论文部分内容阅读
家系1:先证者,男,8岁。走路缓慢,易跌,腰椎过度前凸,走路呈曲型的鸭行步态。跌倒后站起来,需从侧卧位,翻转为俯卧,再以双手支撑地面和下肢缓慢地站起。伴腓肠肌假性肥大。化验室检查:血常规、尿常规、便常规均在正常范围。CPK:6080IU/L,AST153IU/L家族史:其胞兄弟患同病,13岁死亡。 家系2:先症者,男12岁。一般发育尚好,尚能走路,呈鸭子步,脚跟不能着地,起蹲时两手扶膝或扶持
Family 1: Proof, male, 8 years old. Slow walking, easy to fall, excessive lumbar lordosis, walking is curved duck walking gait. Stand up after the fall, from the lateral position, turn to prone, and then with both hands to support the ground and lower limbs slowly stand up. With gastrocnemius pseudo hypertrophy. Laboratory tests: blood, urine, they are routine in the normal range. CPK: 6080IU / L, AST153IU / L family history: its brother suffering from the same disease, 13-year-old died. Family 2: first symptom, male 12 years old. General development is still good, still able to walk, was a duck step, the heel can not touch the ground, squatting both hands knee or support