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目的 研究强直性肌营养不良 (DM)的临床与病理变化。方法 总结 3例 DM的临床特点 ,并对肌活检标本进行光镜和电镜检查。结果 3例 DM患者 ,年龄 2 5～ 40岁。临床特点为缓慢进行的四肢无力 ,肌强直发作。腱反射迟钝对称。前额秃发。EMG示肌源性损害 ,可见肌强直发放。肌活检光镜下可见肌纤维萎缩 ,肌核内移呈核链形成 ,肌纤维横纹尚存 ,晚期可见脂肪细胞浸润 ;电镜下可见肌纤维变性、溶解 ,Z带破坏 ,线粒体肿胀、变性。结论 DM的肌肉病理与临床表现相关 ,临床表现愈重 ,肌肉损害愈明显。近年来认为 DM是 DMPK基因 3,非翻译区 CTG三核苷酸异常重复扩增所致。
Objective To study the clinical and pathological changes of myotonic dystrophy (DM). Methods The clinical features of 3 cases of DM were summarized, and the muscle biopsy specimens were examined by light and electron microscopy. Results 3 cases of DM patients, aged 25 ~ 40 years old. Clinical features of slow limb weakness, muscle rigidity attack. Tendon reflex symmetry. Forehead bald hair. EMG showed myogenic damage, showing muscle rigidity release. Muscle fiber atrophy was observed under the muscle biopsy, and the nucleus was formed in the muscle nucleus. The muscle fibers existed in the transverse stripes and the adipocytes infiltrated in the late stage. The muscle fiber degeneration, dissolution, Z band destruction and mitochondria swelling and degeneration were seen under the electron microscope. Conclusion DM muscle pathology and clinical manifestations related to the more clinical manifestations, the more obvious muscle damage. In recent years, that DM is DMPK gene 3, untranslated region CTG trinucleotide abnormal amplification caused by repeated.