Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
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
- Edoardo Malfatti (ORCID: https://orcid.org/0000-0001-7871-8600)
- Anna Pichiecchio (ORCID: https://orcid.org/0000-0002-5654-4088)
- John Vissing (ORCID: https://orcid.org/0000-0001-6144-8544)
- Jodi Warman‐Chardon (ORCID: https://orcid.org/0000-0002-0187-2199)
- Emmanuelle Le Bars (ORCID: https://orcid.org/0000-0002-3927-9868)
- E. Niks (ORCID: https://orcid.org/0000-0001-5892-5143)
- Peter Krkoška (ORCID: https://orcid.org/0000-0002-3626-4177)
- Jaume Bacardit (ORCID: https://orcid.org/0000-0002-2692-7205)
- Montse Olivé (ORCID: https://orcid.org/0000-0001-5727-0165)
- Robert Carlier
- Claudia Brogna (ORCID: https://orcid.org/0000-0002-9526-6367)
- Matteo Garibaldi (ORCID: https://orcid.org/0000-0003-1830-2886)
- J. Sotoca
- Jorge A. Bevilacqua (ORCID: https://orcid.org/0000-0002-0525-9308)
- Laura Bermejo‐Guerrero (ORCID: https://orcid.org/0000-0002-8349-715X)
- James B Lilleker (ORCID: https://orcid.org/0000-0002-9230-4137)
- David Bendahan (ORCID: https://orcid.org/0000-0002-1502-0958)
- Volker Straub (ORCID: https://orcid.org/0000-0001-9046-3540)
- Laura Fionda (ORCID: https://orcid.org/0000-0002-8813-2272)
- Jin‐Hong Shin (ORCID: https://orcid.org/0000-0002-5174-286X)
- Atchayaram Nalini (ORCID: https://orcid.org/0000-0001-9791-3639)
- Shahriar Nafissi (ORCID: https://orcid.org/0000-0003-4763-4310)
- Hermien E. Kan (ORCID: https://orcid.org/0000-0002-5772-7177)
- Seena Vengalil (ORCID: https://orcid.org/0000-0002-0629-9221)
- C. Bolano-Díaz
- Edmar Zanoteli (ORCID: https://orcid.org/0000-0002-4991-6760)
- Bianca Buchignani (ORCID: https://orcid.org/0000-0003-0954-5384)
- Eugenio Maria Mercuri (ORCID: https://orcid.org/0000-0002-9851-5365)
- David Gómez‐Andrés (ORCID: https://orcid.org/0000-0001-5654-7791)
- Nanna Scharff Poulsen (ORCID: https://orcid.org/0000-0002-3739-8759)
- Jorge Alonso‐Pérez (ORCID: https://orcid.org/0000-0001-8866-5186)
- Jorge Díaz‐Jara
- Cristina Domínguez‐González (ORCID: https://orcid.org/0000-0001-5151-988X)
- Anna Sárközy (ORCID: https://orcid.org/0000-0002-1353-0583)
- Ali Asghar Okhovat (ORCID: https://orcid.org/0000-0002-9286-4943)
- Chiara Marini‐Bettolo (ORCID: https://orcid.org/0000-0002-1425-7443)
- Giorgio Tasca (ORCID: https://orcid.org/0000-0003-0849-9144)
- Luke Perry
- Jordi Díaz‐Manera (ORCID: https://orcid.org/0000-0003-2941-7988)
- Kieren G. Hollingsworth (ORCID: https://orcid.org/0000-0002-3135-8131)
- Sushan Luo (ORCID: https://orcid.org/0000-0002-9033-7568)
- José Verdú-Díaz (ORCID: https://orcid.org/0000-0001-5631-0030)
- Shahram Attarian (ORCID: https://orcid.org/0000-0002-7211-4694)
- Emma Matthews (ORCID: https://orcid.org/0000-0002-3810-306X)
- Alicia Alonso‐Jiménez (ORCID: https://orcid.org/0000-0002-2200-9255)
- A. Gonzalez-Chamorro
- Ian C. P. Smith (ORCID: https://orcid.org/0000-0001-5269-1710)
- Florence Esselin
- Benjamín Pizarro‐Galleguillos
- G. Kocak
- Mauro Monforte
- Mark Roberts
- S. Fitzsimmons
- Anne Marie Childs
- Sniya Sudhakar
- Silvia Nicolosi
- Debora Mucida‐Alvim
Institutions
- Università Cattolica del Sacro Cuore (IT)
- University of Pisa (IT)
- Centre National de la Recherche Scientifique (FR)
- University of Antwerp (BE)
- Université Paris-Est Créteil (FR)
- Université de Montpellier (FR)
- Aix-Marseille Université (FR)
- Fudan University (CN)
- University of Pavia (IT)
- Children's Hospital of Eastern Ontario (CA)
- Leeds Teaching Hospitals NHS Trust (GB)
- Leiden University Medical Center (NL)
- Great Ormond Street Hospital (GB)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- Ottawa Hospital (CA)
- St George’s University Hospitals NHS Foundation Trust (GB)
- Hospital de Sant Pau (ES)
- Agostino Gemelli University Polyclinic (IT)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- Northern Health and Social Care Trust (GB)
- Research Institute Hospital 12 de Octubre (ES)
- Hospital Universitario Nuestra Señora de Candelaria (ES)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- University Hospital Brno (CZ)
- Shariati Hospital (IR)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro de Investigación Biomédica en Red (ES)
- CTO Andrea Alesini (IT)
- Vall d'Hebron Hospital Universitari (ES)
- Hôpitaux Universitaires Henri-Mondor (FR)
- Hospital Clínico de la Universidad de Chile (CL)
- Muscular Dystrophy UK (GB)
- Hôpital Raymond-Poincaré (FR)
- Centre de Résonance Magnétique Biologique et Médicale (FR)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Huashan Hospital (CN)
- Ottawa Hospital Research Institute (CA)
- University College London (GB)
- Pusan National University (KR)
- University of Chile (CL)
- National Institute of Mental Health and Neurosciences (IN)
- Tehran University of Medical Sciences (IR)
- Newcastle University (GB)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Journal of Cachexia Sarcopenia and Muscle
- Published
- 2025-04-24
- DOI
- https://doi.org/10.1002/jcsm.13815
- Citations
- 4
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 6.50
Funders
- Jain Foundation
- Muscular Dystrophy UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- Newcastle University
- NIHR Newcastle Biomedical Research Centre