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少年型家族性进行性脊肌萎缩症是少见病例。作者最近诊治1例,报告如下。病历摘要女患,19岁,满族,未婚。住院号270933。1984年5月28日入院。患者自6岁开始走路无力,逐渐加重,有时走路摔倒。以后上肢无力。近一年蹲下不能自己站起来。自患病后大腿逐渐变细,现在上臂也变细。第五胎,正常产,6岁前健康。患者大姐亦患同样病,曾在中国医大附属一院诊断为脊髓性肌萎缩,6岁发病,11岁死亡。查体:神志清,心肺正常。神经系统检查:颅神经,除双侧胸锁乳突肌萎缩,抬肩无力外,其余颅神经未见异常。躯干、四肢肌肉不同程度萎缩,可见肌束震颤,以四肢近端肌肉萎缩为重,翼状肩
Juvenile familial progressive spinal muscular atrophy is a rare case. The author of a recent diagnosis and treatment, the report is as follows. Female medical record summary, 19 years old, Manchu, unmarried. Hospital No. 270933. May 28, 1984 admission. Patients from the age of 6 began to walk weakness, and gradually increased, sometimes walking fall. Later upper limb weakness. Crouching in the past year can not stand up. Since the sick thigh gradually tapering, and now the upper arm thinning. The fifth child, normal production, before the age of 6 healthy. Sister also suffering from the same disease, was diagnosed in the First Affiliated Hospital of China Medical University spinal muscular atrophy, 6-year-old, 11-year-old died. Examination: Conscious, normal heart and lung. Nervous system examination: cranial nerve, in addition to bilateral sternomastoid muscle atrophy, shoulder weakness, the rest of the cranial nerves no exception. Torso, limbs varying degrees of muscle atrophy, visible muscle bundle tremor, to the proximal limb muscle atrophy, wing-shaped shoulder