185PChanges in timed items in DMD patients amenable to skipping exons 44, 45, 51 and 53: a 24-month collaborative study

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-09-01 DOI:10.1016/j.nmd.2025.105538

G. Cicala , G. Coratti , S. Paolucci , G. Baranello , J. Exposito Escudero , A. Wolfe , M. Brooke , S. Messina , F. Ricci , A. D'Amico , L. Bello , C. Bruno , V. Sansone , R. Masson , V. Nigro , M. Pane , A. Nascimento , F. Muntoni , E. Mercuri , on behalf of the Italian DMD network

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Abstract

This study explored 24-month changes in motor function among 458 ambulant boys with genetically confirmed Duchenne muscular dystrophy (DMD), using two timed items: 10-meter walk/run (10MWR) and time to rise from floor (TRF). Participants were recruited from Italian, UK, and Spanish networks and assessed at baseline, 12, 18, and 24 months. When exon-skipping subgroups were examined the 10MWR were overall stable, with minimal differences across skipping subtypes. In boys ≥7, all exon categories showed functional decline, with exon 51 showing the greatest deterioration. The TRF in contrast showed an increase in TRF, indicating a functional deterioration in both age groups across all exon categories with a more severe increase in boys ≥7, particularly for exons 51 and 53. Overall, the results show a different trend in the two-timed items. On one hand, the 10WR showed a profile consistent with previous reports in NSAA and 6MWT with overall stable results below the age of 7 years and little differences across skipping subgroups. On the other hand, in the TRF the deterioration could already be observed in the younger group and became more marked in the older ones. These findings emphasize the variability in early disease progression in boys with DMD.

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185pdmd患者可跳过外显子44、45、51和53的时间项目变化：一项为期24个月的合作研究

本研究通过两个计时项目：10米步行/跑步（10MWR）和从地板上站起来的时间（TRF），探讨了458名遗传性杜氏肌营养不良症（DMD）患儿24个月运动功能的变化。参与者从意大利、英国和西班牙网络中招募，并在基线、12、18和24个月时进行评估。当检查外显子跳变亚组时，10MWR总体稳定，跳变亚型之间的差异很小。在≥7岁的男孩中，所有外显子类别都表现出功能下降，外显子51表现出最严重的退化。相比之下，TRF显示了TRF的增加，这表明在所有外显子类别中，两个年龄组的功能恶化，在≥7岁的男孩中，尤其是外显子51和53，功能恶化更为严重。总的来说，结果显示了不同的趋势，在两个时间项目。一方面，在NSAA和6MWT中，10WR显示出与先前报道一致的概况，总体稳定的结果在7岁以下，跳跃亚组之间差异不大。另一方面，在TRF中，在年轻人中已经可以观察到这种恶化，并且在老年人中变得更加明显。这些发现强调了DMD男孩早期疾病进展的可变性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.