【摘要】 目的总结强直性肌营养不良症(DM)的临床特点。方法回顾性分析24例DM患者的临床资料。结果本组中20例(83.3%)患者在青年期起病,进展缓慢;19例(79.2%)有家族史。临床表现以面部、颈部及肢体远端肌肉为主的无力、萎缩及强直,伸肌重于屈肌;可伴全身多系统受累;血清肌酶正常或轻度升高。肌电图具有特征性的肌强直放电和肌源性损害;8例肌肉病理检查显示核内移、核链形成,以Ⅰ型肌纤维萎缩为主,7例出现肌纤维坏死,4例肌纤维结构紊乱,3例肌浆块,2例肌膜呈锯齿状。结论DM的临床特征是肌无力、萎缩及强直;肌电图和肌活检对诊断具有重要意义。更多还原

【Abstract】 Objective To summarize the clinical characteristics of myotonic dystrophy(DM).Methods The clinical data of 24 DM cases were analyzed retrospectively.Results 83.3%(20/24) of the patients obtained the disease during youth and it progressed slowly.79.2%(19/24) of the patients had positive family history.DM was a multisystem disease characterizing by myotonia,weakness and atrophy involved in multiple muscle groups,especially in distal limbs,neck and face.Extensors were more severe than flexors.Spontaneous myotonic discharges and myogenic damages were shown on electromyogram.Pathological examination of muscle biopsies showed increased number of central nuclei,nuclear chains and predominant atrophic typeⅠfibers in 8 cases,muscle fiber necrosis in 7 cases,fibrous structure disorder in 4 cases,sarcoplasmic masses in 3 cases,and serration of sarolemma in 2 cases.Conclusions The clinical characteristics of DM are weakness,atrophy and myotonia.Electromyogram and muscle biopsy are helpful in diagnosis of this disease.更多还原