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.
© 2026. The Author(s).