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Objectives <p>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.</p> Methods <p>This is a retrospective, multicenter, observational study including individuals with SMA type 2, aged between 30&#xa0;months and 20&#xa0;years at the time of their first RULM assessment, with available follow-up data.</p> Results <p>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.</p> Conclusion <p>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&#xa0;years of age, after which they progressively decline with age. The data presented here&#xa0;will facilitate the assessment of treatment response in individuals with SMA type 2, especially in those with already severely limited motor function.</p>

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Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

  • 期刊论文

  • 发表日期：

    2025年4月9日

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  • Laura Carrera-García,
  • Jessica Expósito-Escudero,
  • Nancy Carolina Ñungo Garzón,
  • Ana Pareja,
  • Miguel A. Fernández-García,
  • Carlos Ortez,
  • Julita Medina,
  • Eduardo Martínez-Salcedo,
  • Mario Urbano,
  • Maria Antonia Grimalt,
  • Francina Munell,
  • Óscar García-Campos,
  • Sandra Roca,
  • Obdulia Moya,
  • Berta Estévez-Arias,
  • Sol Balsells,
  • Anna Lia Frongia,
  • Ariadna Borràs,
  • Cristina Puig-Ram,
  • Mar García Romero,
  • Rocío Calvo,
  • Mercedes López-Lobato,
  • Inmaculada Pitarch-Castellano,
  • Daniel Natera-de Benito,
  • Andres Nascimento

摘要

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.