论文部分内容阅读
Huntington舞蹈病是一种常染色体显性遗传病。其病变主要在大脑皮层和新纹状体的小神经节细胞发生选择性和进行性变性。临床特点:①有明显的家族遗传史;②舞蹈症样表现,③程度不等的智力障碍;④中年起病,症状进行性加重。本病在我国比较少见。例1 男,52岁,陕西山阳人。1982年春开始,觉四肢有蚁行感,以足底为甚,同时觉双下肢行走无力,继感舌头发麻发硬,说话吐字不清,四肢偶而出现不自主乱动,吃饭、喝水有时呛咳,在当地医院治疗无效,且症状加重,站立、走路不稳,有时跌倒,四肢不自主活动更甚,夜间睡觉有时跌落床下。既往患“疟疾”、“伤寒”,否认有冶游史。家族中除堂兄一人25岁起病30岁死亡外,其余患本病
Huntington’s disease is an autosomal dominant disease. The lesions occur mainly in the cerebral cortex and new striatum of the small ganglion cells selective and progressive degeneration. Clinical features: ① obvious family history; ② chorea-like performance, ③ varying degrees of mental retardation; ④ middle-aged onset, progressive worsening of symptoms. The disease is relatively rare in our country. Example 1 Male, 52 years old, Shaanxi Sanyang people. Beginning of the spring of 1982, feel limbs with a sense of ants, to the soles of feet, at the same time feel weak legs walking, following the tongue numbness hard, unclear articulation of words, limb involuntary involuntary emergence, eating and drinking sometimes Choke cough, treatment ineffective in the local hospital, and the symptoms aggravated, standing, walking unsteady, and sometimes falls, involuntary movements of the limbs even worse, sleep at night and sometimes fall under the bed. Past suffering from “malaria”, “typhoid fever”, denied a history of rule. Family, except one cousin 25-year-old died of 30-year-old, the rest of the disease