Carrera-García Laura, Expósito-Escudero Jessica, Ñungo Garzón Nancy Carolina, Pareja Ana, Fernández-García Miguel A, Ortez Carlos, Medina Julita, Martínez-Salcedo Eduardo, Urbano Mario, Grimalt Maria Antonia, Munell Francina, García-Campos Óscar, Roca Sandra, Moya Obdulia, Estévez-Arias Berta, Balsells Sol, Frongia Anna Lia, Borràs Ariadna, Puig-Ram Cristina, García Romero Mar, Calvo Rocío, López-Lobato Mercedes, Pitarch-Castellano Inmaculada, Natera-de Benito Daniel, Nascimento Andres
Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Group of Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
J Neurol. 2025 Apr 9;272(5):331. doi: 10.1007/s00415-025-13042-y.
To describe the natural history of the upper limb motor function in spinal muscular atrophy (SMA) type 2 and analyze the impact of SMA-modifying therapies on Revised Upper Limb Module (RULM) scores.
This is a retrospective, multicenter, observational study including individuals with SMA type 2, aged between 30 months and 20 years at the time of their first RULM assessment, with available follow-up data.
We enrolled 149 untreated individuals as part of the natural history cohort, with a mean age of 9.5 years at the first assessment and a mean follow-up duration of 3.98 years (SD 1.97, range 0.3-7.7). An increase in RULM scores was observed in early childhood within this cohort. However, after 4.4 years of age, a gradual decline in RULM scores was noted with increasing age. In contrast, RULM scores were significantly higher in individuals receiving treatment with nusinersen or risdiplam compared to natural history data.
Our findings provide a natural history of upper extremity motor function in children and adolescents with SMA type 2. The RULM scores typically improve during the early years of life, peaking around 4.4 years of age, after which they progressively decline with age. The data presented here will facilitate the assessment of treatment response in individuals with SMA type 2, especially in those with already severely limited motor function.
描述2型脊髓性肌萎缩症（SMA）上肢运动功能的自然史，并分析SMA修正疗法对改良上肢模块（RULM）评分的影响。
这是一项回顾性、多中心观察性研究，纳入了2型SMA患者，在首次进行RULM评估时年龄在30个月至20岁之间，且有可用的随访数据。
我们纳入了149名未经治疗的个体作为自然史队列的一部分，首次评估时的平均年龄为9.5岁，平均随访时间为3.98年（标准差1.97，范围0.3 - 7.7）。在该队列中，幼儿期观察到RULM评分有所增加。然而，在4.4岁之后，随着年龄增长，RULM评分逐渐下降。相比之下，接受诺西那生或利司扑兰治疗的个体的RULM评分明显高于自然史数据。
我们的研究结果提供了2型SMA儿童和青少年上肢运动功能的自然史。RULM评分通常在生命早期有所改善，在4.4岁左右达到峰值，之后随年龄逐渐下降。此处呈现的数据将有助于评估2型SMA个体的治疗反应，特别是那些运动功能已经严重受限的个体。
