Spinal Muscular Atrophy

🧬 AI profile — grown from 6ic coverage Spinal Muscular Atrophy (SMA) is a rare and often fatal genetic disorder affecting nerve cells in the spinal cord, leading to progressive muscle weakness and paralysis. It is caused by a mutation in the SMN1 gene, which is responsible for producing a critical protein for motor neuron function. The recent development of a life-changing SMA test for newborns in England is a significant breakthrough in the diagnosis and potential treatment of SMA, enabling early intervention and improved outcomes for affected individuals.