观察 3 型脊髓性肌萎缩症的自然病程：来自波兰脊髓性肌萎缩症登记处的数据。
Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy.
机构信息
Department of Neurology, European Reference Network EURO-NMD, Medical University of Warsaw, Warsaw, Poland.
Rare Diseases Research Platform, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland.
出版信息
Orphanet J Rare Dis. 2021 Mar 24;16(1):150. doi: 10.1186/s13023-021-01771-y.
BACKGROUND
Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic diseases leading to premature death or severe motor disability. New therapies have been developed in recent years that change the natural history of the disease. The aim of this study is to describe patients included in the Polish Registry of SMA, with a focus on the course of type 3 SMA (SMA3) before the availability of disease-modifying treatments.
RESULTS
790 patients with SMA were included in the registry (173 with type 1 [SMA1], 218 with type 2 [SMA2], 393 with SMA3, and six with type 4 SMA [SMA4]), most (52%) of whom were adults. Data on SMN2 gene copy number were available for 672 (85%) patients. The mean age of onset was 5 months for SMA1, 11.5 months for SMA2, and 4.5 years for SMA3. In patients with SMA3, the first symptoms occurred earlier in those with three copies of SMN2 than in those with four copies of SMN2 (3.2 years vs. 6.7 years). The age of onset of SMA3 was younger in girls than in boys (3.1 years vs. 5.7 years), with no new cases observed in women older than 16 years. Male patients outnumbered female patients, especially among patients with SMA3b (49 female vs. 85 male patients) and among patients with SMA3 with four copies of SMN2 (30 female vs. 69 male patients). 44% of patients with SMA3 were still able to walk; in those who were not still able to walk, the mean age of immobilization was 14.0 years. Patients with SMA3a (age of onset < 3 years) and three copies of SMN2 had significantly worse prognosis for remaining ambulant than patients with SMA3b (age of onset ≥ 3 years) and four copies of SMN2.
CONCLUSIONS
The Registry of SMA is an effective tool for assessing the disease course in the real world setting. SMN2 copy number is an important prognostic factor for the age of onset and ambulation in SMA3. Sex and age of disease onset also strongly affect the course of SMA. Data supplied by this study can aid treatment decisions.
背景
脊髓性肌萎缩症（SMA）是导致早逝或严重运动障碍的最常见和最严重的遗传疾病之一。近年来，已经开发出了一些新的治疗方法，改变了疾病的自然进程。本研究的目的是描述纳入波兰 SMA 登记处的患者，重点介绍在使用疾病修饰治疗之前 3 型 SMA（SMA3）的病程。
结果
该登记处共纳入 790 名 SMA 患者（173 名 1 型[SMA1]，218 名 2 型[SMA2]，393 名 3 型[SMA3]，6 名 4 型[SMA4]），其中大多数（52%）为成年人。672 名（85%）患者的 SMN2 基因拷贝数数据可用。SMA1 的发病年龄平均为 5 个月，SMA2 为 11.5 个月，SMA3 为 4.5 年。在 SMA3 患者中，具有三个 SMN2 拷贝的患者比具有四个 SMN2 拷贝的患者更早出现首发症状（3.2 岁对 6.7 岁）。SMA3 的发病年龄在女孩中比男孩更早（3.1 岁对 5.7 岁），在 16 岁以上的女性中未发现新病例。男性患者多于女性患者，尤其是在 SMA3b 患者中（49 名女性对 85 名男性患者）和在具有四个 SMN2 拷贝的 SMA3 患者中（30 名女性对 69 名男性患者）。44%的 SMA3 患者仍能行走；在那些不能行走的患者中，固定的平均年龄为 14.0 岁。SMA3a（发病年龄<3 岁）和三个 SMN2 拷贝的患者与 SMA3b（发病年龄≥3 岁）和四个 SMN2 拷贝的患者相比，保持行走的预后显著更差。
结论
SMA 登记处是评估真实世界疾病进程的有效工具。SMN2 拷贝数是 SMA3 发病年龄和行走能力的重要预后因素。性别和发病年龄也强烈影响 SMA 的病程。本研究提供的数据可以辅助治疗决策。
Zotero 插件