A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis – possibility of preventing scoliosis with a rehabilitation program focusing on postural management

Background

Early-onset scoliosis, which develops before 2 years of age and progresses rapidly, has been reported as an inevitable complication in spinal muscular atrophy (SMA) patients with 2 copies of the survival motor neuron 2 (SMN2) gene that receive post-onset disease-modifying therapy (DMT) within 6 months after birth. We describe a case of SMA type 0 in a patient with 2 copies of SMN2 that was treated with nusinersen, in which the patient's motor function improved and no progression of spinal deformity was observed.

Case presentation

The patient was born after an unremarkable gestation, but presented with severe muscle weakness immediately after birth. A genetic analysis conducted at 9 weeks of age revealed homozygous deletion of SMN1 and 2 copies of SMN2. He was diagnosed with SMA type 0 and treated with nusinersen from the age of 10 weeks. However, he required a tracheostomy and ventilatory management due to pharyngomalacia at 4 months. Slight spinal deformity was observed after sitting training was initiated at 1 year and 3 months. Physical therapy with careful postural management using a seating system and a supine stander was conducted twice a week to promote motor development. He was restricted to sitting without support for 30 min a day. At age 6, he can stand with support for several minutes, and scoliosis has been prevented.

Conclusion

Our case suggests that early proactive, non-surgical management with targeted rehabilitation can prevent scoliosis progression in SMA patients with 2 copies of SMN2 that receive post-onset DMT within 6 months of birth.