论文部分内容阅读
先证1例遗传性小脑共济失调后对其家族进行调查,共发现4例,报告如下.先证者女性,45岁.23岁结婚,婚前一切正常,婚后渐起走路不稳,下肢活动不灵,易摔倒,仍能参加体力劳动.以后逐渐加重,33岁后,两腿分开行走,歪斜似酒醉,步态蹒跚,多处求医无效,不能参加劳动.40岁后,走路须人搀扶,单独站立也不稳,沉默寡言,言语含糊不清,双手颤抖,一般家务也难以胜任.体检:神清、呆板,吟诗样语言,步态异常,意向性震颤,眼球震颤,四肢肌力正常.肌张力偏高,踝膝反射增强,腹壁反射存在,无病理反射,指鼻试验、跟膝胫试验阳性,把握、轮替、拍腿、划线试验极差,反击征阳性.心肺听诊正常,肝脾来及,BP16/10kPa,血、尿、粪常规检验均正常.家系调查:如附图.Ⅳ_2,20岁.走路笨拙、步态异常、下肢活动不灵、容易绊跌,有加重趋势2年,检查发现两腿基底增宽,膝反射迟钝,指鼻不稳,轮替、闭目难立征阳性.Ⅱ_2、Ⅰ_2分别于30岁、28岁发病,初起均为
Proof of 1 cases of hereditary cerebellar ataxia after the survey of their families found a total of 4 cases, the report is as follows. Proof of the female, 45 years old .23 years old married, everything is normal before marriage, marriage gradually walking instability, lower limbs Activities are not working, easy to fall, still able to participate in manual labor.After gradual increase, after the 33-year-old, legs walked apart, askew like drunk, staggering gait, multiple seek medical invalid, can not participate in labor.40 years old, Walking to be helped, stand alone also unstable, dumb, vague words, shaking hands, the general housework is not competent. Physical examination: Shenqing, dull, chanting languages, abnormal gait, tremor of intention, nystagmus, Limb muscle strength normal. Muscle tension is high, ankle knee reflex enhancement, abdominal reflex exists, no pathological reflex, finger nose test, with the knee shin test positive, grasp, rotation, beat legs, crossed the test very poor, Cardiopulmonary auscultation normal, liver and spleen to and, BP16 / 10kPa, blood, urine, feces routine tests were normal .Familial investigation: as shown in Figure IV_2,20 years old. Walking clumsy, abnormal gait, lower extremity activity is not easy, Down, there is a trend of aggravating 2 years, examination found that the legs widened the base, knee reflex dull, finger nasal instability, rotation, Head hard to establish positive signs .Ⅱ_2, Ⅰ_2 were under 30 years, 28 years after the onset, both early