Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China

• DOI: 10.3389/fneur.2022.1038012
• Publication Date: 2022-12-20T07:54:44Z
• Authors: Chaoping Hu; Xihua Li; Yiyun Shi; Xiaomei Zhu; Lei Zhao; Wenhui Li; Shuizhen Zhou; Yi Wang
• Keywords: SMN1

Background There is a large population of people with spinal muscular atrophy (SMA) in China, and new disease-modifying therapies have become available recently. However, comprehensive data on the management profile treatment-naive SMA patients China are still lacking. Methods As retrospective study, cohort clinical genetic diagnoses 5q were enrolled, ranging from neonatal to 18 years old, Neurology Department Children's Hospital Fudan University between January 2013 December 2020. The regarding their presentations, defects, motor function assessment results, follow ups reviewed. Results We enrolled 392 (male: female = 189: 203): 1a 46, 1b 44, 1c 31, 2a 119, 2b 56, 3a 52, 3b 14, 27 34 administrative districts 389 harbored homozygous deletion exon 7 SMN1 gene (99.2%). median age onset was 0.08 (range: 0–0.30), 0.25 (0.06–0.60), 0.42 (0.08–1.50), 0.67 (0.07–5.08), 1.0 (0.40–1.83), 1.5 (1.00–3.00), 4.04 (1.80–12.00) old for 1a, 1b, 1c, 2a, 2b, 3a, patients, while first (0.08–2.60), (0.17–1.90), 0.80 (0.17–4.5), 2.50 (0.5–15.83), 2.92 (1.08–13.42), 4.25 (1.58–17.33), 7.34 (3.67–14.00) respectively. Patients followed up 15.8 years. event-free survival time months, 15 indeterminate ( p < 0.0001), better situation higher SMN2 copies 0.0171). sitting loss 5.75 13.5 0.0214) that ambulation 9.0 undefined 0.0072). Cox regression analysis showed indicated remaining 3. develop orthopedic deformities 4.5, 5.2, 10.1 SMAs 2, 3, respectively possible trend preservation joint under regular rehabilitation 0.8668). Conclusion Our study elucidated insight into different types providing basis assessing efficacy therapies.