MYO-MRI diagnostic protocols in genetic myopathies

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

15 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)827-841
Numero di pagine15
RivistaNeuromuscular Disorders
Volume29
DOI
Stato di pubblicazionePubblicato - 2019

Keywords

  • Congenital myopathy
  • Inflammatory myopathy
  • Inherited myopathy
  • Limb girdle muscular dystrophy
  • Magnetic resonance imaging
  • Whole-body MRI

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