Towards Comprehensive Detection of the SMN1/2 Genotypes: Potential of Long-Read Sequencing in Routine SMA Genetic Testing

Spinal muscular atrophy [SMA; Online Mendelian Inheritance in Man (OMIM), https://omim.org/entry/253300, last accessed 11/19/2025)] is a genetic disorder characterized by progressive muscle weakness due to degeneration of motor neurons in the spinal cord and brainstem. It is one of the most common inherited neuromuscular conditions in children, with a birth prevalence of 1 in 10,000 and a carrier rate between 1 in 40 and 1 in 1001. As of February 2024, all U.S. states perform newborn screening for SMA2.