小儿作家性痉挛合并肌阵挛性肌张力障碍：母系印记掩盖了阳性家族史。

Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history.

作者信息

Gerrits M C F, Foncke E M J, Koelman J H T M, Tijssen M A J

机构信息

Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.

出版信息

Eur J Paediatr Neurol. 2009 Mar;13(2):178-80. doi: 10.1016/j.ejpn.2008.03.007. Epub 2008 Jun 20.

DOI:10.1016/j.ejpn.2008.03.007

PMID:18571946

Abstract

Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due to maternal imprinting the family history appeared initially negative for M-D. In children with writer's cramp screening of the SGCE gene should be considered, even with a negative family history.

摘要

肌阵挛性肌张力障碍（M-D）是一种常染色体显性遗传的运动障碍，其特征为肌阵挛性抽搐和肌张力障碍性收缩，最常见的病因是ε-肌聚糖（SGCE，DYT11）基因突变。我们描述了两名患有M-D（DYT11）且表现为书写痉挛的非亲缘关系儿童。由于母系印记，该家族病史最初显示M-D为阴性。对于患有书写痉挛的儿童，即使家族病史为阴性，也应考虑对SGCE基因进行筛查。