A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research findings from Germany and Australia now show that in rare cases, a positive screening result can be a genetic false alarm. Researchers have discovered that functional tests in a zebrafish model may enable fast and reliable clinical decision-making in cases of unclear genetic findings.
This article was originally published on MedicalXpress.com
