FAMILIAL ESSENTIAL (BENIGN) CHOREA
FAMILIAL ESSENTIAL (BENIGN) CHOREA
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DOI：
10.1136/jmg.13.5.357
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发表时间：
1976-01-01
影响因子：
4
通讯作者：
HALL, JG
中科院分区：
文献类型：
--
作者：
BIRD, TD;CARLSON, CB;HALL, JG
一个家族描述了发生在常染色体显性遗传模式超过4代的基本非进行性舞蹈病。以前也报道过几个明显有类似疾病的家庭。这种情况的特点是早期儿童发病的舞蹈病，这是不进行性的，并与长期生活相容。它与痴呆、癫痫、僵硬或共济失调无关。这是一种社交尴尬状况，可能与行为问题和学习困难有关。对于遗传咨询，将这种疾病与亨廷顿舞蹈病和其他与舞蹈病相关的遗传性疾病区分开来是很重要的。
A family is described with essential non-progressive chorea occurring in an autosomal dominant inheritance pattern over 4 generations. A few families with an apparently similar disorder were reported previously. This condition is characterized by early childhood onset of chorea which is not progressive and is compatible with a long life. It is not associated with dementia, seizures, rigidity or ataxia. It is a socially embarrassing condition and may be associated with behavioral problems and learning difficulties. For genetic counseling, it is important to distinguish this disorder from Huntington''s disease and other hereditary disorders associated with chorea.