Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Background: Spinal muscular atrophy (SMA) is an autosomal-recessive disorder resulting in progressive muscle weakness. In August 2017, the Agência Nacional de Vigilância Sanitária (ANVISA) approved first treatment for SMA, a drug named nusinersen that administered intrathecally. However, many patients with SMA have neuromuscular scoliosis or spinal instrumentation challenging intrathecal access. Many centers use radiological methods to guide lumbar puncture, such as ultrasound, videofluoroscopy tomography, but these are often available only referral centers.