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Neuromuscul Disord. 2019 Nov;29(11):827-841. doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16.

MYO-MRI diagnostic protocols in genetic myopathies.

Author information

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.

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

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

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