Abstract
INTRODUCTION: Oculopharyngeal muscular dystrophy (OPMD) causes ptosis, dysphagia, and limb weakness. Health-related quality of life (HRQoL) and its relationship to physical symptoms was investigated. METHODS: The 36-item Short Form (SF-36) was completed by 89 participants in the U.S. OPMD Registry. Multiple hierarchical regression was used to determine the relative contributions of dysphagia severity and lower extremity functional impairment to the physical (PCS) and mental (MCS) components of the SF-36. RESULTS: HRQoL was reduced in OPMD compared with population norms. Lower extremity functional impairment explained a significant proportion of variance in PCS and MCS. Dysphagia symptom severity explained a moderate amount of variance only in MCS. Dysphagia symptom severity had the strongest associations with general health perception and social functioning domains. CONCLUSIONS: Lower extremity functional impairment in OPMD deserves attention due to its large influence on HRQoL. Both generic and dysphagia-specific measures are necessary to assess HRQoL in OPMD.