Evidence map›Paper›PMID 41739307›Full record

Observational studyJournal of patient-reported outcomes2026

Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience.

Wenjing Ji, Yifei Zhao, Yuqiang Kang, Zikai He, Linkai Xu, Sundus Shukar, Ailiyaer Aikepaier, Xinyue Chen, Qifang He, Minghui Zeng and 7 more

Registry-linked trialAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Journal of patient-reported outcomes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06517498 (Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy), which is not on this map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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.

NCT06517498 unknown statusnot on this map

Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy

TypeobservationalSponsorXi'an Jiaotong UniversityRan2024 to 2025Enrolled300ConditionsMuscular Dystrophy, FacioscapulohumeralArmsNo Intervention
3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

Wenjing JiCenter for Drug Safety and Policy Research, Xi'an Jiaotong University, Shaanxi, China.
Yifei ZhaoCenter for Drug Safety and Policy Research, Xi'an Jiaotong University, Shaanxi, China.
Yuqiang KangSchool of Pharmacy, Xi'an Jiaotong University, Shaanxi, China.
Zikai HeChinese Organization for Rare Disorders, Hangzhou, Zhejiang, China.
Linkai XuSchool of Pharmacy, Xi'an Jiaotong University, Shaanxi, China.
Sundus ShukarCenter for Drug Safety and Policy Research, Xi'an Jiaotong University, Shaanxi, China.
Ailiyaer AikepaierChinese Organization for Rare Disorders, Hangzhou, Zhejiang, China.
Xinyue ChenDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Qifang HeDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Minghui ZengDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Yuhua LinDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Minting LinDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Huxinigeer MaimaitiCenter for Drug Safety and Policy Research, Xi'an Jiaotong University, Shaanxi, China.
Tingting LiuSchool of Pharmacy, Xi'an Jiaotong University, Shaanxi, China.
Linguo LiChinese Organization for Rare Disorders, Hangzhou, Zhejiang, China.
Zhiqiang WangDepartment of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China. fmuwzq@fjmu.edu.cn.
Yu FangCenter for Drug Safety and Policy Research, Xi'an Jiaotong University, Shaanxi, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFacioscapulohumeral muscular dystrophy (FSHD) is a rare, autosomal dominant disorder that adversely affects life expectancy and health-related quality of life. There is a paucity of comprehensive research on FSHD, particularly within the Chinese population. This study aims to explore how FSHD affects this population.

methodsThe study employed a convergent parallel mixed-methods design, consisting of a quantitative study and a qualitative study. The quantitative phase involved a cross-sectional online survey conducted between March and October 2024. The self-administered questionnaire includes demographic characteristics, patient diagnosis process, disease progression, treatment, quality of life, mental health, and unmet needs. For the qualitative study, four researchers conducted thirty-three semi-structured, in-depth online interviews with FSHD patients. Patients with clinically and genetically confirmed FSHD were recruited nationwide through the FSHD Community Network-a patient-led advocacy organization affiliated with the Chinese Organization for Rare Disorders (CORD). The study is registered at ClinicalTrials.gov (identifier: NCT06517498). Interviews were audio-recorded, transcribed, and analyzed using thematic analysis with NVivo software.

resultsThis study examined the physical, psychological, and economic burden, as well as the quality of life, of patients with FSHD. Diagnostic delay was common, with an average diagnostic timeline of 9.8 years and a misdiagnosis rate of 57%. Significant familial clustering posed considerable challenges, with as many as 23 patients reporting over five family members exhibiting FSHD-related symptoms. More than 70% of patients indicated that the disease moderately to severely impacted their lives, ranging from sleep to daily activities. Moderate-to-severe anxiety and depression were reported by nearly half and 69.6% of participants, respectively. The mean EQ-5D-5L utility index was 0.542, and the median Visual Analog Scale score was 50. Participants prioritized the following unmet needs: approval of FSHD-targeted medications, access to assistive devices, psychological support, employment opportunities, and a more accommodating social environment.

conclusionsThe findings highlight a substantial disease burden and significant unmet needs among FSHD patients. Early diagnosis, approval of targeted therapies, and comprehensive support from families, healthcare systems, and society are imperative. These measures are essential to improve health outcomes and quality of life for this patient population.

Indexed as

Cost of IllnessMuscular Dystrophy, FacioscapulohumeralPatient Reported Outcome MeasuresQuality of LifeAdultAgedChinaCross-Sectional StudiesFemaleHumansMaleMiddle AgedQualitative ResearchSurveys and QuestionnairesYoung AdultDisease burdenFacioscapulohumeral muscular dystrophyPatient-reported outcomesQualitative researchQuantitative study

Identifiers

PMID41739307
PMCPMC13038818

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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.