遗传性共济失调症家族系谱分析报告  

Heredity altogether to aid dysaynergia family genealogical record analysis report

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作  者:卫洁[1] 王佳[1] 孙良璋[1] 张永忠[1] 郭雄[1] 

机构地区:[1]陕西省西安交通大学,西安710061

出  处:《按摩与康复医学》2011年第6期236-237,共2页Chinese Manipulation and Rehabilitation Medicine

摘  要:遗传性共济失调症是常染色体异常引起的共济运动障碍,以中枢神经系统变性为突出表现。本病进展缓慢、有家族遗传史。最初的临床表现是说话障碍,走路不稳,平衡性较差;随之发展为言语不清,走路需扶墙;病程最后可发展为瘫痪在床,大小便不能自理,完全丧失生活能力,给患者生活、家庭带来严重经济影响。临床上依据共济失调类型的不同分为脊髓型、小脑型和脊髓小脑型三种。其中,脊髓型和脊髓小脑型为常染色体隐形遗传,小脑型为常染色体显性遗传。目前临床上尚没有有效的治疗方法。The heredity altogether aids dysaynergia is the euchromosome exceptionally causes altogether aids the movement bar- rier, take central nervous system denaturation as prominent performance. This sickness progress slow, has the family to inherit the history. The initial clinical manifestation is the speech barrier, walks not steadily, the balanced state is bad; For says a word along with it development not clear, walks needs the wall;The course of an illness finally may develop for the paralysis in the bed, the feces and urine cannot take care of oneself, loses the viability completely, lives, the family for the patient brings the serious economical in- fluence. On clinical rests on altogether aids the detuning type to divide into the spinal cord differently, small cerebral and the spinal cord small cerebral three kinds. Among them, spinal cord and spinal cord small cerebral for euchromosome stealth heredity, small cerebral for euchromosome dominance heredity. At present on clinical still did not have the effective method of treatment.

关 键 词:遗传性共济失调症 家族系谱 分析报告 

分 类 号:R3[医药卫生—基础医学]

 

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