MYO-MRI diagnostic protocols in genetic myopathies

Jodi Warman Chardon, Jordi Díaz-Manera, Giorgio Tasca, Carsten G Bönnemann, David Gómez-Andrés, Arend Heerschap, Eugenio Mercuri, Francesco Muntoni, Anna Pichiecchio, Enzo Ricci, Maggie C Walter, Michael Hanna, Heinz Jungbluth, Jasper M Morrow, Roberto Fernández Torrón, Bjarne Udd, John Vissing, Tarek Yousry, Susana Quijano-Roy, Volker StraubRobert Y Carlier, MYO-MRI Working Group

45 Citationer (Scopus)

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.

OriginalsprogEngelsk
TidsskriftNeuromuscular disorders : NMD
Vol/bind29
Udgave nummer11
Sider (fra-til)827-841
Antal sider15
ISSN0960-8966
DOI
StatusUdgivet - 2019

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