Journal of neurology · 2025
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies.
СтатьяНаблюдательное исследованиеМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
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
Аннотация
OBJECTIVES: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSION: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSION: 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.