详情页 - 聚合机构库演示平台

当前位置：首页 > 详情页

Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1

128| 认领 | 导出 | 链接全文 |

文献详情

资源类型：

WOS体系：

Pubmed体系：

收录情况： ◇ SCIE

作者：

单位： [1]Huashan Rare Disease Center and Department of Neurology, HuashanHospital, National Center for Neurological Disorders, Fudan University,Shanghai, China [2]Department of Neurology, Sichuan Provincial People’sHospital, University of Electronic Science and Technology of China, Sichuan,China [3]Department of Neurology and Neuroscience Center, The First AfliatedHospital of Jilin University, Jilin, China [4]Department of Neurology, The FirstAfliated Hospital, Zhejiang University School of Medicine, Zhejiang, China [5]Department of Neurology, Zhongshan Hospital Fudan University, Shanghai,China [6]Department of Neurology, Tongji Hospital, Tongji University, Shanghai,China [7]Department of Neurology, Wuhan No.1 Hospital, Huazhong Universityof Science and Technology, Hubei, China [8]Department of Neurology, The FirstHospital of Shanxi Medical University, Shanxi, China [9]Department of Neurology, Zhejiang Provincial People’s Hospital, Hangzhou Medical College,Zhejiang, China [10]Department of Pediatrics, Peking University First Hospital, Beijing, China [11]Department of Neurology, Shaoxing Second Hospital,Zhejiang, China [12]Department of Neurology, Yancheng First People’s Hospital,Jiangsu, China [13]Department of Neurology, Chenzhou First People’s Hospital,Hunan, China [14]Department of Neurology, Qilu Hospital, Shandong University,Shangdong, China

出处：

DOI：

ISSN：

摘要：

As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are still lacking. This study aims to analyze the genetic and clinical characteristics of Chinese Han DM1 patients.Based on the multicenter collaborating effort of the Pan-Yangtze River Delta Alliance for Neuromuscular Disorders, patients with suspected clinical diagnoses of DM1 were genetically confirmed from January 2020 to April 2023. Peak CTG repeats in the DMPK gene were analyzed using triplet repeat-primed PCR (TP-PCR) and flanking PCR. Time-to-event analysis of onset age in females and males was performed. Additionally, detailed clinical features and longitudinal changes from the disease onset in 64 DM1 patients were retrospectively collected and analyzed. The Epworth Sleepiness Scale and Fatigue Severity Scale were used to quantify the severity of daytime sleepiness and fatigue.Among the 211 genetically confirmed DM1 patients, the mean age at diagnosis was 40.9 ± 12.2 (range: 12-74) with a male-to-female ratio of 124:87. The average size of CTG repeats was 511.3 (range: 92-1945). Among the DM1 patients with comprehensive clinical data (n = 64, mean age 41.0 ± 12.0), the age at onset was significantly earlier in males than in females (4.8 years earlier, p = 0.026). Muscle weakness (92.2%), myotonia (85.9%), and fatigue (73.4%) were the most prevalent clinical features. The predominant involved muscles at onset are hands (weakness or myotonia) (52.6%) and legs (walking disability) (42.1%). Of them, 70.3% of patients had daytime sleepiness, 14.1% had cataract surgery, 7.8% used wheelchairs, 4.7% required ventilatory support, and 1.6% required gastric tubes. Regarding the comorbidities, 4.7% of patients had tumors, 17.2% had diabetes, 23.4% had dyspnea, 28.1% had intermittent insomnia, 43.8% experienced dysphagia, and 25% exhibited cognitive impairment. Chinese patients exhibited smaller size of CTG repeats (468 ± 139) than those reported in Italy (613 ± 623), the US (629 ± 386), and Japan (625 [302, 1047]), and milder phenotypes with less multisystem involvement.The Chinese Han DM1 patients presented milder phenotypes compared to their Caucasian and Japanese counterparts. A male predominance and an early age of onset were identified in male Chinese Han DM1 patients.© 2024. The Author(s).

基金：

语种：

WOS：

PubmedID：

中科院(CAS)分区：

出版当年[2023]版：

大类 | 2 区

医学

小类 | 2 区遗传学 2 区医学：研究与实验

最新[2025]版：

大类 | 2 区医学

小类 | 2 区遗传学 2 区医学：研究与实验

JCR分区：

出版当年[2022]版：

Q2 GENETICS & HEREDITY Q3 MEDICINE, RESEARCH & EXPERIMENTAL

最新[2024]版：

Q2 GENETICS & HEREDITY Q2 MEDICINE, RESEARCH & EXPERIMENTAL

影响因子： 3.5 最新[2024版] 4 最新五年平均 3.7 出版当年[2022版] 4.4 出版当年五年平均 4.302 出版前一年[2021版] 3.4 出版后一年[2023版]

第一作者：

第一作者单位： [1]Huashan Rare Disease Center and Department of Neurology, HuashanHospital, National Center for Neurological Disorders, Fudan University,Shanghai, China

共同第一作者：

通讯作者：

推荐引用方式(GB/T 7714)：

APA：

MLA：