Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
Department of Neurosciences, University of Padova, Padova, Italy.
J Neurol Neurosurg Psychiatry. 2022 Dec;93(12):1253-1261. doi: 10.1136/jnnp-2022-329320. Epub 2022 Oct 11.
Natural history of spinal muscular atrophy (SMA) in adult age has not been fully elucidated yet, including factors predicting disease progression and response to treatments. Aim of this retrospective, cross-sectional study, is to investigate motor function across different ages, disease patterns and gender in adult SMA untreated patients.
Inclusion criteria were as follows: (1) clinical and molecular diagnosis of SMA2, SMA3 or SMA4 and (2) clinical assessments performed in adult age (>18 years).
We included 64 (38.8%) females and 101 (61.2%) males (p=0.0025), among which 21 (12.7%) SMA2, 141 (85.5%) SMA3 and 3 (1.8%) SMA4. Ratio of sitters/walkers within the SMA3 subgroup was significantly (p=0.016) higher in males (46/38) than in females (19/38). Median age at onset was significantly (p=0.0071) earlier in females (3 years; range 0-16) than in males (4 years; range 0.3-28), especially in patients carrying 4 copies. Median Hammersmith Functional Rating Scale Expanded scores were significantly (p=0.0040) lower in males (16, range 0-64) than in females (40, range 0-62); median revised upper limb module scores were not significantly (p=0.059) different between males (24, 0-38) and females (33, range 0-38), although a trend towards worse performance in males was observed. In SMA3 patients carrying three or four SMN2 copies, an effect of female sex in prolonging ambulation was statistically significant (p=0.034).
Our data showed a relevant gender effect on SMA motor function with higher disease severity in males especially in the young adult age and in SMA3 patients.
成人期脊髓性肌萎缩症（SMA）的自然史尚未完全阐明，包括预测疾病进展和治疗反应的因素。本回顾性、横断面研究的目的是调查未经治疗的成年 SMA 患者在不同年龄、疾病模式和性别中的运动功能。
纳入标准如下：（1）临床和分子诊断为 SMA2、SMA3 或 SMA4；（2）在成年期（>18 岁）进行临床评估。
我们纳入了 64 名女性（38.8%）和 101 名男性（61.2%）（p=0.0025），其中 21 名（12.7%）为 SMA2，141 名（85.5%）为 SMA3，3 名（1.8%）为 SMA4。SMA3 亚组中坐者/步行者的比例在男性（46/38）中显著（p=0.016）高于女性（19/38）。女性发病年龄明显（p=0.0071）早于男性（3 岁；范围 0-16 岁），尤其是携带 4 个拷贝的女性。Hammersmith 功能评分扩展量表中位数明显（p=0.0040）低于男性（16，范围 0-64），高于女性（40，范围 0-62）；男性（24，范围 0-38）和女性（33，范围 0-38）的修订上肢模块评分中位数无显著差异（p=0.059），尽管观察到男性表现更差的趋势。在携带三个或四个 SMN2 拷贝的 SMA3 患者中，女性对延长步行能力有显著影响（p=0.034）。
我们的数据显示，性别对 SMA 运动功能有显著影响，男性尤其是年轻成年期和 SMA3 患者的疾病严重程度更高。
