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 Straub; Robert Y Carlier

doi:10.1016/j.nmd.2019.08.011

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

Risultato della ricerca: Contributo in rivista › Articolo 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 originale	English
pagine (da-a)	827-841
Numero di pagine	15
Rivista	Neuromuscular Disorders
Volume	29
DOI	https://doi.org/10.1016/j.nmd.2019.08.011
Stato di pubblicazione	Pubblicato - 2019

Keywords

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

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10.1016/j.nmd.2019.08.011

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Chardon, J. W., Díaz-Manera, J., Tasca, G., Bönnemann, C. G., Gómez-Andrés, D., Heerschap, A., Mercuri, E., Muntoni, F., Pichiecchio, A., Ricci, E., Walter, M. C., Hanna, M., Jungbluth, H., Morrow, J. M., Torrón, R. F., Udd, B., Vissing, J., Yousry, T., Quijano-Roy, S., ... Carlier, R. Y. (2019). MYO-MRI diagnostic protocols in genetic myopathies. Neuromuscular Disorders, 29, 827-841. https://doi.org/10.1016/j.nmd.2019.08.011

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title = "MYO-MRI diagnostic protocols in genetic myopathies",

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

author = "Chardon, {Jodi Warman} and Jordi D{\'i}az-Manera and Giorgio Tasca and B{\"o}nnemann, {Carsten G.} and David G{\'o}mez-Andr{\'e}s and Arend Heerschap and Eugenio Mercuri and Francesco Muntoni and Anna Pichiecchio and Enzo Ricci and Walter, {Maggie C.} and Michael Hanna and Heinz Jungbluth and Morrow, {Jasper M.} and Torr{\'o}n, {Roberto Fern{\'a}ndez} and Bjarne Udd and John Vissing and Tarek Yousry and Susana Quijano-Roy and Volker Straub and Carlier, {Robert Y}",

year = "2019",

doi = "10.1016/j.nmd.2019.08.011",

language = "English",

volume = "29",

pages = "827--841",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010",

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Chardon, JW, Díaz-Manera, J, Tasca, G, Bönnemann, CG, Gómez-Andrés, D, Heerschap, A, Mercuri, E, Muntoni, F, Pichiecchio, A, Ricci, E, Walter, MC, Hanna, M, Jungbluth, H, Morrow, JM, Torrón, RF, Udd, B, Vissing, J, Yousry, T, Quijano-Roy, S, Straub, V & Carlier, RY 2019, 'MYO-MRI diagnostic protocols in genetic myopathies', Neuromuscular Disorders, vol. 29, pagg. 827-841. https://doi.org/10.1016/j.nmd.2019.08.011

TY - JOUR

T1 - MYO-MRI diagnostic protocols in genetic myopathies

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

Y1 - 2019

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

KW - Congenital myopathy

KW - Inflammatory myopathy

KW - Inherited myopathy

KW - Limb girdle muscular dystrophy

KW - Magnetic resonance imaging

KW - Whole-body MRI

UR - http://hdl.handle.net/10807/147344

UR - http://www.elsevier.com/locate/nmd

U2 - 10.1016/j.nmd.2019.08.011

DO - 10.1016/j.nmd.2019.08.011

M3 - Article

SN - 0960-8966

VL - 29

SP - 827

EP - 841

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

ER -

MYO-MRI diagnostic protocols in genetic myopathies

Abstract

Keywords

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