脊髓性肌萎缩症的诊断和治疗研究进展OA

Spinal muscular atrophy(SMA)is a rare motor neuron disease caused by pathogenic variants in the survival motor neuron 1(SMN1)gene.The primary clinical manifestations include progressive muscle weakness and atrophy,which can lead to disability and even death.With ongoing breakthroughs in understanding the disease mechanism and drug development,early identification and presymptomatic diagnosis of SMA have become possible.Disease-modifying treatments are increasingly accessible and significant progress has been made in curative gene therapy.This article systematically reviews recent advances in the diagnosis and treatment of SMA,aiming to enhance understanding and promote standardization.