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

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

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Carrera-García L.
  • Expósito-Escudero J.
  • Ñungo Garzón N.C.
  • Pareja A.
  • Fernández-García M.A.
  • Ortez C.
  • Medina J.
  • Martínez-Salcedo E.
  • Urbano M.
  • Grimalt M.A.
  • Munell F.
  • García-Campos Ó.
  • Roca S.
  • Moya O.
  • Estévez-Arias B.
  • Balsells S.
  • Frongia A.L.
  • Borràs A.
  • Puig-Ram C.
  • García Romero M.
  • Calvo R.
  • López-Lobato M.
  • Natera-de Benito D.
  • Nascimento A.

Grupos

Abstract

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. © Springer-Verlag GmbH Germany, part of Springer Nature 2025.

Datos de la publicación

ISSN/ISSNe:
0340-5354, 1432-1459

JOURNAL OF NEUROLOGY  SPRINGER HEIDELBERG

Tipo:
Article
Páginas:
-
PubMed:
40205228
Enlace a otro recurso:
www.scopus.com
Factor de Impacto:
1,359 SCImago ℠
Cuartil:
Q1 SCImago ℠

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Keywords

  • Adolescent; Child; Child, Preschool; Disease Progression; Female; Follow-Up Studies; Humans; Infant; Male; Oligonucleotides; Retrospective Studies; Spinal Muscular Atrophies of Childhood; Upper Extremity; Young Adult; nusinersen; risdiplam; nusinersen; oligonucleotide; adolescent; adult; Article; child; clinical assessment; cohort analysis; disease course; female; follow up; human; major clinical study; male; motor performance; multicenter study; observational study; patient monitoring; preschool child; retrospective study; spinal muscular atrophy type 2; treatment response; upper limb; young adult; clinical trial; disease exacerbation; drug therapy; hereditary spinal muscular atrophy; infant; pathophysiology; therapy

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