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MYO-MRI diagnostic protocols in genetic myopathies

Lookup NU author(s): Professor Jordi Diaz ManeraORCiD, Professor Giorgio TascaORCiD, Professor Volker StraubORCiD


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© 2019 Elsevier B.V. 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.

Publication metadata

Author(s): Chardon JW, Diaz-Manera J, Tasca G, Bonnemann CG, Gomez-Andres D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Torron RF, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY

Publication type: Review

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2019

Volume: 29

Issue: 11

Pages: 827-841

Print publication date: 01/11/2019

Online publication date: 16/09/2019

Acceptance date: 21/08/2019

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd


DOI: 10.1016/j.nmd.2019.08.011

PubMed id: 31727541