SMA Newsroom

Apr 3, 2023

Consensus for SMN2 genetic analysis in SMA patients at 270th ENMC International Workshop.

At the 270th ENMC International Workshop, which took place from 10 - 12th of March 2023 in the Netherlands, participants agreed to determine a standard operating procedure for SMN2 gene copy number determination and a specific workflow for diagnosis and management of SMA patients identified in neonatal screening as well as to engage collaborative efforts for the creation of a European network to address discrepancies among expert centres. 

These endeavours will be pursued in the course of 2023. A full report will be published in Neuromuscular Disorders.