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

Institutions

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

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Edoardo Malfatti, Anna Pichiecchio, John Vissing, Jodi Warman‐Chardon et al.
4 citations
Journal of Cachexia Sarcopenia and Muscle
Neurogenetic and Muscular Disorders Research
6.50
article

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

Edoardo Malfatti, Anna Pichiecchio, John Vissing, Jodi Warman‐Chardon, Emmanuelle Le Bars, E. Niks, Peter Krkoška, Jaume Bacardit, Montse Olivé, Robert Carlier, Claudia Brogna, Matteo Garibaldi, J. Sotoca, Jorge A. Bevilacqua, Laura Bermejo‐Guerrero, James B Lilleker, David Bendahan, Volker Straub, Laura Fionda, Jin‐Hong Shin, Atchayaram Nalini, Shahriar Nafissi, Hermien E. Kan, Seena Vengalil, C. Bolano-Díaz, Edmar Zanoteli, Bianca Buchignani, Eugenio Maria Mercuri, David Gómez‐Andrés, Nanna Scharff Poulsen, Jorge Alonso‐Pérez, Jorge Díaz‐Jara, Cristina Domínguez‐González, Anna Sárközy, Ali Asghar Okhovat, Chiara Marini‐Bettolo, Giorgio Tasca, Luke Perry, Jordi Díaz‐Manera, Kieren G. Hollingsworth, Sushan Luo, José Verdú-Díaz, Shahram Attarian, Emma Matthews, Alicia Alonso‐Jiménez, A. Gonzalez-Chamorro, Ian C. P. Smith, Florence Esselin, Benjamín Pizarro‐Galleguillos, G. Kocak, Mauro Monforte, Mark Roberts, S. Fitzsimmons, Anne Marie Childs, Sniya Sudhakar, Silvia Nicolosi, Debora Mucida‐Alvim
article en
4 citations

Abstract

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.

Journal of Cachexia Sarcopenia and MuscleVol. 16(3)
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)
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
Openalex Percentile: Top 4%
Neurogenetic and Muscular Disorders Research
6.50
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.