Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.

Journal: Journal of cachexia, sarcopenia and muscle
Published Date: Jun 1, 2025

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.

Authors

  • José Verdú-Díaz
    From the Neuromuscular Disorders Unit, Neurology Department (J.V.-D., J.A.-P., I.I., J.D.-M.), and Radiology Department (C.N.-P., J.L.), Hospital de la Santa Creu I Sant Pau, Barcelona, Spain; UOC di Neurologia (G.T.), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Copenhagen Neuromuscular Center, Department of Neurology (J.V.), Rigshospitalet, University of Copenhagen, Denmark; John Walton Muscular Dystrophy Research Centre (V.S., J.D.-M.), University of Newcastle, Newcastle Upon Tyne, UK; Hospital Universitario Donostia (R.F.-T.); and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (I.I., J.D.-M.), Madrid, Spain.
  • Carla Bolano-Díaz
    John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Alejandro Gonzalez-Chamorro
    John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Sam Fitzsimmons
    John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Jodi Warman-Chardon
    Department of Medicine (Neurology), The Ottawa Hospital, Ottawa, Canada.
  • Goknur Selen Kocak
    John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Debora Mucida-Alvim
    John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Ian C Smith
    Ottawa Hospital Research Institute, Ottawa, Canada.
  • John Vissing
    From the Neuromuscular Disorders Unit, Neurology Department (J.V.-D., J.A.-P., I.I., J.D.-M.), and Radiology Department (C.N.-P., J.L.), Hospital de la Santa Creu I Sant Pau, Barcelona, Spain; UOC di Neurologia (G.T.), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Copenhagen Neuromuscular Center, Department of Neurology (J.V.), Rigshospitalet, University of Copenhagen, Denmark; John Walton Muscular Dystrophy Research Centre (V.S., J.D.-M.), University of Newcastle, Newcastle Upon Tyne, UK; Hospital Universitario Donostia (R.F.-T.); and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (I.I., J.D.-M.), Madrid, Spain.
  • Nanna Scharff Poulsen
    Copenhagen Neuromuscular Centre, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Sushan Luo
    Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
  • Cristina Domínguez-González
    Neuromuscular Disorders Unit, Neurology Department, Hospital 12 de Octubre, Madrid, Spain.
  • Laura Bermejo-Guerrero
    Neuromuscular Disorders Unit, Neurology Department, Hospital 12 de Octubre, Madrid, Spain.
  • David Gómez-Andrés
    Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • Javier Sotoca
    Neuromuscular Disorders Unit, Neurology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Anna Pichiecchio
    Advanced Imaging and Radiomics Center, Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy.
  • Silvia Nicolosi
    University of Pavia; Mondino IRCCS Foundation, Pavia, Italy.
  • Mauro Monforte
    Unitá Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
  • Claudia Brogna
    Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.
  • Eugenio Mercuri
    Centro Clinico Nemo, IRCCS Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.
  • Jorge Alfredo Bevilacqua
    Hospital Clínico Universidad de Chile, Santiago de Chile, Chile.
  • Jorge Díaz-Jara
    Hospital Clínico Universidad de Chile, Santiago de Chile, Chile.
  • Benjamín Pizarro-Galleguillos
    Programa de Doctorado en Ciencias Médicas y Especialidad, Escuela de Postgrado Facultad de Medicina Universidad de Chile, Santiago, Chile.
  • Peter Krkoska
    University Hospital Brno, Brno, Czech Republic.
  • Jorge Alonso-Pérez
    From the Neuromuscular Disorders Unit, Neurology Department (J.V.-D., J.A.-P., I.I., J.D.-M.), and Radiology Department (C.N.-P., J.L.), Hospital de la Santa Creu I Sant Pau, Barcelona, Spain; UOC di Neurologia (G.T.), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Copenhagen Neuromuscular Center, Department of Neurology (J.V.), Rigshospitalet, University of Copenhagen, Denmark; John Walton Muscular Dystrophy Research Centre (V.S., J.D.-M.), University of Newcastle, Newcastle Upon Tyne, UK; Hospital Universitario Donostia (R.F.-T.); and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (I.I., J.D.-M.), Madrid, Spain.
  • Montse Olivé
    Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • Erik H Niks
