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MYO-MRI diagnostic protocols in genetic myopathies
Authors: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  Robert Y Carlier
Affiliation:1. Neuromuscular Centre. The Ottawa Hospital, Canada;2. Neurogenetics Children''s Hospital of Eastern Ontario, Canada;3. Neuromuscular Disorders Unit, Neurology department, Hospital Universitari de la Santa Creu i Sant Pau, Spain;4. Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain;5. Neurology, Fondazione Policlinico A. Gemelli IRCSS, Italy;6. National Institute of Neurological Disorders and Stroke, National Institute of Health, United States;7. Pediatric Neurology, Hospital Universitari Vall d''Hebron, Spain;8. Department of Radiology, Radboud University Nijmegen Medical Center, the Netherlands;9. Pediatric Neurology, Catholic University, Policlinico Gemelli, Italy;10. Centro Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy;11. Paediatric Neurology, Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, UK;12. University of Pavia and Department of Neuroradiology IRCCS Mondino Foundation Pavia, Italy;13. Institute of Neurology, Catholic University, Italy;14. Friedrich-Baur Institut, Dept. of Neurology, Ludwig-Maximilians University Munich, Germany;15. Department of Neuromuscular Diseases, University College London, Queen Square Institute of Neurology, UK;p. Paediatric Neurology, King''s College London, UK;q. Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, UK;r. Biodonostia Health Research Institute, Neuromuscular Area, Hospital Donostia, Neurology Department, 20014 Donostia - San Sebastian, Spain;s. Neuromuscular Centre, University of Tampere, Finland;t. Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark;u. Neuroradiology, University College London, UK;v. APHP, Neuromuscular Unit, Department of Pediatric Neurology and Intensive cares, CHU Raymond Poincare (UVSQ), Garches, France;w. John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, UK;x. Robert-Yves Carlier, Service de Radiologie et Imagerie Médicale Hôpital Raymond Poincaré, Hôpitaux de Paris (AP-HP), Garches, France;y. Centre de référence des maladies neuro-musculaires Paris-Nord-ESt, Filenemus, France
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:Corresponding author.  Magnetic resonance imaging  Whole-body MRI  Inherited myopathy  Limb girdle muscular dystrophy  Congenital myopathy  Inflammatory myopathy
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