MYO-MRI diagnostic protocols in genetic myopathies


Por: 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, Fernandez-Torron, R, Udd, B, Vissing, J, Yousry, T, Quijano-Roy, S, Straub, V, Carlier, RY, MYO-MRI Working Grp

Publicada: 1 nov 2019
Resumen:
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. (C) 2019 Elsevier B.V. All rights reserved.

Filiaciones:
Chardon, JW:
 Ottawa Hosp, Neuromuscular Ctr, Ottawa, ON, Canada

 Childrens Hosp Eastern Ontario, Neurogenet, Ottawa, ON, Canada

Diaz-Manera, J:
 Hosp Univ Santa Creu & St Pau, Neurol Dept, Neuromuscular Disorders Unit, Barcelona, Spain

 Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain

Tasca, G:
 Fdn Policlin A Gemelli IRCSS, Neurol, Neurology, Italy

Bonnemann, CG:
 NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

Gomez-Andres, D:
 Hosp Univ Vall dHebron, Pediat Neurol, Barcelona, Spain

Heerschap, A:
 Radboud Univ Nijmegen, Dept Radiol, Med Ctr, Nijmegen, Netherlands

Mercuri, E:
 Catholic Univ, Policlin Gemelli, Pediat Neurol, Rome, Italy

 Fdn Policlin Univ Agostino Gemelli IRCSS, Ctr Nemo, Rome, Italy

Muntoni, F:
 UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, Paediat Neurol, London, England

 Great Ormond St Hosp Sick Children, London, England

Pichiecchio, A:
 Univ Pavia, Pavia, Italy

 IRCCS Mondino Fdn Pavia, Dept Neuroradiol, Pavia, Italy

Ricci, E:
 Catholic Univ, Inst Neurol, Milan, Italy

Walter, MC:
 Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, Munich, Germany

Hanna, M:
 UCL, Dept Neuromuscular Dis, Queen Sq Inst Neurol, London, England

Jungbluth, H:
 Kings Coll London, Paediat Neurol, London, England

Morrow, JM:
 UCL, Dept Neuromuscular Dis, Queen Sq Inst Neurol, London, England

Fernandez-Torron, R:
 Hosp Donostia, Biodonostia Hlth Res Inst, Neurol Dept, Neuromuscular Area, Donostia San Sebastian 20014, Spain

Udd, B:
 Univ Tampere, Neuromuscular Ctr, Tampere, Finland

Vissing, J:
 Univ Copenhagen, Rigshosp, Copenhagen Neuromuscular Ctr, Dept Neurol, Copenhagen, Denmark

Yousry, T:
 UCL, Neuroradiol, London, England

Quijano-Roy, S:
 CHU Raymond Poincare UVSQ, AP HP, Neuromuscular Unit, Dept Pediat Neurol & Intens Cares, Garches, France

Straub, V:
 Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England

Carlier, RY:
 Hop Paris, Hop Raymond Poincare, AP HP, Robert Yves Cartier Serv Radiol & Imagerie Med, Garches, France

 Ctr Reference Malad Neuromusculaires Paris Nord E, Filenemus, France
ISSN: 09608966





NEUROMUSCULAR DISORDERS
Editorial
PERGAMON-ELSEVIER SCIENCE LTD, THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND, Estados Unidos America
Tipo de documento: Review
Volumen: 29 Número: 11
Páginas: 827-841
WOS Id: 000503318800002
ID de PubMed: 31727541
imagen Green Published

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