Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder characterized by progressive muscle weakness. It has varying clinical severity, ranging from mild proximal muscle weakness to death from restrictive lung disease. The diagnosis is confirmed by genetic testing. Treatment includes survival motor neuron (SMN2) splicing modulator nusinersen, which may be challenging to administer intrathecally as patients develop varying degrees of scoliosis over time, making midline or paramedian lumbar punctures difficult. Patients with complex spinal anatomy may benefit from preprocedural and intraprocedural imaging to allow for a transforaminal approach for the intrathecal administration of nusinersen. Additional SMA treatments include risdiplam, a newer, oral splicing modulator, or SMN1 gene replacement therapy with Zolgensma.