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患者,女,独生子女。自幼易跌交,智力差,无法完成一年级课程。8岁时因其它病就诊发现两测腓肠肌肥大。1年后出现登楼困难。其母与外祖母也有两侧腓肠肌肥大,但无行走困难。两个舅舅无此现象。查体:无鸭步,但行走摇摆,有Gower征,两侧腓肠肌肥大(周径30cm,小腿长36cm),发硬,两大腿屈肌力4°,两下肢其它肌力为5°,两膝反射(±)。肌电图(股内、外侧肌及胫前肌)见插入电位正常,松弛状态为电静息,轻收缩动作
Patient, female, only child. Easy to fall since childhood, poor intelligence, unable to complete the first grade course. 8 years old due to other medical treatment found two test gastrocnemius hypertrophy. 1 year after the ascension difficulties. The mother and grandmother also have bilateral gastrocnemius hypertrophy, but no difficulty walking. Two uncles do not have this phenomenon. Physical examination: no duck step, but walking swing, there Gower sign on both sides of the gastrocnemius hypertrophy (circumference 30cm, leg length 36cm), stiff hair, the flexor power of two legs 4 °, two lower limb muscle strength of 5 °, two Knee reflex (±). EMG (in the medial, lateral and tibialis anterior muscle) see the normal insertion potential relaxation state of rest, light contraction