Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes

IF 3.8 2区 医学 Q1 CLINICAL NEUROLOGY
Valeria De Francesch, Ana Cazurro-Gutiérrez, Elze R. Timmers, Gemma Español-Martín, Julia Ferrero-Turrión, David Gómez-Andrés, Anna Marcé-Grau, Lucía Dougherty-de Miguel, Victoria González, Antonio Moreno-Galdó, Marina A. J. Tijssen, Belén Pérez-Dueñas
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引用次数: 0

Abstract

Children and adolescents with SGCE-myoclonus dystonia showed a progression of motor symptoms during a mean follow-up of 4 years. Patients developed a significant increase in the severity of axial and limb myoclonus, as well as dystonia during writing. Consequently, patients reported a marked decline in their speech, writing, and walking abilities. Up to 74% of patients had a psychiatric diagnosis, most commonly anxiety, obsessive-compulsive disorders, and attention-deficit/hyperactivity disorder.

Abstract Image

与GCE变异相关的肌阵挛性肌张力障碍在儿童和青少年中的自然史。
患有sgce -肌阵挛性肌张力障碍的儿童和青少年在平均4年的随访期间表现出运动症状的进展。患者在书写过程中出现轴性和肢性肌阵挛以及肌张力障碍的严重程度显著增加。因此,患者报告说他们的语言、写作和行走能力明显下降。高达74%的患者被诊断为精神疾病,最常见的是焦虑症、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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