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

Wenjing Ji^{1

2}, Yifei Zhao^{1

2}, Yuqiang Kang³, Zikai He⁴, Linkai Xu³, Sundus Shukar^{1

2}, Ailiyaer Aikepaier⁴, Xinyue Chen⁵, Qifang He⁵, Minghui Zeng⁵, Yuhua Lin⁵, Minting Lin^{5

6}, Huxinigeer Maimaiti^{1

2}, Tingting Liu³, Linguo Li⁴, Zhiqiang Wang^{7

8}, Yu Fang^{1

2}

Affiliations

¹ Center for Drug Safety and Policy Research, Xi'an Jiaotong University, Shaanxi, China.
² Department of Pharmacy Administration, School of Pharmacy, Xi'an Jiaotong University, Shaanxi, China.
³ School of Pharmacy, Xi'an Jiaotong University, Shaanxi, China.
⁴ Chinese Organization for Rare Disorders, Hangzhou, Zhejiang, China.
⁵ Department 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.
⁶ National Regional Medical Center, Department of Neurology, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350212, China.
⁷ Department 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.
⁸ National Regional Medical Center, Department of Neurology, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350212, China. fmuwzq@fjmu.edu.cn.

PMID: 41739307
DOI: 10.1186/s41687-026-01026-z

Free article

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

Wenjing Ji et al. J Patient Rep Outcomes. 2026.

Free article

. 2026 Feb 25.

doi: 10.1186/s41687-026-01026-z. Online ahead of print.

Authors

Affiliations

¹ Center for Drug Safety and Policy Research, Xi'an Jiaotong University, Shaanxi, China.
² Department of Pharmacy Administration, School of Pharmacy, Xi'an Jiaotong University, Shaanxi, China.
³ School of Pharmacy, Xi'an Jiaotong University, Shaanxi, China.
⁴ Chinese Organization for Rare Disorders, Hangzhou, Zhejiang, China.
⁵ Department 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.
⁶ National Regional Medical Center, Department of Neurology, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350212, China.
⁷ Department 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.
⁸ National Regional Medical Center, Department of Neurology, Binhai Campus of the First Affiliated Hospital, Fujian Medical University, Fuzhou, 350212, China. fmuwzq@fjmu.edu.cn.

PMID: 41739307
DOI: 10.1186/s41687-026-01026-z

Abstract

Background: Facioscapulohumeral 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.

Methods: The 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.

Results: This 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.

Conclusions: The 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.

Keywords: Disease burden; Facioscapulohumeral muscular dystrophy; Patient-reported outcomes; Qualitative research; Quantitative study.

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Conflict of interest statement

Declarations. Ethical approval: This study was reviewed and approved by the Medicine Biomedical Ethics Committee of Xi’an Jiaotong University (approval no. 2013). We registered this study in the US National Library of Medicine clinical trials database (http://clinicaltrials.gov) on July 23, 2024, under registration no. NCT06517498. Consent to participate: We collected written consent from participants who agreed to take part in the survey and interviews. Participants were fully informed about the purpose of the study, the nature of their participation, and their right to withdraw at any time without consequence. All procedures followed the ethical guidelines approved by the relevant Ethics Committee. Consent for publication: The informed consent was obtained from all participants. Competing interests: None of the authors has any conflict of interest to disclose.

References

1. Tawil R, Van Der Maarel SM (2006) Facioscapulohumeral muscular dystrophy. Muscle Nerve 34(1):1–15
1. Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G et al (2009) Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 75(6):550–555
1. Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E et al (2014) Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 83(12):1056–1059
1. Kilmer DD, Abresch RT, McCrory MA, Carter GT, Fowler WM Jr., Johnson ER et al (1995) Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil 74(5 Suppl):S131–S139
1. Wang Z, Qiu L, Lin M, Chen L, Zheng F, Lin L et al (2022) Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study. Lancet Reg Health West Pac 18:100323

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

References

Associated data

LinkOut - more resources

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