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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305260 | PMC |
| http://dx.doi.org/10.1016/j.xjtc.2020.08.051 | DOI Listing |
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Article Synopsis
- Early diagnosis and treatment are crucial for improving outcomes in infants with spinal muscular atrophy (SMA), leading to the implementation of newborn screening programs, but there is a lack of robust data confirming their benefits.* -
- This study compared SMA patients diagnosed through newborn screening to those diagnosed after symptoms appeared, using data from 234 children across Germany, Austria, and Switzerland from the SMARTCARE registry.* -
- Results showed that infants identified through newborn screening started treatment significantly earlier (average 1.3 months) than those diagnosed by symptoms (average 10.7 months), leading to better motor milestones, such as higher rates of independent sitting and walking.*
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