Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
Journal of Cachexia Sarcopenia and Muscle, vol. 16, pp. e13815
Abstract
BACKGROUND: Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling. Muscle magnetic resonance imaging (MRI) has emerged as a valuable diagnostic tool by identifying characteristic patterns of muscle involvement. However, the increasing complexity of these patterns complicates their interpretation, limiting their clinical utility. Additionally, multi-study data aggregation introduces heterogeneity challenges. This study presents a novel multi-study harmonization pipeline for muscle MRI and an AI-driven diagnostic tool to assist clinicians in identifying disease-specific muscle involvement patterns. METHODS: We developed a preprocessing pipeline to standardize MRI fat content across datasets, minimizing source bias. An ensemble of XGBoost models was trained to classify patients based on intramuscular fat replacement, age at MRI and sex. The SHapley Additive exPlanations (SHAP) framework was adapted to analyse model predictions and identify disease-specific muscle involvement patterns. To address class imbalance, training and evaluation were conducted using class-balanced metrics. The model's performance was compared against four expert clinicians using 14 previously unseen MRI scans. RESULTS: Using our harmonization approach, we curated a dataset of 2961 MRI samples from genetically confirmed cases of 20 paediatric and adult NMDs. The model achieved a balanced accuracy of 64.8% ± 3.4%, with a weighted top-3 accuracy of 84.7% ± 1.8% and top-5 accuracy of 90.2% ± 2.4%. It also identified key features relevant for differential diagnosis, aiding clinical decision-making. Compared to four expert clinicians, the model obtained the highest top-3 accuracy (75.0% ± 4.8%). The diagnostic tool has been implemented as a free web platform, providing global access to the medical community. CONCLUSIONS: The application of AI in muscle MRI for NMD diagnosis remains underexplored due to data scarcity. This study introduces a framework for dataset harmonization, enabling advanced computational techniques. Our findings demonstrate the potential of AI-based approaches to enhance differential diagnosis by identifying disease-specific muscle involvement patterns. The developed tool surpasses expert performance in diagnostic ranking and is accessible to clinicians worldwide via the Myo-Guide online platform.
Authors 57
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Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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Children's Hospital of Eastern Ontario · Ottawa Hospital
Affiliation as printed
Department of Genetics Children's Hospital of Eastern Ontario Ottawa Canada
Department of Medicine (Neurology) The Ottawa Hospital Ottawa Canada
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Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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Ottawa Hospital Research Institute
Affiliation as printed
Ottawa Hospital Research Institute Ottawa Canada
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Copenhagen University Hospital · Rigshospitalet
Affiliation as printed
Copenhagen Neuromuscular Centre, Rigshospitalet Copenhagen University Hospital Copenhagen Denmark
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Copenhagen University Hospital · Rigshospitalet
Affiliation as printed
Copenhagen Neuromuscular Centre, Rigshospitalet Copenhagen University Hospital Copenhagen Denmark
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Shanghai Medical College of Fudan University · Fudan University · Huashan Hospital
Affiliation as printed
Department of Neurology, Huashan Hospital Fudan University Shanghai China
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Hospital Universitario 12 De Octubre
Affiliation as printed
Neuromuscular Disorders Unit, Neurology Department Hospital 12 de Octubre Madrid Spain
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Hospital Universitario 12 De Octubre
Affiliation as printed
Neuromuscular Disorders Unit, Neurology Department Hospital 12 de Octubre Madrid Spain
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Vall d'Hebron Hospital Universitari
Affiliation as printed
Hospital Universitari Vall d'Hebron Barcelona Spain
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Vall d'Hebron Hospital Universitari
Affiliation as printed
Neuromuscular Disorders Unit, Neurology Department Hospital Universitari Vall d'Hebron Barcelona Spain
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Affiliation as printed
Advanced Imaging and AI Center Mondino IRCCS Foundation Pavia Italy
Department of Brain and Behavioural Sciences University of Pavia Pavia Italy
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Affiliation as printed
University of Pavia; Mondino IRCCS Foundation Pavia Italy
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Agostino Gemelli University Polyclinic · Istituti di Ricovero e Cura a Carattere Scientifico
Affiliation as printed
UOC di Neurologia Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy
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Agostino Gemelli University Polyclinic
Affiliation as printed
Fondazione Policlinico Universitario Agostino Gemelli Rome Italy
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Università Cattolica del Sacro Cuore
Affiliation as printed
Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area Università Cattolica del Sacro Cuore Rome Italy
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Hospital Clínico de la Universidad de Chile · University of Chile
Affiliation as printed
Hospital Clínico Universidad de Chile Santiago de Chile Chile
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Hospital Clínico de la Universidad de Chile · University of Chile
Affiliation as printed
Hospital Clínico Universidad de Chile Santiago de Chile Chile
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Affiliation as printed
Programa de Doctorado en Ciencias Médicas y Especialidad Escuela de Postgrado Facultad de Medicina Universidad de Chile Santiago Chile
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Affiliation as printed
University Hospital Brno Brno Czech Republic
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Hospital Universitario Nuestra Señora de Candelaria
Affiliation as printed
Neuromuscular Disease Unit, Neurology Department Hospital Universitario Nuestra Señora de Candelaria Tenerife Spain
