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儿童和青少年中与SGCE基因变异相关的肌阵挛性肌张力障碍的自然史。

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

作者信息

De Francesch Valeria, Cazurro-Gutiérrez Ana, Timmers Elze R, Español-Martín Gemma, Ferrero-Turrión Julia, Gómez-Andrés David, Marcé-Grau Anna, Dougherty-de Miguel Lucía, González Victoria, Moreno-Galdó Antonio, Tijssen Marina A J, Pérez-Dueñas Belén

机构信息

Unidad de Neuropsiquiatría Infantil y Adolescente, AULSS1 Dolomiti, Hospital San Martino, Belluno, Italia.

Grupo de Investigación de Terapias Innovadoras en Neurología Pediátrica, Instituto de Investigación Vall d'Hebron.

出版信息

Dev Med Child Neurol. 2025 Jun;67(6):e104-e114. doi: 10.1111/dmcn.16215. Epub 2025 Jan 31.

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.

摘要

伴有SGCE基因相关性肌阵挛性肌张力障碍的儿童和青少年在平均4年的随访期间出现了运动症状的进展。患者在书写时轴向和肢体肌阵挛以及肌张力障碍的严重程度显著增加。因此,患者报告其言语、书写和行走能力明显下降。高达74%的患者有精神疾病诊断,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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