成年起病的遗传性远端型脊肌萎缩症(sMA)临床少见,我科近来发现一家系患病2例。家系谱显示可能为常染色体隐性遗传,报告如下。 例1,女性,25岁。24岁起病,无明显诱因渐感双下肢乏力,登高及攀梯困难,走路摇晃,易跌倒。症状缓慢加重,两下肢变细,并觉肉跳,下蹲后站起困难。近半年双臂抬举力弱,两腿不能行走,生活难自理。家族史见家系谱图。 The onset of adult hereditary distal spinal muscular atrophy (sMA) clinical rare, our department recently found a family of 2 cases. Family pedigree display may be autosomal recessive, the report is as follows. Example 1, female, 25 years old. 24-year-old onset, no obvious incentive to gradually feel the lower extremity fatigue, climbing and climbing difficulties, walking shaking, easy to fall. Slow increase in symptoms, lower extremities thinning, and feel flesh jump, stand up after squatting difficulties. Nearly half of the arms lifting force is weak, legs can not walk, life difficult to take care of themselves. Family history family pedigree.