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MRI in Muscle Dystrophies and Primary Myopathies

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Magnetic Resonance Imaging of the Skeletal Musculature

Part of the book series: Medical Radiology ((Med Radiol Diagn Imaging))

Abstract

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.

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Abbreviations

CT:

Computed tomography

BMD:

Becker muscular dystrophy

DM1:

Myotonic dystrophy type I

DMD:

Duchenne muscular dystrophy

FSHD:

Facio-scapulo-humeral MD

LGMD:

Limb girdle muscular dystrophy

MD:

Muscular dystrophy

MRI:

Magnetic resonance imaging

OPMD:

Oculo-pharyngeal MD

SNR:

Signal-to-noise ratio

STIR:

Short tau inversion recovery

T:

Tesla

US:

Ultrasound

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Author information

Authors and Affiliations

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

    Dirk Fischer

  2. Division of Neuropediatrics, University Children’s Hospital of Basel, 4005, Basel, Switzerland

    Dirk Fischer

  3. Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands

    Mike P. Wattjes

Authors
  1. Dirk Fischer
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  2. Mike P. Wattjes
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Correspondence to Dirk Fischer .

Editor information

Editors and Affiliations

  1. Diagnostic and Interventional Radiology, University Hospital Heidelberg, Heidelberg, Baden-Württemberg, Germany

    Marc-André Weber

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Fischer, D., Wattjes, M.P. (2013). MRI in Muscle Dystrophies and Primary Myopathies. In: Weber, MA. (eds) Magnetic Resonance Imaging of the Skeletal Musculature. Medical Radiology(). Springer, Berlin, Heidelberg. https://doi.org/10.1007/174_2013_848

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  • DOI: https://doi.org/10.1007/174_2013_848

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-37218-6

  • Online ISBN: 978-3-642-37219-3

  • eBook Packages: MedicineMedicine (R0)

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