成年起病的遗传性脊肌萎缩症(SMA)临床少见,我科近来发现姐弟2例。报告如下。 例1 女性,45岁,1988年3月12日收治。32岁起病,无明显诱因渐觉双下肢乏力,近2年来下蹲后起立困难,行走时易跌倒,两下肢变细,二便正常。检查:两前臂远端及两手肌肉轻度萎缩。双下肢远端明显萎缩,可见肌束颤动,肌张力减低,双踝反射消失,其余腱反射活跃,近端肌力Ⅳ°,远端0～Ⅱ°;双 The onset of adult hereditary spinal muscular atrophy (SMA) is rare, our department recently found siblings in 2 cases. The report is as follows. Example 1 Female, 45 years old, admitted March 12, 1988. 32-year-old onset, there is no obvious incentive to gradually lower extremity fatigue, squatting in the past two years standing up difficult to fall when walking, two lower limbs thinning, two will be normal. Check: the distal forearm and both muscles mild atrophy. The distal lower extremity was obviously atrophied, showing fibrillation and hypotonia. The ankle reflex disappeared. The other tendons were reflex active. The proximal muscle strength was Ⅳ ° and the distal end was 0 ° ~