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Facial plastic surgery & aesthetic medicine · 2026

Facial Weakness in Facioscapulohumeral Muscular Dystrophy: Objective and Patient-Reported Measures to Guide Reconstructive Interventions.

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Berges Alexandra J, Renne Angela, Heaton Jeffrey, Leung Doris G, Boahene Kofi D O

Аннотация

INTRODUCTION: Facial palsy in facioscapulohumeral muscular dystrophy (FSHD) significantly affects function and quality-of-life.

OBJECTIVE: To measure facial palsy burden in FSHD and assess its relationship to patient-reported outcomes and treatment-seeking behavior.

METHODS: In a cross-sectional study, adults with FSHD completed FACE-Q (a validated patient-reported instrument assessing perceived facial appearance, function, and quality-of-life). A subset underwent objective facial movement analysis with DynaFace analysis software. Group differences in FACE-Q scores were compared between participants with/without facial symptoms (Student's T-test), and Pearson correlations linked objective metrics to FACE-Q domains.

RESULTS: Among 191 respondents (mean age 52 ± 16.5 years), those with facial symptoms (n = 105) reported lower FACE-Q scores for smile, lips, appearance distress, and facial movement (p < 0.001). Participants who sought treatment reported greater appearance-related distress (p < 0.001), yet overall treatment use was low, with 48% receiving eye care and 1% undergoing surgery. Objective analysis demonstrated reduced eye closure and diminished smile dynamics; abnormalities in dental display and commissure excursion correlated with worse FACE-Q scores.

CONCLUSION: Objective facial assessments revealed marked facial movement deficits in FSHD and were closely aligned with lower FACE-Q scores, implicating the functional and aesthetic burden of facial palsy in FSHD.