Similar disease progression in nonsense Duchenne muscular dystrophy boys as general natural history: Single Brazilian center 15 years registry view

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY European Journal of Paediatric Neurology Pub Date : 2024-10-12 DOI:10.1016/j.ejpn.2024.10.007

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Abstract

Duchenne muscular dystrophy is a progressive and fatal X-linked neuromuscular disease. Emergent disease-modifying therapy (DMT) in nonsense Duchenne muscular dystrophy (nmDMD) has brought new perspectives to slow down functional decline in this fatal disease. To investigate if there are differences in natural history between nmDMD and other genotypes, we described a retrospective cohort analysis of 25 nonsense mutation DMD (nmDMD) boys without disease-modifying therapy, aged between 1 and 22 years, over the last 15 years (2007–2022) in a single neuromuscular center in Rio de Janeiro and use published data on DMD natural history for comparison. Regarding prognostic factors, there were remarkable and statistically significant early loss of ambulation (at 9.1y ±2.1) and shortening of life expectancy (17.6y ±2.1) in our nmDMD group. Late acquisition of neurodevelopmental milestones and annual rates of decline in respiratory, cardiac, and timed motor function tests are the same between nmDMD patients with standard care and other DMD genotypes as described in the literature. Our data indicates the similarity of natural history and disease progression among DMD boys with nmDMD mutations compared to different mutations.

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无意义的杜兴氏肌肉萎缩症男孩的疾病进展与一般自然史相似：巴西单一中心 15 年的登记情况。

杜兴氏肌营养不良症是一种进行性和致命的 X 连锁神经肌肉疾病。无义杜氏肌营养不良症（nmDMD）新出现的疾病修饰疗法（DMT）为减缓这种致命疾病的功能衰退带来了新的视角。为了研究 nmDM 和其他基因型的自然病史是否存在差异，我们对里约热内卢一家神经肌肉中心过去 15 年（2007-2022 年）中 25 名年龄在 1-22 岁之间、未接受过疾病修饰治疗的无义突变 DMD（nmDMD）男孩进行了回顾性队列分析，并使用已发表的 DMD 自然病史数据进行比较。关于预后因素，在我们的 nmDM 组中，早期丧失行走能力（9.1 岁 ±2.1 岁）和预期寿命缩短（17.6 岁 ±2.1 岁）的情况显著，并具有统计学意义。接受标准治疗的 nmDMD 患者与文献中描述的其他 DMD 基因型患者在神经发育里程碑的后期获得情况以及呼吸、心脏和定时运动功能测试的年下降率相同。我们的数据表明，与其他基因突变相比，nmDMD 基因突变的 DMD 男孩的自然病史和疾病进展具有相似性。

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来源期刊

European Journal of Paediatric Neurology 医学-临床神经学

CiteScore

6.30

自引率

3.20%

发文量

115

审稿时长

81 days

期刊介绍： The European Journal of Paediatric Neurology is the Official Journal of the European Paediatric Neurology Society, successor to the long-established European Federation of Child Neurology Societies. Under the guidance of a prestigious International editorial board, this multi-disciplinary journal publishes exciting clinical and experimental research in this rapidly expanding field. High quality papers written by leading experts encompass all the major diseases including epilepsy, movement disorders, neuromuscular disorders, neurodegenerative disorders and intellectual disability. Other exciting highlights include articles on brain imaging and neonatal neurology, and the publication of regularly updated tables relating to the main groups of disorders.