患女,9岁,以进行性四肢运动障碍5年就诊。5年前,患儿出现双指关节屈曲受限,肿大变形。在当地反复就诊,疑为“多发性关节挛缩畸形”,未予治疗。症状进行性加重,渐至不能握拳。1年前又出现双膝关节运动障碍,屈曲困难,走路时脚跟不能着地,影响生活运动,即来我院。患儿平素身体健康,发育正常,现上小学3年级,学习成绩中等,语文80分,数 Women, 9 years old, with progressive limb movement disorders for 5 years. Five years ago, children had limited flexion and enlarged swollen knuckles. Repeated visits in the local, suspected “multiple joint contracture deformity”, no treatment. Symptoms progressive increase, gradually unable to make a fist. A year ago, there are two knee dyskinesia, flexion difficulties, walking heel can not touch the ground, affecting life movement, that is to come to our hospital. Children with normal physical health, normal development, is now in grade 3, middle school, Chinese 80 minutes, number