The affected children never learn to crawl or sit because of a genetic defect, since motor nerves degenerate and the muscles atrophy. Until recently, the disease was considered incurable. With a gene therapy that costs an incredible two million euros per child, SMA1 is now practically curable. The catch: the disease must be recognized and treated as early as possible. Otherwise irreversible damage will be caused within a few weeks after birth.
All babies are examined
“The newborn screening for SMA creates a crucial basis,” says neuropediatrician Günther Bernert, President of Austrian Muscle Research. A drop of blood from the newborn, which is taken in the hospital, is sufficient for the diagnosis. This mass screening has been in Austria for exactly a year – and the results are promising: During this period, the gene defect responsible for spinal muscular atrophy was discovered in 13 newborns.
All severely affected children were able to receive the effective therapy within the first three weeks of life. The less rapidly progressing SMA types 2 and 3 are also detected with the screening. (ie)
Source: Nachrichten
