Transforaminal intrathecal administration of nusinersen for patient with spinal muscular atrophy: report of two cases with severe spinal deformity

Abstract

Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of the spinal cord, resulting in progressive muscle atrophy. Recently, nusinersen has been approved for treating SMA, which should be administered intrathecally. However, lumbar puncture is often technically challenging in patients with SMA because of young age, spinal deformity, scoliosis, and abnormal spinal rotation. Patient 1 was a 36-year-old woman with SMA type 2. Patients 2 was a 17-year-old girl with SMA type 1. We report two patients with SMA in whom intrathecal administration of nusinersen can be achieved safely using a transforaminal approach.