Gene therapy improves muscle function for children with Spinal Muscular Atrophy

Children with spinal muscular atrophy(SMA) carry specific gene defects which cause progressive muscle wasting and weakness. The disorder results from a genetic defect that causes a deficiency of the survival motor neuron (SMN) protein in specific nerve cells in the spinal cord. Defective nerve cells are unable to transmit nerve impulses they receive from the brain to the muscles. The result is progressive muscle weakness and a lack of motor development, which also affects the muscles used for breathing. This condition usually results in early death when left untreated.