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首页> 外文期刊>Pediatric neurology >Benign hereditary chorea: A case report and brief review of inherited choreas
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Benign hereditary chorea: A case report and brief review of inherited choreas

机译:良性遗传性舞蹈病:病例报告和遗传性舞蹈病的简要回顾

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摘要

Background Chorea as a nonprogressive abnormality is often associated with Sydenham chorea in the pediatric population. Benign hereditary chorea is a condition where chorea presents before age 5 years and runs a very slowly progressive course.Patients We present a family that was thought to have a variant of Huntington disease but on genetic testing was confirmed to have benign hereditary chorea. We describe a 7-year-old girl in this family who presented with involuntary movements and hyperactivity.Results Our family was determined to have benign hereditary chorea after extensive genetic testing and follow-up.Conclusions When chorea presents as a familial entity, the differential diagnosis is limited and is often misdiagnosed as Huntington disease. In this family benign hereditary chorea was found to be the cause.
机译:背景舞蹈病是一种非进行性异常,通常与儿童人群的Sydenham舞蹈病有关。良性遗传性舞蹈病是一种在5岁之前就出现并且在进行过程中非常缓慢的疾病。患者我们介绍了一个家族,该家族被认为患有亨廷顿舞蹈病,但经基因检测证实是良性遗传性舞蹈病。我们描述了这个家庭中的一名7岁女孩,她表现出不自主运动和过度活跃。诊断是有限的,经常被误诊为亨廷顿病。在这个家庭中,良性遗传性舞蹈病被发现是原因。

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