Hielprikscreening op SMA

Neonatal screening for spinal muscular atrophy

Spinal muscular atrophy (SMA) is a serious disease that causes progressive loss of muscle function, in particular in young children. Once damage has occurred, it is irreversible. There is a treatment available, that performs better the earlier it is administered. Screening for SMA allows the commencement of treatment before symptoms develop. This can yield many health benefits for patients. A disadvantage is that an additional group of patients will be discovered for whom it is unclear what the best medical practice is. According to the Health Council the advantages outweigh the disadvantages. Therefore the council recommends adding SMA to the neonatal screening. Because long term scientific data are lacking, the council recommends an evaluation of the screening after five and ten years.