Summary
Despite the significant improvement in functional motor assessment in patients with SMA1, there is progression of significant scoliosis despite treatment. Subsequently, lack or minimal improvement on the axial CHOP-INTEND scores may predict worsening on the total motor scores
Original Article
Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era
Neurology Clinical Practice
Fatima Al Amrani, Reshma Amin, Jackie Chiang, Lena Xiao, Jennifer Boyd, Eugenia Law, Elisa Nigro, Lauren Weinstock, Ana Stosic, Hernan D Gonorazky
Abstract:
Background: The introduction of spinal muscular dystrophy (SMA) modifying therapies, such as antisense oligonucleotide therapy has changed the natural history of SMA. Most reports on treatment outcomes have focused on motor scores and respiratory function. However, the impact of this novel therapy on the progression of scoliosis is not known. The objective of this study is to document the development and progression of scoliosis in patients with SMA1 treated with nusinersen.
Methods: A descriptive single center study was conducted with patients with SMA1 who were treated with nusinersen before 6 months of age. Data was collected on patients who met criteria, including age at the first nusinersen dose, number of nusinersen doses, degree of scoliosis, respiratory parameters, feeding route and motor scores at baseline and follow-up. CHOP-INTEND was sub-analyzed using axial (AxS) and appendicular motor scores (ApS) to evaluate a possible correlation between scoliosis and axial muscle strength.
Results: From our cohort, thirty-one percent (11/35) of patients had a diagnosis of SMA1. Sixty-three percent (7/11) met the inclusion criteria. All patients (7/7) showed initial improvement in their CHOP-INTEND scores in correlation with improvement on the ApS. Despite this, the majority of patients did not show no improvement in the AxS. Subsequently, all patients developed scoliosis in the first year of life with Cobb angles that ranged between 18-60 degrees. Furthermore, total CHOP-INTEND scores had dropped in two patients alongside the development of a Cobb angle of > 40 degrees.
Conclusion: Despite the significant improvement in functional motor assessment in patients with SMA1, there is progression of significant scoliosis despite treatment. Subsequently, lack or minimal improvement on the axial CHOP-INTEND scores may predict worsening on the total motor scores.
Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
https://cp.neurology.org/content/early/2022/05/18/CPJ.0000000000001179
