例1:男,41岁。自幼小腿粗大,易跌倒,14岁蹬楼困难。20岁后渐消瘦,行动困难;现不能行走和翻身,但坐位能修电视机。一年来常呼吸困难,咯泡沫痰,经治可略缓解。父母非近亲婚配,一舅父有同疾,30岁死于肺炎;舅父的舅父亦死于同病,当时均能行走。二哥患同病,大哥及姐妹均健。查:智力佳,四肢及躯干肌 Example 1: Male, 41 years old. Since childhood, leg thick, easy to fall, 14-year-old pedal difficulties. After the age of 20, it became thinner and less able to move. Now it is impossible to walk and stand up, but the sitting position can fix the television. One year often breathing difficulties, slightly bubble phlegm, the rule can be slightly relieved. Parents non-relatives marriage, a uncle has the same illness, died of pneumonia at the age of 30; uncle’s uncle also died of the same disease, were able to walk at that time. Brother suffering from illness, brother and sister are healthy. Check: good intelligence, limbs and trunk muscles