Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population
Lorène Gerin, Juliette Ropars, Rocio García-Uzquiano, Marta Gómez‐García de la Banda, Pascale Saugier-Véber, I. Desguerre, Emmanuelle Salort‐Campana, Caroline Espil, Christine Barnérias, Vincent Laugel, Claude Cancés, Frédérique Audic, Pascal Cintas, Laure Le Goff, Martial Mallaret, Marie‐Christine Nouguès, Séverine Drunat, Céline Tard, Lamiae Grimaldi‐Bensouda, Susana Quijano‐Roy, for the R-SMA Study Group (FILNEMUS), Shahram Attarian, Cécilia Altuzarra, Djillali Annane, Nathalie Bach, Remi Bellance, Patrick Berquin, Pierre Beze-Beyrie, Francois Boyer, Brigitte Chabrol, Mondher Chouchane, Ariane Choumert, Jean-Baptiste Davion, Kumaran Deiva, Elisa De La Cruz, Klaus Dieterich, Sophie Duclos, Julien Durigneux, Andoni Echaniz-Laguna, Olivier Flabeau, Melanie Fradin, Rachel Froget, Karima Ghorab, Gaëlle Gousse, Marine Guichard, Lucie Guyant-Marechal, Arnaud Isapof, Agnès Jacquin-Piques, Anne-Laure Kaminsky, Pascal Laforet, Clémentine Lambert, Leila Lazaro, Edoardo Malfatti, Sandra Mercier, Maud Michaud, Aleksandra Nadaj-Pakleza, Sylvain Nollet, Noury Jean-Baptiste, Yann Pereon, Anne Pervillé, Christian Richelme, Pascal Sabouraud, Sabrina Sacconi, Elisabeth Sarrazin, Catherine Sarret, Cyril Schweitzer, Guilhem Sole, Marco Spinazzi, Tanya Stojkovic, Marie Thibauld, Valérie Trommsdorf, Catherine Vanhulle, Carole Vuillerot, Ulrike Walther-Louvier, Jon Andoni Urtizberea
Abstract
Background and Objectives: gene are insufficiently described, and presymptomatic treatment remains controversial. Methods: This is a cohort study that analyzed data from SMA patients with zero SMN1 and 4 SMN2 copies collected in the "Registre SMA France" to describe epidemiology, clinical presentation, and course. Results: = 0.01). Sixty-five percent of patients used a wheelchair. Scoliosis surgery and ventilation were required in less than 15%. Discussion: copies in the French population show an onset during childhood and a progressive course with absence or loss of ambulation before adulthood. Presymptomatic treatment seems an acceptable option to consider, although identification of individual pejorative markers of early or severe phenotypes would allow more targeted approaches. Our results and literature suggest a gender effect in this population. Trial Registration Information: NCT04177134.