Karolina Hankiewicz1, Robert Y Carlier2,3,4, Leila Lazaro5, Javier Linzoain6, Christine Barnerias3,7, David Gómez-Andrés1,8, Daniela Avila-Smirnow1,9,10, Ana Ferreiro1,11,12, Brigitte Estournet1,3, Pascale Guicheney13, Dominique P Germain14, Pascale Richard15, Sebastian Bulacio16, Dominique Mompoint2, Susana Quijano-Roy1,3,4. 1. Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France. 2. AP-HP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital R. Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France. 3. Centre de Référence de Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Réseau National Français de la Filiére Neuromusculaire (FILNEMUS). 4. Université de Versailles-St Quentin, U1179 UVSQ - INSERM, Montigny, France. 5. Service de Pédiatrie, Centre Hospitalier Côte Basque, Pays Basque, France. 6. Instituto de Neurología Infanto Juvenil - Centro de estudio y tratamiento de epilepsia y sueño (CETES), Córdoba, Argentina. 7. AP-HP, Service de Neurologie Pédiatrique, Hôpital Universitaire Necker Enfants Malades, Université Paris Descartes, Paris, France. 8. Servicio de Neurología Pediátrica del Hospital Universitario La Paz, TRADESMA, IdiPaz, Universidad Autónoma de Madrid, Madrid, España. 9. Unidad de Neurología, División de pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. 10. Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile. 11. Inserm, U787 Myology group, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, UPMC, UMRS 787, Paris, France. 12. AP-HP, Centre de Référence des Maladies Neuromusculaires Paris-Est, Service de Neurologie, GH Pitie-Salpêtrière, Paris, France. 13. Sorbonne Universités, UPMC Universitaire Paris 06, INSERM UMR S1166, Paris, France. 14. University of Versailles - St Quentin en Yvelines, Division of Medical Genetics, U1179 UVSQ - INSERM, Montigny, France. 15. AP-HP, U. F. Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, G. H. Pitié-Salpêtriére, Inserm, UMRS 974, Paris, France. 16. Servicio de Resonancia Magnética Nuclear, Instituto Conci Carpinella, Córdoba, Argentina.
Abstract
INTRODUCTION: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM). METHODS: Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients. RESULTS: Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. CONCLUSIONS: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases.
INTRODUCTION: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM). METHODS: Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) in 5 patients. RESULTS: Analysis of signal and volume abnormalities by T1-TSE sequences in 109 muscles showed a homogeneous pattern characterized by a recognizable combination of atrophy and signal abnormalities in selected muscles of the neck, trunk, pelvic girdle, and lower limbs. Severe wasting of sternocleidomastoid muscle and atrophy of semimembranosus were detected. Selective paraspinal, gluteus maximus, and thigh muscle involvement was also observed. The lower leg was less constantly affected. CONCLUSIONS: WBMRI scoring of altered signal and atrophy in muscle can be represented by heatmaps and is associated with a homogeneous, recognizable pattern in SEPN1-RM, distinct from other genetic muscle diseases.
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Authors: Silvio Alessandro Di Gioia; Samantha Connors; Norisada Matsunami; Jessica Cannavino; Matthew F Rose; Nicole M Gilette; Pietro Artoni; Nara Lygia de Macena Sobreira; Wai-Man Chan; Bryn D Webb; Caroline D Robson; Long Cheng; Carol Van Ryzin; Andres Ramirez-Martinez; Payam Mohassel; Mark Leppert; Mary Beth Scholand; Christopher Grunseich; Carlos R Ferreira; Tyler Hartman; Ian M Hayes; Tim Morgan; David M Markie; Michela Fagiolini; Amy Swift; Peter S Chines; Carlos E Speck-Martins; Francis S Collins; Ethylin Wang Jabs; Carsten G Bönnemann; Eric N Olson; John C Carey; Stephen P Robertson; Irini Manoli; Elizabeth C Engle Journal: Nat Commun Date: 2017-07-06 Impact factor: 14.919