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Kölbel H, Vill K, Schwartz O, et al. Neugeborenenscreeningprogramm für die spinale Muskelatrophie. [Newborn screening program for spinal muscular atrophy]. Nervenarzt. 2021;doi: 10.1007/s00115-021-01204-y.
Kölbel, H., Vill, K., Schwartz, O., Blaschek, A., Nennstiel, U., Schara-Schmidt, U., Hoffmann, G. F., Gläser, D., Röschinger, W., Bernert, G., Klein, A., & Müller-Felber, W. (2021). Neugeborenenscreeningprogramm für die spinale Muskelatrophie. [Newborn screening program for spinal muscular atrophy]. Der Nervenarzt, . https://doi.org/10.1007/s00115-021-01204-y
Kölbel, Heike, et al. "Neugeborenenscreeningprogramm für die spinale Muskelatrophie." [Newborn screening program for spinal muscular atrophy]. Der Nervenarzt vol. (2021). doi: https://doi.org/10.1007/s00115-021-01204-y
Kölbel H, Vill K, Schwartz O, Blaschek A, Nennstiel U, Schara-Schmidt U, Hoffmann GF, Gläser D, Röschinger W, Bernert G, Klein A, Müller-Felber W. Neugeborenenscreeningprogramm für die spinale Muskelatrophie. [Newborn screening program for spinal muscular atrophy]. Nervenarzt. 2021 Oct 15; doi: 10.1007/s00115-021-01204-y. Epub 2021 Oct 15. German. PMID: 34652481.
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Nervenarzt. 2021 Oct 15; doi: 10.1007/s00115-021-01204-y. Epub 2021 Oct 15.

[Newborn screening program for spinal muscular atrophy].

Der Nervenarzt

[Article in German]
Heike Kölbel, Katharina Vill, Oliver Schwartz, Astrid Blaschek, Uta Nennstiel, Ulrike Schara-Schmidt, Georg F Hoffmann, Dieter Gläser, Wulf Röschinger, Günther Bernert, Andrea Klein, Wolfgang Müller-Felber

Affiliations

  1. Klinik für Kinderheilkunde, Kinderklinik 1/Neuropädiatrie, Universitätsmedizin Essen (UME), Hufelandstr. 55, Essen, Deutschland. [email protected].
  2. Dr. v. Haunersches Kinderspital, Ludwig-Maximilians-Universität (LMU), München, Deutschland.
  3. Klinik für Kinder- und Jugendmedizin, UKM, Münster, Deutschland.
  4. Bayerisches Landesamt für Gesundheit und Lebensmittelsicherheit, Oberschleißheim, Deutschland.
  5. Klinik für Kinderheilkunde, Kinderklinik 1/Neuropädiatrie, Universitätsmedizin Essen (UME), Hufelandstr. 55, Essen, Deutschland.
  6. Zentrum für Kinder- und Jugendmedizin, UKHD, Heidelberg, Deutschland.
  7. Genetikum, Neu-Ulm, Deutschland.
  8. Labor Becker und Kollegen, München, Deutschland.
  9. Gottfried von Preyer'sches Kinderspital, Wien, Österreich.
  10. Universitäts-Kinderspital beider Basel, UKBB, Basel, Schweiz.
  11. Inselspital, Universitäts-Kinderklinik Bern, Bern, Schweiz.

PMID: 34652481 DOI: 10.1007/s00115-021-01204-y

Abstract

BACKGROUND: The introduction of a comprehensive newborn screening program for spinal muscular atrophy (SMA), specifically for 5q-SMA, is planned for the end of 2021 in Germany. Several targeted treatment options have become available for all patients with SMA.

MATERIAL AND METHODS: Newborn screening for 5q-SMA is based on the detection of a homozygous deletion of exon 7 in the SMN1 gene by molecular genetic analysis from the dried blood card. In all cases a second blood sample must be drawn as a part of confirmation diagnostics including the determination of the SMN2 copy numbers.

RESULTS: Insights from pilot projects performed in parts of Germany are presented. Advantages and disadvantages of the screening project are discussed.

CONCLUSION: Consultation and treatment should be carried out in a department of neuropediatrics with experience in the treatment of children with 5q-SMA, which is able to provide all current treatment options for the child, so that, when necessary, the treatment can be started within the first month of life.

© 2021. Springer Medizin Verlag GmbH, ein Teil von Springer Nature.

Keywords: 5q-SMA; Confirmation diagnostics; Presymptomatic treatment; SMN protein; SMN2 copy number

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