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Huntington舞蹈病又称慢性进行性舞蹈病,是一种常染色体显性遗传的神经变性疾病。临床表现为慢性进行性加重的舞蹈样不自主动作和痴呆。该病多在30～50岁之间起病,病程一般为10～15年。作者发现一家系13例患者,现报告如下,并对其分子机制、遗传早现现象及遗传咨询加以讨论。 1 临床资料 1.1 先证者Ⅳ_4,男,就诊时31岁,24岁时开始夜晚及疲劳时走路不稳,不可控制,手拿东西不牢靠,记忆力减退,2个月后出现左上肢无力,随后左上肢及双下肢亦感无力,逐渐加重,现步态不稳,疲
Huntington chorea, also known as chronic progressive chorea, is an autosomal dominant neurodegenerative disease. Clinical manifestations of chronic progressive aggravating dance-like involuntary movements and dementia. The disease mostly in 30 to 50 years old onset, duration of 10 to 15 years. The authors found that a family of 13 patients, are now reported as follows, and its molecular mechanism, genetic premature phenomenon and genetic counseling to be discussed. 1 clinical data 1.1 proband IV_4, male, at the age of 31 years of age, at the age of 24 began to walk at night and fatigue instability, uncontrollable, hand things not reliable, memory loss, left upper limb weakness after 2 months, then Left upper limb and lower extremity also feel weakness, and gradually increased, the current gait instability, fatigue