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

Area of Science:

• Neurology
• Musculoskeletal Disorders
• Patient-Reported Outcomes

Background:

• Facial palsy in facioscapulohumeral muscular dystrophy (FSHD) substantially impairs patient function and quality of life.
• Understanding the burden of facial palsy in FSHD is crucial for developing targeted interventions.

Purpose of the Study:

• To quantify the burden of facial palsy in individuals with FSHD.
• To examine the relationship between objective facial function measures, patient-reported outcomes (PROs), and treatment-seeking behaviors in FSHD.

Main Methods:

• A cross-sectional study involving 191 adults with FSHD.
• Participants completed the FACE-Q questionnaire for perceived facial function, appearance, and quality of life.
• Objective facial movement analysis using DynaFace software was performed on a subset, with correlations to FACE-Q scores.

Main Results:

• Individuals with facial symptoms reported significantly lower FACE-Q scores for smile, lips, appearance distress, and facial movement (p < 0.001).
• Objective analysis showed reduced eye closure and smile dynamics; dental display and commissure excursion abnormalities correlated with poorer FACE-Q scores.
• Despite significant appearance distress, treatment utilization was low, with only 1% undergoing surgery.

Conclusions:

• Objective facial assessments in FSHD reveal significant movement deficits that align closely with reduced patient-reported quality of life.
• The functional and aesthetic impact of facial palsy in FSHD is substantial, underscoring the need for improved management strategies.