MYO-MRI diagnostic protocols in genetic myopathies

Jodi Warman Chardon¹, Jordi Díaz-Manera², Giorgio Tasca³, Carsten G Bönnemann⁴, David Gómez-Andrés⁵, Arend Heerschap⁶, Eugenio Mercuri⁷, Francesco Muntoni⁸, Anna Pichiecchio⁹, Enzo Ricci¹⁰, Maggie C Walter¹¹, Michael Hanna¹², Heinz Jungbluth¹³, Jasper M Morrow¹⁴, Roberto Fernández-Torrón¹⁵, Bjarne Udd¹⁶, John Vissing¹⁷, Tarek Yousry¹⁸, Susana Quijano-Roy¹⁹, Volker Straub²⁰, Robert Y Carlier²¹; MYO-MRI Working Group

Affiliations

¹ Neuromuscular Centre. The Ottawa Hospital, Canada; Neurogenetics Children's Hospital of Eastern Ontario, Canada.
² Neuromuscular Disorders Unit, Neurology department, Hospital Universitari de la Santa Creu i Sant Pau, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.
³ Neurology, Fondazione Policlinico A. Gemelli IRCSS, Italy.
⁴ National Institute of Neurological Disorders and Stroke, National Institute of Health, United States.
⁵ Pediatric Neurology, Hospital Universitari Vall d'Hebron, Spain.
⁶ Department of Radiology, Radboud University Nijmegen Medical Center, the Netherlands.
⁷ Pediatric Neurology, Catholic University, Policlinico Gemelli, Italy; Centro Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
⁸ Paediatric Neurology, Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, UK.
⁹ University of Pavia and Department of Neuroradiology IRCCS Mondino Foundation Pavia, Italy.
¹⁰ Institute of Neurology, Catholic University, Italy.
¹¹ Friedrich-Baur Institut, Dept. of Neurology, Ludwig-Maximilians University Munich, Germany.
¹² Department of Neuromuscular Diseases, University College London, Queen Square Institute of Neurology, UK.
¹³ Paediatric Neurology, King's College London, UK.
¹⁴ Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, UK.
¹⁵ Biodonostia Health Research Institute, Neuromuscular Area, Hospital Donostia, Neurology Department, 20014 Donostia - San Sebastian, Spain.
¹⁶ Neuromuscular Centre, University of Tampere, Finland.
¹⁷ Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
¹⁸ Neuroradiology, University College London, UK.
¹⁹ APHP, Neuromuscular Unit, Department of Pediatric Neurology and Intensive cares, CHU Raymond Poincare (UVSQ), Garches, France.
²⁰ John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, UK.
²¹ Robert-Yves Carlier, Service de Radiologie et Imagerie Médicale Hôpital Raymond Poincaré, Hôpitaux de Paris (AP-HP), Garches, France; Centre de référence des maladies neuro-musculaires Paris-Nord-ESt, Filenemus, France. Electronic address: robert.carlier@aphp.fr.

PMID: 31727541
DOI: 10.1016/j.nmd.2019.08.011

Review

MYO-MRI diagnostic protocols in genetic myopathies

Jodi Warman Chardon et al. Neuromuscul Disord. 2019 Nov.

. 2019 Nov;29(11):827-841.

doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16.

Authors

Affiliations

¹ Neuromuscular Centre. The Ottawa Hospital, Canada; Neurogenetics Children's Hospital of Eastern Ontario, Canada.
² Neuromuscular Disorders Unit, Neurology department, Hospital Universitari de la Santa Creu i Sant Pau, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.
³ Neurology, Fondazione Policlinico A. Gemelli IRCSS, Italy.
⁴ National Institute of Neurological Disorders and Stroke, National Institute of Health, United States.
⁵ Pediatric Neurology, Hospital Universitari Vall d'Hebron, Spain.
⁶ Department of Radiology, Radboud University Nijmegen Medical Center, the Netherlands.
⁷ Pediatric Neurology, Catholic University, Policlinico Gemelli, Italy; Centro Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy.
⁸ Paediatric Neurology, Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, UK.
⁹ University of Pavia and Department of Neuroradiology IRCCS Mondino Foundation Pavia, Italy.
¹⁰ Institute of Neurology, Catholic University, Italy.
¹¹ Friedrich-Baur Institut, Dept. of Neurology, Ludwig-Maximilians University Munich, Germany.
¹² Department of Neuromuscular Diseases, University College London, Queen Square Institute of Neurology, UK.
¹³ Paediatric Neurology, King's College London, UK.
¹⁴ Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, UK.
¹⁵ Biodonostia Health Research Institute, Neuromuscular Area, Hospital Donostia, Neurology Department, 20014 Donostia - San Sebastian, Spain.
¹⁶ Neuromuscular Centre, University of Tampere, Finland.
¹⁷ Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
¹⁸ Neuroradiology, University College London, UK.
¹⁹ APHP, Neuromuscular Unit, Department of Pediatric Neurology and Intensive cares, CHU Raymond Poincare (UVSQ), Garches, France.
²⁰ John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, UK.
²¹ Robert-Yves Carlier, Service de Radiologie et Imagerie Médicale Hôpital Raymond Poincaré, Hôpitaux de Paris (AP-HP), Garches, France; Centre de référence des maladies neuro-musculaires Paris-Nord-ESt, Filenemus, France. Electronic address: robert.carlier@aphp.fr.

PMID: 31727541
DOI: 10.1016/j.nmd.2019.08.011

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.

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MYO-MRI diagnostic protocols in genetic myopathies

Affiliations

MYO-MRI diagnostic protocols in genetic myopathies

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Abstract

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