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目的探讨强直性肌营养不良(DM)的发病机制、临床和病理特点。方法回顾分析并总结6例DM患者临床和病理资料。结果 6例患者,均为男性,年龄8～43岁。均有不同程度的肌紧张、肌强直,叩击有明显肌球。1例患者其爷爷奶奶为姑舅亲结婚,2例有脱发;1例伴有智力障碍、吞咽困难及讲话不清;2例有张口费力,EMG均示肌源性改变,可见肌强直电位发放;肌活检光镜下可见肌纤维大小不等,不同程度的肌纤维萎缩,未见明显再生肌纤维,部分小角纤维、变性及坏死肌纤维,典型核内移、核聚集、链状核;少数NADH、SDH、COX染色酶活性呈局限性增高或减低,ATP酶染色可见肌纤维群组化,其中1例以I型肌纤维占优势;1例Ⅱ型肌纤维有群组化趋势。结论 (1)骨骼肌活检病理检查对该病诊断及鉴别有辅助诊断价值;(2)强直性肌营养不良临床表现多样,需注意除骨骼肌病变以外的其他表现:如内分泌异常等;(3)DM确诊需进一步进行基因检测。
Objective To investigate the pathogenesis, clinical and pathological features of myotonic dystrophy (DM). Methods The clinical and pathological data of 6 DM patients were retrospectively analyzed and summarized. Results 6 patients, all male, aged 8 to 43 years. There are different degrees of muscle tension, muscle rigidity, percussion obvious muscle ball. 1 patient had grandparents marry her uncle, 2 had hair loss; 1 patient had mental retardation, difficulty swallowing and speech was unclear; 2 patients had mouth pains, EMG showed myogenic changes, showing the myotonic potential release; Muscle fibers ranged in muscle biopsy, with varying degrees of muscle fiber atrophy, no obvious regenerated myofibers, some small angle fibers, degenerative and necrotic muscle fibers, typical nuclear transitions, nuclear aggregates and catenary nuclei; a few NADH, SDH, COX Staining enzyme activity showed a limited increase or decrease, ATPase staining showed muscle fiber group, of which 1 case of type I muscle fiber dominant; 1 case of type II muscle fiber grouping trend. Conclusions (1) Skeletal muscle biopsy pathological diagnosis of the disease diagnosis and differential diagnosis; (2) The clinical manifestations of myotonic dystrophy, pay attention to other than skeletal muscle disease other than performance: such as endocrine abnormalities; (3) ) DM confirmed the need for further genetic testing.