Case report
Open access
Sep 2026
Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series
Abstract Background Spinal muscular atrophy (SMA) is a recessively inherited autosomal neuromuscular disorder that is associated with deletions or disease-causing variants in the survival motor neuron 1 (SMN1) gene. Delayed diagnosis of SMA remains a common issue worldwide, particularly in regions with unequal medical...
Xi-Hua Guo, Yu-Qi Luo, Ming-Chao Li et al.
· Annals medicus · 1 citation