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无症状性高肌酸激酶(CK)血症是指神经学、肌肉病理及肌电图无异常的持续性高 CK 血症的病理状态。无家族史的 Duchenne 型肌营养不良症(DMD)携带者的诊断历来较困难,但自发现肌营养不良蛋白抗体后,诊断 DMD 携带者才成为可能。该文报告1例经过观察确诊的无症状性高 CK 血症的 DMD 携带者,并讨论抗肌营养不良蛋白抗体的应用。病例 6岁,女孩。否认家族中神经肌肉疾病史。妊娠及分娩期无异常,婴幼儿时期活动无异常。5岁时因胸痛发现高 CK 血症,但心电图及超声心动图正常。6岁时因持续高 CK 血症而入院。检查后排除肌张力低下、肌萎缩、腓肠肌假性肥大及神经学方面异
Asymptomatic hyperkinetic (CK) hyperlipidemia refers to the pathological state of persistent hypercholesterolemia with no abnormalities in neurology, muscle pathology, and electromyography. Family history of Duchenne muscular dystrophy (DMD) carrier diagnosis has always been more difficult, but since the discovery of dystrophin antibody, the diagnosis of DMD carriers have become possible. This article reports on 1 case of DMD carriers with confirmed asymptomatic hypercholesterolemia and discusses the use of anti-dystroglycan antibodies. Case 6 years old, girl. Denied the history of neuromuscular disease in the family. No abnormal pregnancy and childbirth, no abnormal activity during infancy. 5 years old because of chest pain found high CK, but ECG and echocardiography normal. 6 years old due to persistent hypercholesterolemia and admission. Check out the exclusion of muscle tone, muscle atrophy, gastrocnemius, pseudo-hypertrophy and neurological differences