Spinal Muscular Atrophy (SMA)

SMA is an autosomal recessive neuromuscular disease caused by loss of survival motor neuron 1 (SMN1) gene function and is the leading genetic cause of infant death. SMA is a rare disease with a pan-ethnic incidence of ~1/11,000 live births and a high carrier rate of ~1/54 [1].

SMA primarily impacts the muscles that help with movement, breathing, and swallowing, with severity varying among individu- als. It’s caused by a mutation in the SMN1 gene, which is important for the survival of motor neurons. There are several types of SMA, ranging from type 1 (the most severe, which usually appears in infants) to type 4 (which typically appears in adulthood and is less severe). Treatments have improved in recent years, including gene therapy that can slow or even halt disease progression for some individuals.