强直性肌营养不良的临床及病理研究

目的　通过对强直性肌营养不良的临床表现及肌肉病理研究 ,总结该病的临床及病理特点 ,加深对其的认识以提高诊断水平。方法　对两例强直性肌营养不良病人分别进行肌电图、肌肉活检、头颅磁共振成像、血清酶、血生化等项检查。结果　两例病人均呈慢性病程 ,以肌无力、肌萎缩为主要表现 ,伴有头发稀疏、白内障、心脏传导阻滞等多系统损害。临床无肌强直表现 ,但通过肌电图检查均发现有自发强直电位发放。肌活检均以肌纤维核内移、核袋及核链现象为主要病理改变。结论　强直性肌营养不良是一少见疾病 ,是以肌无力、肌强直为主要表现的多系统损害的遗传性疾病。肌强直症状不突出时 ,易延误诊断。尽早行肌电图检查以发现亚临床肌强直现象 ,并进行肌活检是诊断该病的关键。

Clincal and pathological studies on myotonic dystrophy

Objective To describe the clinical and pathology features of myotonic dystrophy(MD)to enhance the diagnosis level of MD Methods Electromyogram(EMG),muscle biopsy,brain MRI,sero-enzyme,blood biochemistry were performed in 2 MD patients Results Two MD patients were chronic progressive Muscle weakness and muscular atrophy were the main manifestations and associated with hair rarefaction,cataracta,heart block and other multisystem lesion Absent myotonia complain in clinic,but spontaneous myotonic discharges was shown on EMG Muscle pathology found increased number of central nuclei,clumps of pycnotic nuclei and line like nuclei Conclusion MD is rare inherited disease,main clinical features are muscle weakness and myotonia associated with multisystem lesions But myotonia is often absent in clinic,so it is easy to result in misdiagnosis The key of diagnosis is early performance of EMG to find subclinic myotonia and further muscle biopsy examination