Bird T D, Carlson C B, Hall J G
J Med Genet. 1976 Oct;13(5):357-62. doi: 10.1136/jmg.13.5.357.
A family is described with essential non-progressive chorea occurring in an autosomal dominant inheritance pattern over four generations. A few families with an apparently similar disorder have been 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, sometimes, be associated with behavioural problems and learning difficulties. For genetic counselling, it is important to distinguish this disorder from Huntington's disease and other hereditary disorders associated with chorea.
本文描述了一个家族,其原发性非进行性舞蹈症以常染色体显性遗传模式在四代人中出现。此前已有少数家族报告了一种明显类似的病症。这种病症的特征是在儿童早期发病,舞蹈症不会进展,患者可长寿。它与痴呆、癫痫、僵硬或共济失调无关。这是一种会在社交场合令人尴尬的病症,有时可能与行为问题和学习困难有关。对于遗传咨询而言,将这种病症与亨廷顿舞蹈症及其他与舞蹈症相关的遗传性疾病区分开来很重要。