Abstract
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by SMN1 gene deletion/mutation. Disease severity (SMA type) correlates with SMN2 gene copy number. Gene therapy (onasemnogene abeparvovec-xioi) provides sustained, continuous production of SMN protein, and is FDA-approved, with ongoing trials for SMA types 2/3, and presymptomatic treatment for all SMA types. With effective treatments available, many US states are implementing newborn screening (NBS) to detect SMN1 deletions and SMN2 copies, providing early diagnosis and the option of presymptomatic treatment.
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