Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy

Wijngaarde, Camiel A., Brink, Rob C., de Kort, Floor A.S., Stam, Marloes, Otto, Louise A.M., Asselman, Fay Lynn, Bartels, Bart, van Eijk, Ruben P.A., Sombroek, Joyce, Cuppen, Inge, Verhoef, Marjolein, van den Berg, Leonard H., Wadman, Renske I., Castelein, René M., van der Pol, W. Ludo


Neurology 93 (2), p. e149-e158


OBJECTIVE: To investigate the natural course of scoliosis and to estimate lifetime probability of scoliosis surgery in spinal muscular atrophy (SMA).

METHODS: We analyzed cross-sectional data from 283 patients from our population-based cohort study. Additional longitudinal data on scoliosis progression and spinal surgery were collected from 36 consecutive patients who received scoliosis surgery at our center.

RESULTS: The lifetime probability of receiving scoliosis surgery was ≈80% in SMA types 1c and 2. Patients with type 2 who only learned to sit (type 2a) were significantly younger at time of surgery than those who learned to sit and stand (type 2b). The lifetime risk of surgery was lower in type 3a (40%) and strongly associated with age at loss of ambulation: 71% in patients losing ambulation before 10 years of age vs 22% losing ambulation after the age of 10 years (p = 0.005). In type 3a, preserving the ability to walk 1 year longer corresponded to a 15% decrease in lifetime risk of scoliosis surgery (hazard ratio 0.852, p = 0.017). Scoliosis development was characterized by initial slow progression, followed by acceleration in the 1.5- to 2-year period before surgery.

CONCLUSION: The lifetime probability of scoliosis surgery is high in SMA types 1c and 2 and depends on age at loss of ambulation in type 3. Motor milestones such as standing that are not part of the standard classification system are of additional predictive value. Our data may act as a reference to assess long-term effects of new SMA-specific therapies.