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A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China
Sponsor: Huashan Hospital
Summary
Myotonic dystrophy 1 (DM1) is an autosomal, dominantly inherited neuromuscular disorder characterized by skeletal muscle weakness, myotonia, cardiac conduction abnormalities, cataracts, and other abnormalities. This disease results from an expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeat in the 3'-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19. Currently, there is limited phenotype and genotype data available for DM1 patients with Chinese Han ethnicity. Therefore, this study aims to fill this gap and provide complementary data.
Official title: A Multicenter Phenotype-Genotype Analysis of Type 1 Myotonic Dystrophy 1 Patients in China
Key Details
Gender
All
Age Range
18 Years - 80 Years
Study Type
OBSERVATIONAL
Enrollment
500
Start Date
2021-08-01
Completion Date
2032-12-30
Last Updated
2025-09-16
Healthy Volunteers
Yes
Conditions
Interventions
MRI scan
Brain MRI scan to evaluate the integrity of the nervous system; lower limb muscle MRI scan to evaluate fat infiltration in skeletal muscles of the lower limb
Electrocardiography
Standard 12-lead electrocardiography or Holter monitoring performed to assess cardiac conduction abnormalities and arrhythmias in patients with DM1.
Pulmonary function test
Comprehensive pulmonary function testing including spirometry to assess respiratory muscle weakness and restrictive lung disease in DM1 patients.
Locations (22)
Chinese People's Liberation Army General Hospital
Beijing, Beijing Municipality, China
Peking University First Hospital
Beijing, Beijing Municipality, China
First Affiliated Hospital of Chongqing Medical University
Chongqing, Chongqing Municipality, China
Fujian Medical University Union Hospital
Fuzhou, Fujian, China
Southern Hospital of Southern Medical University
Guangzhou, Guangdong, China
The Third Hospital of Hebei Medical University
Shijiazhuang, Hebei, China
Wuhan University People's Hospital
Wuhan, Hubei, China
Zhongda Hospital Southeast University
Nanjing, Jiangsu, China
The First Affiliated Hospital of Soochow University
Suzhou, Jiangsu, China
The First People's Hospital of Yancheng
Yancheng, Jiangsu, China
The First Affiliated Hospital of Nanchang University）
Nanchang, Jiangxi, China
The First Bethune Hospital of Jilin University
Changchun, Jilin, China
Chifeng Municipal Hospital
Chifeng, Neimenggu, China
Qilu Hospital of Shandong University
Jinan, Shandong, China
Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, China
First Hospital of Shanxi Medical University
Taiyuan, Shanxi, China
Xi'an Gaoxin Hospital
Xi’an, Shanxi, China
Xi'an People's Hospital
Xi’an, Shanxi, China
Sichuan Provincial People's Hospital
Chengdu, Sichuan, China
The General Hospital of Western Theater Command
Chengdu, Sichuan, China
Yunnan Provincial People's Hospital
Kunming, Yunnan, China
Huashan Hospital
Shanghai, China