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Hospital de Sant Pau · Centre for Biomedical Network Research on Rare Diseases · Centro de Investigación Biomédica en Red · Institut de Recerca Sant Pau
Affiliation as printed
Biomedical Research Institute Sant Pau (IIB Sant Pau) Barcelona Spain
Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid Spain
Neuromuscular Disorders Unit, Department of Neurology Hospital de la Santa Creu i Sant Pau Barcelona Spain
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Erik Harmen Niks Aachen Department of Neurology Leiden University Medical Center Leiden the Netherlands
Leiden University Medical Center
Affiliation as printed
Department of Neurology Leiden University Medical Center Leiden The Netherlands
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Hermien E. Kan Aachen C.J. Gorter MRI Center Department of Radiology Leiden University Medical Center Leiden The Netherlands
Leiden University Medical Center
Affiliation as printed
C.J. Gorter MRI Center, Department of Radiology Leiden University Medical Center Leiden The Netherlands
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Northern Care Alliance NHS Foundation Trust
Affiliation as printed
Northern Care Alliance NHS Foundation Trust Manchester UK
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Northern Care Alliance NHS Foundation Trust
Affiliation as printed
Northern Care Alliance NHS Foundation Trust Manchester UK
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Affiliation as printed
Department of Translational Research and of New Surgical and Medical Technologies University of Pisa Pisa Italy
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Affiliation as printed
Department of Neurology Pusan National University School of Medicine Busan Republic of Korea
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Centre Hospitalier Universitaire de Montpellier
Affiliation as printed
Centre de Référence des Maladies du Motoneurone, Department of Neurology Montpellier University Hospital Montpellier France
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Centre Hospitalier Universitaire de Montpellier
Affiliation as printed
Department of Neuroradiology, I2FH Platform Montpellier University Hospital Montpellier France
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Leeds Teaching Hospitals NHS Trust
Affiliation as printed
Leeds Teaching Hospitals NHS Trust Leeds UK
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Hôpitaux Universitaires Henri-Mondor
Affiliation as printed
Paris Est University, APHP Henri‐Mondor University Hospital Créteil France
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Great Ormond Street Hospital · University College London
Affiliation as printed
Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital London UK
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Great Ormond Street Hospital · University College London
Affiliation as printed
Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital London UK
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Great Ormond Street Hospital · Great Ormond Street Hospital for Children NHS Foundation Trust
Affiliation as printed
Department of Neuroradiology Great Ormond Street Hospital for Children NHS Foundation Trust London UK
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Affiliation as printed
Department of Neurology Faculdade de Medicina da Universidade de São Paulo (FMUSP) São Paulo Brazil
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St George’s University Hospitals NHS Foundation Trust
Affiliation as printed
St George's University and St George's University Hospitals NHS Foundation Trust London UK
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Aix-Marseille Université · Hôpital de la Timone
Affiliation as printed
Reference Center for Neuromuscular Disorders CHU La Timone, Aix‐Marseille University Marseille France
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Centre National de la Recherche Scientifique · Aix-Marseille Université · Centre de Résonance Magnétique Biologique et Médicale
Affiliation as printed
Aix‐Marseille University, CRMBM, CNRS UMR 7339 Marseille France
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Affiliation as printed
Department of Neuroscience, Mental Health and Sensory Organs (NESMOS) SAPIENZA University of Rome Rome Italy
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Azienda Ospedaliera Sant'Andrea
Affiliation as printed
Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital Rome Italy
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University of Antwerp · Antwerp University Hospital
Affiliation as printed
Neuromuscular Reference Center, Department of Neurology, Universitair Ziekenhuis van Antwerpen Universiteit Antwerpen Antwerp Belgium
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Affiliation as printed
University Hospital Raymond‐Poincaré Garches France
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Shariati Hospital · Tehran University of Medical Sciences
Affiliation as printed
Neurology Department, Shariati Hospital, Neuromuscular Research Center Tehran University of Medical Sciences Tehran Iran
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Shariati Hospital · Tehran University of Medical Sciences
Affiliation as printed
Neurology Department, Shariati Hospital, Neuromuscular Research Center Tehran University of Medical Sciences Tehran Iran
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National Institute of Mental Health and Neurosciences
Affiliation as printed
National Institute of Mental Health and Neurosciences (NIMHANS) Bengaluru India
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National Institute of Mental Health and Neurosciences
Affiliation as printed
National Institute of Mental Health and Neurosciences (NIMHANS) Bengaluru India
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Affiliation as printed
Translational and Clinical Research Institute Newcastle University Newcastle upon Tyne UK
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Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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Affiliation as printed
Interdisciplinary Computing and Complex BioSystems (ICOS) Research Group, School of Computing Newcastle University Newcastle upon Tyne UK
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Jordi Díaz‐Manera corresponding
Affiliation as printed
John Walton Muscular Dystrophy Research Centre Newcastle University Newcastle upon Tyne UK
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