    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
  • Hermien E Kan
    C.J. Gorter MRI Center, Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands.
  • James Lilleker
    Northern Care Alliance NHS Foundation Trust, Manchester, UK.
  • Mark Roberts
    The U.S. Naval Research Laboratory, Washington, DC, United States.
  • Bianca Buchignani
    Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy.
  • Jinhong Shin
    Department of Neurology, Pusan National University School of Medicine, Busan, Republic of Korea.
  • Florence Esselin
    Centre de Référence des Maladies du Motoneurone, Department of Neurology, Montpellier University Hospital, Montpellier, France.
  • Emmanuelle Le Bars
    Department of Neuroradiology, I2FH Platform, Montpellier University Hospital, Montpellier, France.
  • Anne Marie Childs
    Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Edoardo Malfatti
    Paris Est University, APHP Henri-Mondor University Hospital, Créteil, France.
  • Anna Sarkozy
    Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Luke Perry
    Department of Anaesthesia and Pain Management, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
  • Sniya Sudhakar
    Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Edmar Zanoteli
    Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • Filipe Tupinamba Di Pace
    Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • Emma Matthews
    The Centenary Hospital for Women and Children, Canberra Health Services, Canberra, Australian Capital Territory, Australia.
  • Shahram Attarian
    Reference Center for Neuromuscular Diseases and ALS, APHM, University Hospital of Marseille/Timone University Hospital, Marseille, France.
  • David Bendahan
    Aix-Marseille Universite, CNRS, Centre de Résonance Magnétique Biologique et Médicale, UMR, Marseille, France.
  • Matteo Garibaldi
    Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy.
  • Laura Fionda
    Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.
  • Alicia Alonso-Jiménez
    Neuromuscular Reference Center, Department of Neurology, Universitair Ziekenhuis van Antwerpen, Universiteit Antwerpen, Antwerp, Belgium.
  • Robert Carlier
    University Hospital Raymond-Poincaré, Garches, France.
  • Ali Asghar Okhovat
    Neurology Department, Shariati Hospital, Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Shahriar Nafissi
    Neurology Department, Shariati Hospital, Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Atchayaram Nalini
    National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.
  • Seena Vengalil
    National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.
  • Kieren Hollingsworth
    Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Chiara Marini-Bettolo
    John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Volker Straub
    John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
  • Giorgio Tasca
    From the Neuromuscular Disorders Unit, Neurology Department (J.V.-D., J.A.-P., I.I., J.D.-M.), and Radiology Department (C.N.-P., J.L.), Hospital de la Santa Creu I Sant Pau, Barcelona, Spain; UOC di Neurologia (G.T.), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Copenhagen Neuromuscular Center, Department of Neurology (J.V.), Rigshospitalet, University of Copenhagen, Denmark; John Walton Muscular Dystrophy Research Centre (V.S., J.D.-M.), University of Newcastle, Newcastle Upon Tyne, UK; Hospital Universitario Donostia (R.F.-T.); and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (I.I., J.D.-M.), Madrid, Spain.
  • Jaume Bacardit
  • Jordi Díaz-Manera
    From the Neuromuscular Disorders Unit, Neurology Department (J.V.-D., J.A.-P., I.I., J.D.-M.), and Radiology Department (C.N.-P., J.L.), Hospital de la Santa Creu I Sant Pau, Barcelona, Spain; UOC di Neurologia (G.T.), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Copenhagen Neuromuscular Center, Department of Neurology (J.V.), Rigshospitalet, University of Copenhagen, Denmark; John Walton Muscular Dystrophy Research Centre (V.S., J.D.-M.), University of Newcastle, Newcastle Upon Tyne, UK; Hospital Universitario Donostia (R.F.-T.); and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (I.I., J.D.-M.), Madrid, Spain. jdiazm@santpau.cat.

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