机构：[1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, P.R. China[2]Department of Neurosurgery, Wayne State University School of Medicine, MI, USA
This study aims to investigate clinical characteristics of 37 Chinese patients with Myotonic dystrophy Type 1 (DM1).
Main clinical features of these cases were analyzed, with a focus on multi-system involvements.
The median age of onset was 21.5 years, with a range from 3 to 45 years. Fourteen patients had a family history positive for DM1, whereas the other 23 were sporadic cases. Twenty-seven of the patients were male. The primary symptoms were myotonia and weakness with varying multi-system involvement including cardiac defects, cataracts, sleep disturbances, cholecystopathy, and peripheral neuropathy.
This is the first report in China with the diagnosis of DM1 decisively confirmed by CTG expansion testing. Data from our study suggest that Chinese DM1 cases have different clinical characteristics compared with those of Caucasian cases, especially the prevalence of cardiac defects, cataracts, and sleep disturbances.
基金：
This work was supported by the grants from the National
Science Foundation of China (No. 81071000), the Beijing
Natural Science Foundation Program and Scientific
Research Key Program of Beijing Municipal Commission of
Education (No. KZ201410025023), the National Science and
Technology Pillar Program during the 12th Five‑year Plan
Period (No. 2013BAI07B01), and Xuanwu Hospital Foundation
Program.
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2015]版：
无
最新[2023]版：
大类|4 区医学
小类|4 区临床神经病学4 区神经科学
第一作者：
第一作者机构：[1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, P.R. China
通讯作者：
推荐引用方式(GB/T 7714)：
Hui Lu,Yun Li,Mordechai Sadowsky,et al.Clinical characteristics of 37 Chinese patients with myotonic dystrophy Type 1.[J].Brain circulation.2016,2(2):95-98.doi:10.4103/2394-8108.186282.
APA：
Hui Lu,Yun Li,Mordechai Sadowsky&Yuwei Da.(2016).Clinical characteristics of 37 Chinese patients with myotonic dystrophy Type 1..Brain circulation,2,(2)
MLA：
Hui Lu,et al."Clinical characteristics of 37 Chinese patients with myotonic dystrophy Type 1.".Brain circulation 2..2(2016):95-98
