A Canadian team from Toronto reports the development of scoliosis in seven infants with SMA type I (homozygous deletion of SMN1 with 2 copies of SMN2) treated with nusinersen before the age of 6 months and followed for a median of 21 months (range 10-57 months).
- Nusinersen resulted in an improvement in the CHOP-INTEND global motor score 5 to 10 months after the first injection in all infants, although two infants showed a decline in this score at 24 and 42 months.
- While limb motor scores improved, the majority of patients did not improve their axial motor scores.
- All had scoliosis before the age of one year with a Cobb angle ranging from 18° to 60°.
- One child was on invasive ventilation at the initiation of treatment; at the last visit, all six children who had initial spontaneous breathing were on non-invasive nocturnal ventilation or in the process of being so (for nocturnal hypoventilation or thoracic remodelling).
