Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
Corresponding Author
David Gómez-Andrés MD, PhD
Paediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), Barcelona, Spain
Correspondence to: D.Gómez-Andrés; e-mail: [email protected] and Jorge A. Bevilacqua e-mail: [email protected]Search for more papers by this authorJorge Díaz MD
Medical Imaging Center, University of Chile Clinical Hospital, Santiago, Chile
Search for more papers by this authorFrancina Munell MD, PhD
Paediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), Barcelona, Spain
Search for more papers by this authorÁngel Sánchez-Montáñez MD
Paediatric Neuroradiology, Vall d'Hebron University Hospital (Euro-NMD, ERN-RND), Barcelona, Spain
Search for more papers by this authorIrene Pulido-Valdeolivas MD, PhD
Visual Pathway Laboratory, Neuroimmunology Center and Neurology Department, Biomedical Research Center August Pi i Sunyer (IDIBAPS), Hospital Clínic Barcelona, Spain
Search for more papers by this authorLionel Suazo MD
Medical Imaging Center, University of Chile Clinical Hospital, Santiago, Chile
Search for more papers by this authorCristián Garrido MT
Medical Imaging Center, University of Chile Clinical Hospital, Santiago, Chile
Search for more papers by this authorSusana Quijano-Roy MD, PhD
APHP–Neurology and Intensive Care Department. University Hospital Raymond Poincaré, Garches, U1179 Versailles University, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, ERN Neuro-NMD, France
Search for more papers by this authorCorresponding Author
Jorge A. Bevilacqua MD, PhD
Neuromuscular Unit, Department of Neurology and Neurosurgery, University of Chile Clinical Hospital
Department of Anatomy and Legal Medicine, Faculty of Medicine, University of Chile, Santiago, Chile
Correspondence to: D.Gómez-Andrés; e-mail: [email protected] and Jorge A. Bevilacqua e-mail: [email protected]Search for more papers by this authorCorresponding Author
David Gómez-Andrés MD, PhD
Paediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), Barcelona, Spain
Correspondence to: D.Gómez-Andrés; e-mail: [email protected] and Jorge A. Bevilacqua e-mail: [email protected]Search for more papers by this authorJorge Díaz MD
Medical Imaging Center, University of Chile Clinical Hospital, Santiago, Chile
Search for more papers by this authorFrancina Munell MD, PhD
Paediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), Barcelona, Spain
Search for more papers by this authorÁngel Sánchez-Montáñez MD
Paediatric Neuroradiology, Vall d'Hebron University Hospital (Euro-NMD, ERN-RND), Barcelona, Spain
Search for more papers by this authorIrene Pulido-Valdeolivas MD, PhD
Visual Pathway Laboratory, Neuroimmunology Center and Neurology Department, Biomedical Research Center August Pi i Sunyer (IDIBAPS), Hospital Clínic Barcelona, Spain
Search for more papers by this authorLionel Suazo MD
Medical Imaging Center, University of Chile Clinical Hospital, Santiago, Chile
Search for more papers by this authorCristián Garrido MT
Medical Imaging Center, University of Chile Clinical Hospital, Santiago, Chile
Search for more papers by this authorSusana Quijano-Roy MD, PhD
APHP–Neurology and Intensive Care Department. University Hospital Raymond Poincaré, Garches, U1179 Versailles University, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, ERN Neuro-NMD, France
Search for more papers by this authorCorresponding Author
Jorge A. Bevilacqua MD, PhD
Neuromuscular Unit, Department of Neurology and Neurosurgery, University of Chile Clinical Hospital
Department of Anatomy and Legal Medicine, Faculty of Medicine, University of Chile, Santiago, Chile
Correspondence to: D.Gómez-Andrés; e-mail: [email protected] and Jorge A. Bevilacqua e-mail: [email protected]Search for more papers by this authorABSTRACT
Introduction: The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood.
Methods: Fibroadipose infiltration of 61 muscles was scored based on whole-body MRI of 33 patients with dysferlinopathy and represented in a heatmap. We trained random forests to predict disease duration, Motor Function Measure dimension 1 (MFM-D1), and modified Rankin scale (MRS) score based on muscle scoring and selected the most important muscle for predictions.
Results: The heatmap delineated positive and negative fingerprints in dysferlinopathy. Disease duration was related to infiltration of infraspinatus, teres major–minor, and supraspinatus muscles. MFM-D1 decreased with higher infiltration of teres major–minor, triceps, and sartorius. MRS related to infiltration of vastus medialis, gracilis, infraspinatus, and sartorius.
Discussion: Dysferlinopathy shows a recognizable muscle MRI pattern. Fibroadipose infiltration in specific muscles of the thigh and the upper limb appears to be an important marker for disease progression. Muscle Nerve 59:436–444, 2019
Supporting Information
| Filename | Description |
|---|---|
| mus26403_sup-0001-FigureS1.pdfPDF document, 28.6 KB | Figure S1 Heatmaps that show the relationship between disease duration (S1a), MFM-D1 (S1b) and modified Rankin scale (S1c) and every muscle selected in the corresponding random forest. |
| mus26403_sup-0002-FigureS2.pdfPDF document, 21.5 KB | Figure S2 Adjusted marginal prediction of disease duration according to the 6 most important muscles in the random forest. Infiltration score are translated into ordinals (0 is equal to 0 score, 1 is equal to 1, 2 is equal to 2a, 3 is equal to 2b score and 4 is equal to 3 score) |
| mus26403_sup-0003-FigureS3.pdfPDF document, 24.8 KB | Figure S3 Adjusted marginal prediction of MFM-D1 according to the 6 most important muscles in the random forest |
| mus26403_sup-0004-FigureS4.pdfPDF document, 24.1 KB | Figure S4 Adjusted marginal prediction of modified Rankin scale according to the 6 most important muscles in the random forest |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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