TürkiyeDiagnosis and screening
Newborn SMA screening in Türkiye: death rate fell markedly in babies found early
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
The effect of newborn screening for spinal muscular atrophy (SMA) in Türkiye was examined in a national multicenter study. The study included babies with two copies of the SMN2 gene who received nusinersen. Among 96 babies found through screening, the death rate was 6.3%. Among 162 babies diagnosed from symptoms before screening, this rate was 30.9%. Of the babies found through screening, 48% walked on their own, compared with 9% in the other group.
What does it mean for patients and families?
If the heel-prick blood screening finds SMA, it is very important to start treatment quickly.
Source
Scientific paper: Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey. European Journal of Paediatric Neurology, 2026. DOI: 10.1016/j.ejpn.2026.08.003 · PubMed 42580234
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Spinal muscular atrophy (SMA)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.