Evidence map›Paper›PMID 38454488›Full record

ArticleOrphanet journal of rare diseases2024

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

Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong, Yan Chen, Lijun Luo, Xueli Chang, Junhong Guo, Yiqi Wang and 12 more

Registry-linked trialOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06101940 (A Multicenter, Prospective, Observational Cohort Study of Multi-System Involvement and Disability-Related Clinical Outcomes in Chinese Patients With Myotonic Dystrophy Type 1), which is not on this map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 39% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT06101940 enrolling by invitationnot on this map

A Multicenter, Prospective, Observational Cohort Study of Multi-System Involvement and Disability-Related Clinical Outcomes in Chinese Patients With Myotonic Dystrophy Type 1 (C-DMCOS-DM1)

Typeobservational_patient_registrySponsorHuashan HospitalRan2021 to 2035Enrolled1,000ConditionsMyotonic Dystrophy 1ArmsMRI scan, Electrocardiography, Pulmonary function test, Electrocardiography and 24-hour Holter monitoring, Skeletal muscle biopsy (residual specimen)
3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 14 institutions in 1 country.

Huahua Zhong *Huashan Rare Disease Center and Department of Neurology, Huashan Hospital, National Center for Neurological Disorders, Fudan University, Shanghai, China.
Li Zeng *Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Sichuan, China.
Xuefan YuDepartment of Neurology and Neuroscience Center, The First Affiliated Hospital of Jilin University, Jilin, China.
Qing KeDepartment of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, China.
Jihong DongDepartment of Neurology, Zhongshan Hospital Fudan University, Shanghai, China.
Yan ChenDepartment of Neurology, Tongji Hospital, Tongji University, Shanghai, China.
Lijun LuoDepartment of Neurology, Wuhan No.1 Hospital, Huazhong University of Science and Technology, Hubei, China.
Xueli ChangDepartment of Neurology, The First Hospital of Shanxi Medical University, Shanxi, China.
Junhong GuoDepartment of Neurology, The First Hospital of Shanxi Medical University, Shanxi, China.
Yiqi WangDepartment of Neurology, Zhejiang Provincial People's Hospital, Hangzhou Medical College, Zhejiang, China.
Hui XiongDepartment of Pediatrics, Peking University First Hospital, Beijing, China.
Rongrong LiuDepartment of Neurology, Shaoxing Second Hospital, Zhejiang, China.
Changxia LiuDepartment of Neurology, Yancheng First People's Hospital, Jiangsu, China.
Jibao WuDepartment of Neurology, Chenzhou First People's Hospital, Hunan, China.
Jie LinHuashan Rare Disease Center and Department of Neurology, Huashan Hospital, National Center for Neurological Disorders, Fudan University, Shanghai, China.
Jianying XiHuashan Rare Disease Center and Department of Neurology, Huashan Hospital, National Center for Neurological Disorders, Fudan University, Shanghai, China.
Wenhua ZhuHuashan Rare Disease Center and Department of Neurology, Huashan Hospital, National Center for Neurological Disorders, Fudan University, Shanghai, China.
Song TanDepartment of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Sichuan, China.
Fuchen LiuDepartment of Neurology, Qilu Hospital, Shandong University, Shangdong, China.
Jiahong LuHuashan Rare Disease Center and Department of Neurology, Huashan Hospital, National Center for Neurological Disorders, Fudan University, Shanghai, China.
Chongbo ZhaoHuashan Rare Disease Center and Department of Neurology, Huashan Hospital, National Center for Neurological Disorders, Fudan University, Shanghai, China. zhao_chongbo@fudan.edu.cn.
Sushan LuoHuashan Rare Disease Center and Department of Neurology, Huashan Hospital, National Center for Neurological Disorders, Fudan University, Shanghai, China. luosushan@fudan.edu.cn.ORCID 0000-0002-9033-7568
Fudan University · CNShanxi Medical University · CNUniversity of Electronic Science and Technology of China · CNChenzhou First People's Hospital · CNFirst Affiliated Hospital Zhejiang University · CNJilin University · CNNantong University · CNPeking University · CNQilu Hospital of Shandong University · CNShaoxing Second Hospital · CNSun Yat-sen University · CNTongji University · CNWuhan No.1 Hospital · CNZhejiang Provincial People's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAs 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.

methodsBased 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.

resultsAmong 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.

conclusionThe 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.

Indexed as

Disorders of Excessive SomnolenceMyotoniaMyotonic DystrophyAdolescentAdultAgedChildCohort StudiesFatigueFemaleHumansMaleMiddle AgedMulticenter Studies as TopicRetrospective StudiesYoung Adult

Identifiers

PMID38454488
PMCPMC10918885
OpenAlexW4392561320

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.