Spinal muscular atrophy

“Take her home, love her, and we will strive together to prioritize her quality of life as her symptoms progress”: this is what many parents recall hearing when receiving a diagnosis of spinal muscular atrophy (SMA) in the past. The most common inherited basis of infant death, SMA is caused by recessive, loss-of-function mutations of SMN1 (survival motor neuron 1 gene), with retention but altered splicing of SMN2, deficient expression of SMN protein, and degeneration of motor neurons causing profound muscle weakness. Two-thirds of patients with SMA develop symptoms before age 6 months, and without interventions of tube feeding and mechanical ventilation, had a nearly 100% mortality rate at age 2 years.1