[Newborn screening program for spinal muscular atrophy]. / Neugeborenenscreeningprogramm für die spinale Muskelatrophie.
Nervenarzt
; 93(2): 135-141, 2022 Feb.
Article
em De
| MEDLINE
| ID: mdl-34652481
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 ANDMETHODS:
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular Espinal
/
Triagem Neonatal
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Child
/
Humans
/
Newborn
Idioma:
De
Ano de publicação:
2022
Tipo de documento:
Article