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家族性遗传性痉挛性截瘫是一种少见性遗传性疾病、现将我们在同一家族中发现的三个患者报告如下。阎某某,男,33岁,19岁发病,先感行走时左下肢发僵发硬,活动不灵活,渐感行走时足尖难以抬起,常易跌跤。上述症状渐加重,病后4年右下肢亦受累,走路拖曳,登高困难。病后8年需扶持下尚可行走,近3年双上肢亦有僵硬感,但可自如活动,发病中无肢体麻木,疼痛,亦无二便障碍。检查:智力,眼底及其他颅神经正常,无深浅感觉障碍,肢体肌张力增高,以双下肢明显,无肌萎缩,双上肢肌力5~-级,双下肢4~-级,双上肢指鼻试验稳准,轮替动作稍差,跟膝胫试验因肌张力增高不能完成,无不自主运动,双上肢腱反射活跃,双下肢亢进,双侧髌踝阵挛阳性、双Babinski氏征阳性,轻度弓形足,无脊柱畸形。血清酮氧化酶光密度正常,腰穿脑脊液压力试验、常规、生化正常,心电图正常,血淋巴细胞核型分析46对2y正常,肌电图示神经原性受损。
Familial hereditary spastic paraplegia is a rare, hereditary disease that now reports the three patients we found in the same family. Yan Moumou, male, 33 years old, 19 years old onset, the first sensation of walking the left lower extremity stiff hair, activity is not flexible, gradually walking when the tiptoe difficult to lift, often fall. The symptoms gradually increased, the right lower extremity also affected after 4 years of illness, walking towing, climbing difficulties. After eight years of illness need to be supported under the walk, the last three years also have a sense of stiffness on both upper extremities, but free movement, the incidence of limb numbness, pain, there is no second-hand obstacle. Check: intelligence, fundus and other cranial nerves normal, no sense of depth and sensation, limb muscle tone increased to double obvious lower limbs, muscle atrophy, upper extremity muscle strength 5 ~ - grade, lower extremity 4 ~ - grade, both upper extremity means nose The test was stable and the rotation was slightly worse. The knee tibia test could not be completed due to the increase of muscle tension, all involuntary movements, active upper tendon reflexes, double lower extremities hyperactivity, bilateral patellar ankle clonus positive, double Babinski’s sign positive, light Degree bow foot, no spinal deformity. Serum ketone oxidase normal optical density, lumbar cerebrospinal fluid pressure test, routine, normal biochemical, normal ECG, blood lymphocytes karyotype analysis of 46 pairs of 2y normal, electromyogram showed neurogenic damage.