TY - JOUR
T1 - MYO-MRI diagnostic protocols in genetic myopathies
AU - MYO-MRI Working Group
AU - Chardon, Jodi Warman
AU - Díaz-Manera, Jordi
AU - Tasca, Giorgio
AU - Bönnemann, Carsten G.
AU - Gómez-Andrés, David
AU - Heerschap, Arend
AU - Mercuri, Eugenio
AU - Muntoni, Francesco
AU - Pichiecchio, Anna
AU - Ricci, Enzo
AU - Walter, Maggie C.
AU - Hanna, Michael
AU - Jungbluth, Heinz
AU - Morrow, Jasper M.
AU - Torrón, Roberto Fernández
AU - Udd, Bjarne
AU - Vissing, John
AU - Yousry, Tarek
AU - Quijano-Roy, Susana
AU - Straub, Volker
AU - Carlier, Robert Y.
PY - 2019/11/1
Y1 - 2019/11/1
N2 - 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.
AB - 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.
KW - Congenital myopathy
KW - Inflammatory myopathy
KW - Inherited myopathy
KW - Limb girdle muscular dystrophy
KW - Magnetic resonance imaging
KW - Whole-body MRI
UR - http://www.scopus.com/inward/record.url?scp=85075535994&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2019.08.011
DO - 10.1016/j.nmd.2019.08.011
M3 - Review article
C2 - 31727541
AN - SCOPUS:85075535994
SN - 0960-8966
VL - 29
SP - 827
EP - 841
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 11
ER -