190th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1

Abstract

The ENMC hosted a group of 20 participants including parents, clinicians, scientists and patient representatives involved in care or research of spinal muscular atrophy with respiratory distress (SMARD)/distal spinal muscular atrophy (DSMA) type 1 (OMIM#604320). Participants represented groups from France, Germany, Israel, Italy, the Netherlands, Turkey, the United Kingdom and the United States. The objectives of the meeting were to provide a clinical and scientific update on SMARD/DSMA1, to promote international collaborations and to explore the possibility of starting an international registry and biobank to support scientific endeavors.