MYO-MRI diagnostic protocols in genetic myopathies

Neuromuscul Disord. 2019 Nov;29(11):827-841. doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16.

Abstract

Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies. Whole-body MRI indications and diagnostic efficacy are becoming better defined with the increasing number of cases, publications and discussions within multidisciplinary working groups. Advanced Whole-body MRI protocols are rapid, lower cost, and well-tolerated by patients. Accurate interpretation of muscle Whole-body MRI requires a detailed knowledge of muscle anatomy and differential pattern of involvement in muscle diseases. With the surge in recently identified novel genetic myopathies, Whole-body MRI will become increasingly useful for phenotypic validation of genetic variants of unknown significance. In addition, Whole-body MRI will be progressively used as a biomarker for disease progression and quantify response to therapy with the emergence of novel disease modifying treatments. This review outlines Whole-body MRI indications and updates refined protocols and provides a comprehensive overview of the diagnostic utility and suggested methodology of Whole-body MRI for pediatric and adult patients with muscle diseases.

Keywords: Congenital myopathy; Inflammatory myopathy; Inherited myopathy; Limb girdle muscular dystrophy; Magnetic resonance imaging; Whole-body MRI.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Magnetic Resonance Imaging / methods*
  • Muscular Diseases / diagnostic imaging*
  • Muscular Diseases / genetics*
  • Whole Body Imaging / methods*