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进行性肌营养不良是一种遗传性、家族性的随意肌疾病,临床上并不少见,我们在遗传咨询门诊遇到有同胞3人发病。现报告如下:一家三代共7人,患引病者3人,均为男性,其中Ⅱ_1-父母正常,非进亲结婚。诊断标准:根据中国医科大学上海第一医院主编《儿科学》上的诊断标准。①病肌先出现在四肢近端而且两侧对称。②假性肥大的存在。③病性持续进行,但
Progressive muscular dystrophy is a hereditary, familial voluntary muscle disease, clinically not uncommon, we encountered in the genetic counseling clinics three fellow attack. The report is as follows: A total of seven generations of three generations of patients with disease 3 were men, including Ⅱ_1-normal parents, non-married into marriage. Diagnostic criteria: According to the diagnostic criteria of “Pediatrics” edited by Shanghai First Hospital of China Medical University. ① sick muscle first appeared in the proximal limbs and bilateral symmetry. ② the existence of pseudo-hypertrophy. ③ disease continued, but