Tidlig diagnose af spinal muskelatrofi

Untreated spinal muscular atrophy (SMA) causes progressive motor impairment in affected children. Clinical trials of newly developed disease-modifying drugs have shown the greatest effect in young and in pre-symptomatic children as summarised in this review. An application for neonatal screening in Denmark is currently under consideration. Diagnosis and treatment of children with SMA is often delayed, and until a national screening becomes available, the only way to reduce diagnostic delay is to increase the awareness of medical staff and to make information on early signs of SMA available for concerned families.