Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany
Journal of Neuromuscular Diseases, Volume 10, No. 1, Year 2023
Notification
URL copied to clipboard!
Description
Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018-2021, it was included in the general newborn screening from October 2021. To ensure a smooth transition, criteria for follow-up were developed together with key stakeholders. At the beginning of the transition to nationwide screening, false positive findings were reported in 3 patients. After optimization of the screening method in the laboratories concerned, all findings have been subsequently confirmed. On average, the first presentation to a neuromuscular center occurred on day 12 of life, and in patients with 2 or 3 SMN2 copies, therapy started on day 26 of life. Compared with the pilot project, there was no significant delay in timing. © 2023 - The authors. Published by IOS Press.
Authors & Co-Authors
Müller-Felber, Wolfgang
Germany, Munich
Ludwig-maximilians-universität München
Blaschek, Astrid
Germany, Munich
Ludwig-maximilians-universität München
Gläser, Dieter
Unknown Affiliation
Wirth, Brunhilde
Germany, Koln
Universität zu Köln
Röschinger, Wulf
Unknown Affiliation
Kolbel, Heike
Germany, Duisburg
Universität Duisburg-essen
Hannibal, Iris
Germany, Munich
Ludwig-maximilians-universität München
Schara, Ulrike
Germany, Duisburg
Universität Duisburg-essen
Ziegler, Andreas E.
Germany, Heidelberg
Universitätsklinikum Heidelberg
Cirak, Sebahattin
Germany, Ulm
Universität Ulm
Hahn, Andreas
Germany, Giessen
Universitätsklinikum Gießen Und Marburg, Standort Gießen
von der Hagen, Maja
Germany, Dresden
Technische Universität Dresden
Schreiber, Gudrun
Germany, Kassel
Klinikum Kassel Gmbh
Hartmann, Hans
Germany, Hannover
Hannover Medical School
Horber, Veronka
Germany, Tubingen
Universitätsklinikum Und Medizinische Fakultät Tübingen
Kirschner, Jan
Germany, Freiburg Im Breisgau
Universität Freiburg
Vill, Katharina
Germany, Munich
Ludwig-maximilians-universität München
Statistics
Citations: 8
Authors: 17
Affiliations: 21
Identifiers
Doi:
10.3233/JND-221577
ISSN:
22143599
Study Design
Cohort Study