OBJECTIVES: To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. METHODS: Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well. RESULTS: Scans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of vasti muscles was a consistent finding in these patients, including the most severe ones. CONCLUSIONS: Muscle involvement on MRI is consistent in patients with LGMD2C-F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.

Assistance Publique des Hôpitaux de Paris Centre de Référence Neuromusculaire GNMH FILNEMUS France

Center of Translational Myology and Neurodegenerative Diseases Istituto Giannina Gaslini Genova Italy

Child Neurology and Psychiatry Unit National Neurological Institute C Mondino Pavia Italy

Copenhagen Neuromuscular Center Rigshospitalet University of Copenhagen Copenhagen Denmark

Department of Neurology Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen The Netherlands

Department of Neurology Neuromuscular Disorders Unit Universitat Autonoma de Barcelona Hospital de la Santa Creu 1 Sant Pau Barcelona Spain

Department of Neurology Neuromuscular Research Center Tampere University and University Hospital Rome Italy

Department of Neurology Vaasa Central Hospital Vaasa Finland

Department of Neuroradiology National Neurological Institute C Mondino Pavia Italy

Department of Neuroscience University of Padova Padova Italy

Department of Paediatric Neurology 2nd Faculty of Medicine Charles University Prague and University Hospital Motol Prague Czech Republic

Department of Pediatric Neurology Hospital Universitari Vall d'Hebron Barcelona Spain

Department of Radiology Hospital Universitari Vall d'Hebron Barcelona Spain

Department of Radiology Neurolocomotor Division Raymond Poincaré Hospital University Hospitals Paris Ile de France West Public Hospital Network of Paris Garches France

Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health London UK

Folkhälsan Institute of Genetics and the Department of Medical Genetics University of Helsinki Helsinki Finland

Friedrich Baur Institute Department of Neurology Ludwig Maximilians University of Munich Munich Germany

Istituto di Neurologia Università Cattolica del Sacro Cuore Fondazione Policlinico Universitario 'A Gemelli' Rome Italy

Muscular and Neurodegenerative Disease Centro de Investigación Biomédica en Red en Enfermedades Raras Barcelona Spain

National Institute of Neurological Disorders and Stroke NIH Bethesda Maryland USA

Neuropsichiatria Infantile Università Cattolica del Sacro Cuore Rome Italy

Radiology Unit Istituto Giannina Gaslini Genova Italy

Russian Children Neuromuscular Center Veltischev Scientific Research Clinical Institute of Pediatrics Pirogov Russian National Research Medical University Moscow Russia

Servizio di Diagnostica per Immagini Centro Diagnostico Italiano Milan Italy

The John Walton Muscular Dystrophy Research Centre Institute of Genetic Medicine Newcastle University Newcastle upon Tyne UK

Unit of Neuromuscular and Neurodegenerative Diseases Department of Neurosciences Bambino Gesù Children's Hospital Rome Italy

UO Neuroimmunologia e Malattie Neuromuscolari Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

UO Neuroradiologia Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

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