摘要
Spinal muscular atrophy（SMA）is a hereditary pediatric motor neuron（MN）disease：survival motor neuron 1（SMN1）gene mutation determines MN degeneration and,consequently,muscle atrophy,breathing and swallowing difficulties,and,in the most severe cases,premature death.A second unaffected gene（SMN2）is present,but it can only produce a limited amount of functional protein,modulating the disease severity and progression.
Spinal muscular atrophy（SMA）is a hereditary pediatric motor neuron（MN）disease：survival motor neuron 1（SMN1）gene mutation determines MN degeneration and,consequently,muscle atrophy,breathing and swallowing difficulties,and,in the most severe cases,premature death.A second unaffected gene（SMN2）is present,but it can only produce a limited amount of functional protein,modulating the disease severity and progression.
