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遗传性痉挛性截瘫是一少见的家族性遗传性疾病。现将我科收治的一例及对其家系进行的调查,报告如下。先证者 女性,34岁。因双下肢发僵行走无力15年,于1991年8月就诊.15年来自感双下肢有僵硬感,不灵活,行走无力。逐渐出现双手发抖,走路向前冲,呈剪刀步态,登楼更感因难。家族史:太祖母、祖父、父亲、弟弟、妹妹、儿子及侄女均患有同样疾病。其家系谱图见附图.体检 神清、语清,面部表情少。颅神经未见异常,双上肢肌力稍减退,双下肢肌力明显减退,行走向前冲,呈剪刀步态;双下肢肌张力增高,腱反射亢进,双侧腹壁反射未引出,双侧踝阵挛阳性,双侧病理征阳性,深浅感觉正常存在。肝功、血糖、脑脊液压力、常规、生化均正常范围,心电图、脑电图、肌电图、头部CT扫描均未见异常。染色体核型分析。染色体G显带核型46XX/46XX,del9g12。
Hereditary spastic paraplegia is a rare familial hereditary disease. Now we receive a case of family and the investigation of their families, the report is as follows. Probate female, 34 years old. Due to weakness of the lower extremities walking stiff for 15 years, in August 1991 for treatment. 15 years from feeling both lower extremity a sense of rigidity, inflexible, weakness. Gradually shaking his hands, walking forward rushing, was scissors gait, ascend to the building more because of the difficulty. Family history: Grandmother, grandfather, father, brother, sister, son and niece all have the same disease. The pedigree of the family is shown in the attached figure. The cranial nerves showed no abnormalities, the muscle strength of both upper extremities slightly diminished, the muscle strength of both lower extremities decreased significantly, the pedicle moved forward and showed scissors gait. The double lower extremity muscular tension increased, tendon hyperreflexia, bilateral abdominal reflex did not lead, bilateral ankle Clonic positive, positive bilateral pathology, the normal sense of depth. Liver function, blood glucose, cerebrospinal fluid pressure, routine, normal biochemical range, ECG, EEG, EMG and head CT scan showed no abnormalities. Chromosomal karyotype analysis. Chromosome G with karyotype 46XX / 46XX, del9g12.