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变形性肌张力不全或称扭转痉挛是一种少见锥体外系遗传性疾病。现将1992-1993年在本院遗传咨询门诊诊治的5例及家系调查报告如下:病例与家系5例中男3例、女2例。5例不是同一家系。其中2例为同胞兄妹,2例为父子关系。起病年龄1岁2个月一1o岁。5例均为全身性肌张力不全,累及?
Deformability Muscular dysfunction or torsion spasm is a rare extrapyramidal hereditary disease. Now 1992-1993 in our hospital genetic counseling outpatient diagnosis and treatment of 5 cases and family survey reports are as follows: 5 cases of cases and pedigrees, 3 males and 2 females. 5 cases are not the same family. Two of them were siblings and two were father-son relationship. Age onset 1 year 2 months a 1o years old. 5 cases were systemic dystonia, involving?