摘要
目的 探讨强直性肌营养不良Ⅰ型（DM1）一家系的临床特点。方法 收集2009年4~5月就诊于中山大学附属江门市中心医院神经内科的广东顺德均安一强直性肌营养不良家系成员的临床资料。对部分家系成员进行心电图、肌电图及血生化等检查，对先证者行病理分析及基因检测，分析该家系的临床特点。结果 该家系为一典型的DM1家系，存在明显的遗传早现。19例患者中，17例出现肌无力，14例出现肌萎缩，16例出现肌强直，5例合并白内障，7例合并智能减退。受检5例患者均有心电图异常，3例出现肌强直电位及代谢异常。先证者以Ⅰ型肌纤维萎缩为主，抗肌萎缩蛋白完整表达。结论 典型的DM1临床表现多样，除累及骨骼肌外，尚可累及眼睛（晶状体）、心脏（主要是传导系统）及代谢系统等。对于确诊的患者应尽早评估、处理多系统损害，定期随访复查。肌电图及病理结果有助于协助诊断，基因检测有助于确诊及分型。
Objective To explore the clinical features of a family with myotonic dystrophy type 1 （DM1） in order to improve the knowledge of this disease. Methods Clinical data of members from the family were collected. Electrocardiogram （ECG）, electromyogram （EMG） and blood biochemistry were performed in some members of the family. Characteristics of pathology and gene of the propositi were detected. Results Anticipation was found in the family which was verified as DM1. In the all 19 patients, 17 had myasthenia gravis, 14 had muscle atrophy, 16 had myotonia, 5 had complicated with cataract, and 7 had complicated with hypophrenia. The 5 patients accepted ECG all had abnormal results, 3 of them had myotonic discharge and metabolic abnormalities. Pathological analysis showed the main fibers atrophy was type I, and the protein dystrophin expression was completely in the propositi. Conclusions The clinical manifestations of patients are various. DM1 affects eye （the lens）, heart （mainly the conduction system）, reproductive system besides skeletal muscle. Necessary auxiliary examinations and regular follow-up should be performed to evaluate and deal with multisystemic involvement in DM1 patients. EMG and pathological results are helpful in the diagnosis. Gene analysis can verify the disease and identify subclinical patients.
出处
《中华神经医学杂志》
CAS
CSCD
北大核心
2014年第10期1039-1042,共4页
Chinese Journal of Neuromedicine
