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本文报导一家两例肌营养不良症(MD)患儿,临床征象介于常染色体和X 伴性型MD 之间。病例1:男孩J Ⅲ-3生于1972年,为一对非近亲婚配表型正常父母的长子,弟弟有相同疾病。家中其它成员无肌病。J 足月顺产患有先天性哮喘,8个月能坐,14个月能行走。两岁时步态蹒跚不能跑,易疲劳。51/2岁上楼时虽不用手但很困难。起身时需用手支撑膝和大腿。肌力弱和肌张力低在骨盆和肩胛带更明显,且为非选择性的。远端肌力稍低。颅N 支配的肌肉无受累,无肌肥大。血肌酸稍高,神经生理及肌活检均为肌源性肌病,但肌活检尚难确诊。5岁时
This article reports a case of two children with muscular dystrophy (MD), the clinical signs of between autosomal and X-type MD. Case 1: The boy J Ⅲ-3 was born in 1972 as the eldest son of a normal parent of a non-relative marriage with a common illness. Other members of the family are not myopathy. J full-term spontaneous suffering from congenital asthma, 8 months to sit, 14 months to walk. Two-year-old gait faltering can not run, fatigue. 51/2-year-old but difficult when going upstairs. Get up and need to support your knees and thighs. Muscle weakness and low muscular tension are more pronounced in the pelvis and shoulder girdle and are non-selective. Distal muscle strength is slightly lower. Cranium N dominated muscles without involvement, no muscle hypertrophy. Blood creatine slightly higher, neurophysiological and muscle biopsy are myogenic myopathy, but muscle biopsy is difficult to diagnose. 5 years old