Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies.

Journal: Neurology
Published Date:

Abstract

OBJECTIVE: Genetic diagnosis of muscular dystrophies (MDs) has classically been guided by clinical presentation, muscle biopsy, and muscle MRI data. Muscle MRI suggests diagnosis based on the pattern of muscle fatty replacement. However, patterns overlap between different disorders and knowledge about disease-specific patterns is limited. Our aim was to develop a software-based tool that can recognize muscle MRI patterns and thus aid diagnosis of MDs.

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.
  • 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.
  • Claudia Nuñez-Peralta
    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.
  • 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.
  • 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.
  • Volker Straub
    John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.
  • Roberto Fernández-Torrón
    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 Llauger
    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.
  • Isabel Illa
    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.
  • 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.