Article
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Feb 2024
Audic Frédérique, Dubois Sonia M, Durigneux Julien, Barnerias Christine, Isapof Arnaud, Nougues Marie-Christine, Davion Jean-Baptiste, Richelme Christian, Vuillerot Carole, Legoff Laure, Sabouraud Pascal, Cances Claude, Laugel Vincent, Ropars Juliette, Espil-Taris Caroline, Trommsdorff Valérie, Pervillé Anne, Garcia-de-la-Banda Marta Gomez, Testard Hervé, Chouchane Mondher, Walther-Louvier Ulrike, Schweizer Cyril, Halbert Cécile, Badri Myriam, Quijano-Roy Susana, Chabrol Brigitte, Desguerre Isabelle
Abstract excerpt
BACKGROUND: Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder due to an autosomal recessive mutation in the survival motor neuron 1 gene (SMN1), causing degeneration of the anterior horn cells of the spinal cord and resulting in muscle atrophy. This study aimed to report on the 36-month follow-up of children with SMA treated with nusinersen before the age of 3 years. Changes in motor...
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