Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller). The disease often starts in the muscles of the back, making it hard for children to stand up and walk. It can begin to affect other parts of the body too, causing other muscles to grow weak and shrink. At Nemours Children's, our neurologists and other specialists provide expert care for kids with spinal muscular atrophy.
We’re also involved in innovative research that’s led to a true breakthrough in SMA treatment. Nemours Children's Hospital, Florida (Orlando) was one of only four locations in the world to participate in a landmark study — the first targeted drug trial for SMA. Research showed that a new treatment can slow the effects of SMA, improve kids’ survival and, in some cases, remarkably improve their muscle function. So, some children with SMA type 1 who may have struggled to move around before may now have the hope of sitting, rolling over and standing.
Until recently, there was no truly effective treatment option for the most severe form of SMA (SMA type 1). But in 2016, researchers had a breakthrough — allowing some kids to live longer and reach more developmental milestones. Nemours was at the forefront of the science that led to this discovery. A medication called Nusinersen (or Spinraza™) increases the amount of protein the body needs from a missing gene. And that means improvement in kids’ breathing, motor function and survival.
From diagnosis through treatment, at Nemours we’re dedicated to giving all kids with spinal muscular atrophy not just better care, but better lives.
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