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目的探讨强直性肌营养不良(DM)的临床特点,以提高对DM疾病的认识及诊断水平。方法对一DM家系确诊的5例患者临床资料进行收集及回顾性分析,包括患者基本资料、临床表现、血液生化、心电图、肌电图及肌肉活检等。结果 5例DM患者均为慢性病程,以肌强直、肌无力、肌萎缩为主要表现,伴有眼部、心脏、内分泌和生殖、神经等多系统损害如白内障、心律失常、脱发、阳痿、习惯性流产、智能减退等,血清肌酶轻度增高或正常,肌电图具有特征性肌强直放电和肌源性损害,肌肉活检呈非特异性肌病特征。结论 DM是一种以肌强直、肌无力、肌萎缩为主要表现的多系统损害的遗传性疾病,临床表现复杂多样,识别DM的临床特点有助于提高对其诊断水平。
Objective To investigate the clinical features of Myotonic dystrophy (DM) in order to improve the understanding and diagnosis of DM. Methods The clinical data of 5 patients diagnosed by a DM family were collected and retrospectively analyzed, including basic information, clinical manifestations, blood biochemistry, electrocardiogram, electromyography and muscle biopsy. Results The 5 DM patients were all chronic disease. Their main symptoms were muscle rigidity, muscle weakness and muscle atrophy. They were associated with multiple system damages such as cataract, arrhythmia, hair loss, impotence, habit Abortion, such as mental retardation, serum creatinine slightly increased or normal, EMG has characteristic myotonic discharge and myogenic damage, muscle biopsy was non-specific myopathy characteristics. Conclusion DM is a multi-system disease with myotonia, muscle weakness and muscular atrophy as the main manifestations. The clinical manifestations are complex and diverse. The clinical features of DM may be helpful to improve its diagnosis.