


Becker muscular dystrophy


Myotonic dystrophy type I


Duchenne muscular dystrophy


Facio-scapulo-humeral MD


Limb girdle muscular dystrophy


Muscular dystrophy


Magnetic resonance imaging


Oculo-pharyngeal MD


Signal-to-noise ratio


Short tau inversion recovery






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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  1. 1.Department of NeurologyUniversity Hospital of BaselBaselSwitzerland
  2. 2.Division of NeuropediatricsUniversity Children’s Hospital of BaselBaselSwitzerland
  3. 3.Department of Radiology and Nuclear MedicineVU University Medical CenterAmsterdamThe Netherlands

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