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
Green Published
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