David Gómez-Andrés1, Jorge Díaz2, Francina Munell1, Ángel Sánchez-Montáñez3, Irene Pulido-Valdeolivas4, Lionel Suazo2, Cristián Garrido2, Susana Quijano-Roy5, Jorge A Bevilacqua6,7. 1. Paediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), Barcelona, Spain. 2. Medical Imaging Center, University of Chile Clinical Hospital, Santiago, Chile. 3. Paediatric Neuroradiology, Vall d'Hebron University Hospital (Euro-NMD, ERN-RND), Barcelona, Spain. 4. Visual Pathway Laboratory, Neuroimmunology Center and Neurology Department, Biomedical Research Center August Pi i Sunyer (IDIBAPS), Hospital Clínic Barcelona, Spain. 5. 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. 6. Neuromuscular Unit, Department of Neurology and Neurosurgery, University of Chile Clinical Hospital. 7. Department of Anatomy and Legal Medicine, Faculty of Medicine, University of Chile, Santiago, Chile.
Abstract
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.
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.
Authors: Luis A Cea; Gabriela Fernández; Guisselle Arias-Bravo; Mario Castillo-Ruiz; Rosalba Escamilla; María C Brañes; Juan C Sáez Journal: Int J Mol Sci Date: 2020-08-21 Impact factor: 5.923
Authors: Harmen Reyngoudt; Fiona E Smith; Ericky Caldas de Almeida Araújo; Ian Wilson; Roberto Fernández-Torrón; Meredith K James; Ursula R Moore; Jordi Díaz-Manera; Benjamin Marty; Noura Azzabou; Heather Gordish; Laura Rufibach; Tim Hodgson; Dorothy Wallace; Louise Ward; Jean-Marc Boisserie; Julien Le Louër; Heather Hilsden; Helen Sutherland; Aurélie Canal; Jean-Yves Hogrel; Marni Jacobs; Tanya Stojkovic; Kate Bushby; Anna Mayhew; Volker Straub; Pierre G Carlier; Andrew M Blamire Journal: J Cachexia Sarcopenia Muscle Date: 2022-04-03 Impact factor: 12.063