Natural history of SGCE-associated myoclonus dystonia in children and adolescents

IF 4.3 2区 医学 Q1 CLINICAL NEUROLOGY Developmental Medicine and Child Neurology Pub Date : 2025-01-03 DOI:10.1111/dmcn.16230
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Abstract

This study aimed to understand how SGCE-myoclonus dystonia develops from childhood to early adulthood.

Researchers looked at two groups of patients from Spain and the Netherlands. They used specific scales to measure myoclonus (sudden muscle jerks) and dystonia (muscle contractions). They calculated how much these symptoms changed over time and also checked for mental health issues in the Spanish group.

A total of 38 patients (21 males and 17 females) were studied, with ages ranging from 2 to 25 years. The researchers found that the symptoms of myoclonus and dystonia got worse over time, especially during activities like writing. Patients reported that their ability to speak, write, and walk also declined. Additionally, many patients experienced mental health issues, including anxiety, obsessive-compulsive disorder, and attention-deficit/hyperactivity disorder.

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儿童和青少年sgce相关肌阵挛性肌张力障碍的自然历史。
本研究旨在了解sgce -肌阵挛性肌张力障碍如何从儿童期发展到成年早期。研究人员观察了来自西班牙和荷兰的两组患者。他们使用特定的尺度来测量肌阵挛(肌肉突然抽搐)和肌张力障碍(肌肉收缩)。他们计算了这些症状随时间变化的程度,并检查了西班牙组的心理健康问题。共38例患者(男21例,女17例),年龄2 ~ 25岁。研究人员发现,肌阵挛和肌张力障碍的症状随着时间的推移而恶化,尤其是在写作等活动中。患者报告说,他们的说话、写作和行走能力也有所下降。此外,许多患者经历了心理健康问题,包括焦虑、强迫症和注意力缺陷/多动障碍。
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来源期刊
CiteScore
7.80
自引率
13.20%
发文量
338
审稿时长
3-6 weeks
期刊介绍: Wiley-Blackwell is pleased to publish Developmental Medicine & Child Neurology (DMCN), a Mac Keith Press publication and official journal of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) and the British Paediatric Neurology Association (BPNA). For over 50 years, DMCN has defined the field of paediatric neurology and neurodisability and is one of the world’s leading journals in the whole field of paediatrics. DMCN disseminates a range of information worldwide to improve the lives of disabled children and their families. The high quality of published articles is maintained by expert review, including independent statistical assessment, before acceptance.
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