Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens, Claudia Weiß, Jessika Johannsen, Johannes Friese, Andreas Hahn, Andreas Ziegler, Sabine Illsinger, Martin Smitka, Arpad von Moers, Heike Kölbel, Gudrun Schreiber, Nadja Kaiser, Ekkehard Wilichowski, Marina Flotats-Bastardas, Ralf A Husain, Matthias Baumann, Cornelia Köhler, Regina Trollmann, Annette Schwerin-Nagel, Astrid Eisenkölbl, Mareike Schimmel, Martin Fleger, Birgit Kauffmann, Gert Wiegand, Manuela Baumgartner, Christian Rauscher, Sebahattin Cirak, Dieter Gläser, Günther Bernert, Tim Hagenacker, Susanne Goldbach, Kristina Probst-Schendzielorz, Hanns Lochmüller, Wolfgang Müller-Felber, Ulrike Schara-Schmidt, Maggie C Walter, Janbernd Kirschner, Astrid Pechmann
IMPORTANCE: There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect the disease before onset of symptoms. However, data from controlled studies that reliably confirm the benefits of newborn screening are lacking. OBJECTIVE: To compare data obtained on patients with SMA diagnosed through newborn screening and those diagnosed after clinical symptom onset...
April 8, 2024: JAMA Pediatrics