David Gómez-Andrés1,2,3, Ivana Dabaj2,3, Dominique Mompoint4, Karolina Hankiewicz3, Viviane Azzi2, Christine Ioos2, Norma B Romero5, Rabah Ben Yaou6, Jean Bergounioux2, Giséle Bonne6, Pascale Richard7, Brigitte Estournet2,3, Robert Yves-Carlier4,3, Susana Quijano-Roy2,3. 1. Servicio de Pediatría, Hospital Universitario Infanta Sofía, Departamento de Anatomía, Histología y Neurociencia, Universidad Autónoma de Madrid, TRADESMA, IdiPaz, Madrid, España. 2. Assistance Publique des Hôpitaux de Paris, Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Université de Versailles-St Quentin, U1179 UVSQ-INSERM, France. 3. Centre de Référence de Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, Réseau National Français de la Filière Neuromusculaire (FILNEMUS). 4. Assistance Publique des Hôpitaux de Paris, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital R. Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Université de Versailles-St Quentin, U1179 UVSQ-INSERM, France. 5. Institut de Myologie, Groupe Hospitalier-Universitaire La Pitié-Salpêtrìre, Assistance Publique des Hôpitaux de Paris, Université Pierre et Marie Curie-Paris VI, Paris, France. 6. Institut de Myologie, Groupe Hospitalier-Universitaire La Pitié-Salpêtrìre, Assistance Publique des Hôpitaux de Paris, Sorbonne Universités, UPMC Universitaire Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Paris, France. 7. Assistance Publique des Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Charles Foix, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Equipe "Génomique et Physiopathologie des Maladies Cardiovasculaires, Institute of Cardiometabolism and Nutrition", Paris, France.
Abstract
INTRODUCTION: We sought to define the whole-body MRI (WB-MRI) fingerprint of muscle involvement in pediatric LMNA-related dystrophy (LMNA-RD) and to compare it with SEPN1-related myopathy (SEPN1-RM). METHODS: Signal abnormality and atrophy in 109 muscles were scored by semiquantitative scales in 8 children with LMNA-RD and represented by heatmaps. These features were compared with those from 9 SEPN1-RM patients by random forests. RESULTS: LMNA-RD showed predominant signal abnormalities in erector spinae, serratus anterior, subscapularis, gluteus medius and minimus, vastii, adductor magnus and longus, semimembranosus, medial gastrocnemius, and soleus muscles. Psoas, sternocleidomastoid, gracilis, and sartorius muscles often had normal signal but showed atrophy. Cranial, flexor digitorum longus, and tibialis posterior muscles were spared. According to random forests, atrophied semimembranosus in SEPN1-RM was the most relevant feature to distinguish these patients from LMNA-RD. CONCLUSIONS: A selective pattern in WB-MRI for pediatric LMNA-RD exists and can be differentiated from SEPN1-RM by machine learning. Muscle Nerve 54: 192-202, 2016.
INTRODUCTION: We sought to define the whole-body MRI (WB-MRI) fingerprint of muscle involvement in pediatric LMNA-related dystrophy (LMNA-RD) and to compare it with SEPN1-related myopathy (SEPN1-RM). METHODS: Signal abnormality and atrophy in 109 muscles were scored by semiquantitative scales in 8 children with LMNA-RD and represented by heatmaps. These features were compared with those from 9 SEPN1-RM patients by random forests. RESULTS: LMNA-RD showed predominant signal abnormalities in erector spinae, serratus anterior, subscapularis, gluteus medius and minimus, vastii, adductor magnus and longus, semimembranosus, medial gastrocnemius, and soleus muscles. Psoas, sternocleidomastoid, gracilis, and sartorius muscles often had normal signal but showed atrophy. Cranial, flexor digitorum longus, and tibialis posterior muscles were spared. According to random forests, atrophied semimembranosus in SEPN1-RM was the most relevant feature to distinguish these patients from LMNA-RD. CONCLUSIONS: A selective pattern in WB-MRI for pediatric LMNA-RD exists and can be differentiated from SEPN1-RM by machine learning. Muscle Nerve 54: 192-202, 2016.
Authors: Jordi Diaz-Manera; Roberto Fernandez-Torron; Jaume LLauger; Meredith K James; Anna Mayhew; Fiona E Smith; Ursula R Moore; Andrew M Blamire; Pierre G Carlier; Laura Rufibach; Plavi Mittal; Michelle Eagle; Marni Jacobs; Tim Hodgson; Dorothy Wallace; Louise Ward; Mark Smith; Roberto Stramare; Alessandro Rampado; Noriko Sato; Takeshi Tamaru; Bruce Harwick; Susana Rico Gala; Suna Turk; Eva M Coppenrath; Glenn Foster; David Bendahan; Yann Le Fur; Stanley T Fricke; Hansel Otero; Sheryl L Foster; Anthony Peduto; Anne Marie Sawyer; Heather Hilsden; Hanns Lochmuller; Ulrike Grieben; Simone Spuler; Carolina Tesi Rocha; John W Day; Kristi J Jones; Diana X Bharucha-Goebel; Emmanuelle Salort-Campana; Matthew Harms; Alan Pestronk; Sabine Krause; Olivia Schreiber-Katz; Maggie C Walter; Carmen Paradas; Jean-Yves Hogrel; Tanya Stojkovic; Shin'ichi Takeda; Madoka Mori-Yoshimura; Elena Bravver; Susan Sparks; Luca Bello; Claudio Semplicini; Elena Pegoraro; Jerry R Mendell; Kate Bushby; Volker Straub Journal: J Neurol Neurosurg Psychiatry Date: 2018-05-07 Impact factor: 10.154