%0 Journal Article
%A Vill, Katharina
%A Tacke, Moritz
%A König, Anna
%A Baumann, Matthias
%A Baumgartner, Manuela
%A Steinbach, Meike
%A Bernert, Guenther
%A Blaschek, Astrid
%A Deschauer, Marcus
%A Flotats-Bastardas, Marina
%A Friese, Johannes
%A Goldbach, Susanne
%A Gross, Martin
%A Günther, René
%A Hahn, Andreas
%A Hagenacker, Tim
%A Hauser, Erwin
%A Horber, Veronka
%A Illsinger, Sabine
%A Johannsen, Jessika
%A Kamm, Christoph
%A Koch, Jan C
%A Koelbel, Heike
%A Koehler, Cornelia
%A Kolzter, Kirsten
%A Lochmüller, Hanns
%A Ludolph, Albert
%A Mensch, Alexander
%A Meyer Zu Hoerste, Gerd
%A Mueller, Monika
%A Mueller-Felber, Wolfgang
%A Neuwirth, Christoph
%A Petri, Susanne
%A Probst-Schendzielorz, Kristina
%A Pühringer, Manuel
%A Steinbach, Robert
%A Schara-Schmidt, Ulrike
%A Schimmel, Mareike
%A Schrank, Bertold
%A Schwartz, Oliver
%A Schlachter, Kurt
%A Schwerin-Nagel, Annette
%A Schreiber, Gudrun
%A Smitka, Martin
%A Topakian, Raffi
%A Trollmann, Regina
%A Tuerk, Matthias
%A Theophil, Manuela
%A Rauscher, Christian
%A Vorgerd, Mathias
%A Walter, Maggie C
%A Weiler, Markus
%A Weiss, Claudia
%A Wilichowski, Ekkehard
%A Wurster, Claudia
%A Wunderlich, Gilbert
%A Zeller, Daniel
%A Ziegler, Andreas
%A Kirschner, Janbernd
%A Pechmann, Astrid
%T 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
%J Journal of neurology
%V 271
%N 5
%@ 0367-004X
%C Heidelberg
%I Springer
%M DZNE-2024-00510
%P 2787 - 2797
%D 2024
%X Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland. Inclusion criteria required comprehensive baseline data and diagnosis outside of newborn screening. Only data prior to initiation of disease-modifying treatment were included. The median age at disease onset was 3.0 years, with a mean of 6.4 years. Significantly, 55
%K Humans
%K Retrospective Studies
%K Male
%K Female
%K Survival of Motor Neuron 2 Protein: genetics
%K Child, Preschool
%K Child
%K Muscular Atrophy, Spinal: genetics
%K Muscular Atrophy, Spinal: diagnosis
%K Infant
%K Adolescent
%K Disease Progression
%K Age of Onset
%K Registries
%K Germany
%K Switzerland
%K Austria: epidemiology
%K Young Adult
%K Neonatal Screening
%K Infant, Newborn
%K Adult
%K SMN2 (Other)
%K Age of onset (Other)
%K Molecular therapies (Other)
%K Neonatal screening (Other)
%K Pre-symptomatic treatment (Other)
%K SMA (Other)
%K Spinal muscular atrophy (Other)
%K Survival of Motor Neuron 2 Protein (NLM Chemicals)
%K SMN2 protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC11055798
%$ pmid:38409538
%R 10.1007/s00415-024-12188-5
%U https://pub.dzne.de/record/269341