Yasar Niyazi Erdem, Ozdemir Guzelali, Uzun Ata Elif, Ayvali Mustafa Okan, Ata Naim, Ulgu Mahir, Dumlupınar Ebru, Birinci Suayip, Bingol Izzet, Bekmez Senol
Division of Pediatric Orthopaedic Surgery, Ankara Bilkent Children's Hospital, Ankara, Turkey.
Department of Orthopaedics and Traumatology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
J Child Orthop. 2024 Mar 8;18(3):322-330. doi: 10.1177/18632521241235028. eCollection 2024 Jun.
Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear.
In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation.
Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration ( = 0.539, = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age ( = 0.361) or the time of first nusinersen dose ( = 0.39) was not significant ( = 0.076 and = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores.
Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.
1型脊髓性肌萎缩症具有毁灭性的自然病程，在非行走患者中表现为以脊柱侧弯和髋关节半脱位为特征的严重病程。经美国食品药品监督管理局批准的脊髓性肌萎缩症治疗药物诺西那生可延长生存期并增强运动功能。然而，其对脊柱和髋关节畸形的影响仍不明确。
在一项回顾性研究中，纳入了29例2017年至2021年出生、经基因检测确诊、接受鞘内注射诺西那生治疗并已登记到国家电子健康数据库的1型脊髓性肌萎缩症患者。收集了人口统计学资料、首次注射诺西那生时的年龄、总注射次数以及费城儿童医院神经肌肉疾病婴儿测试评分。影像学评估包括伞状肋骨畸形、脊柱侧弯、骨盆倾斜和髋关节半脱位。
平均年龄为3.7±1.1岁（范围2 - 6岁），鞘内注射诺西那生的平均次数为8.9±2.9次（范围4 - 19次）。费城儿童医院神经肌肉疾病婴儿测试评分与诺西那生注射次数之间存在显著相关性（r = 0.539，P = 0.05）。费城儿童医院神经肌肉疾病婴儿测试评分与患者年龄（r = 0.361）或首次注射诺西那生的时间（r = 0.39）之间的相关性不显著（P分别为0.076和0.054）。虽然93.1%的患者有脊柱侧弯，69%有骨盆倾斜，60.7%有髋关节半脱位，但这些情况与患者年龄、诺西那生总注射次数、首次注射时的年龄或费城儿童医院神经肌肉疾病婴儿测试评分均无显著关联。
疾病修饰疗法可显著改善1型脊髓性肌萎缩症患者的总体生存期和运动功能。然而，在大多数病例中，进行性脊柱畸形和髋关节半脱位仍然是严重问题，可能需要加以解决。
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