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目的探讨强直性肌营养不良(DM)的临床表现和病理改变。方法通过1例确诊的DM病例的临床表现和神经肌肉的病理改变来系统回顾本病的发病机理、分类、临床表现、病理改变、诊断和治疗。结果该例患者的临床表型和肌肉病理改变符合DM1型,腓肠神经主要病理改变为轴索变性,伴有轻度脱髓鞘。结论DM是一组遗传性疾病,临床表现为骨骼肌萎缩、力弱、强直和多种骨骼肌以外的症状,可伴有以轴索变性为主的周围神经损害。
Objective To investigate the clinical manifestations and pathological changes of myotonic dystrophy (DM). Methods The pathogenesis, classification, clinical manifestations, pathological changes, diagnosis and treatment of this disease were systematically reviewed through the clinical manifestations and neuromuscular pathological changes of one confirmed DM. Results The clinical phenotype and muscle pathological changes of this patient were consistent with DM1. The main pathological changes of the sural nerve were axonal degeneration with mild demyelination. Conclusion DM is a group of hereditary diseases. The clinical manifestations include skeletal muscle atrophy, weakness, rigidity and symptoms other than skeletal muscle, which may be associated with peripheral nerve damage with axonal degeneration.