The relationship between physical symptoms and health‐related quality of life in oculopharyngeal muscular dystrophy

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 Short Form-36 (SF-36) was completed by 89 participants in the US 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. Discussion 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.

Dysphagia‐related quality of life in oculopharyngeal muscular dystrophy: Psychometric properties of the SWAL‐QOL instrument

“…A subset of consecutive registry participants was concurrently administered the Neuro‐QoL Lower Extremity Function Short Form (Neuro‐QoL) as a PRO measure of mobility . Only individuals classified as definite OPMD by clinical or genetic criteria were included, as previously described . Because many items in the SWAL‐QOL are worded with reference to “your swallowing problem,” we excluded individuals who denied dysphagia at the time of survey administration.…”

Patient‐reported disease burden in oculopharyngeal muscular dystrophy

“…Many of our participants discussed surgical interventions, a cornerstone of OPMD management . The majority of OPMD patients eventually undergo blepharoptosis surgery at least once, and about 30% undergo invasive treatments to ameliorate dysphagia at least once . It is therefore not surprising that attitudes toward these treatments were discussed by participants.…”

“…Oculopharyngeal muscular dystrophy (OPMD) is a rare, progressive muscle disease caused by a short triplet‐repeat expansion in the PABPN1 gene that leads to late‐onset ptosis, dysphagia, and proximal limb weakness . Additional symptoms include a variety of domains such as vision, swallowing, limb strength, and psychosocial health …”

The requirement for a disease‐specific patient‐reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy

“…In addition, many questionnaires contain irrelevant items or “others” items related to domains such as social functioning, sleep, and general health that seem not relevant to patients with OPMD in the context of dysphagia. Although dysphagia severity in OPMD has been associated with these domains, fatigue and impairment of lower extremity physical function may also play roles . Because it may be difficult to isolate the contribution of dysphagia in these domains, we believe that only specific symptoms in the clinical assessment should be considered in a PRO for dysphagia in OPMD.…”

“…Coping strategies are also adopted by patients in social contexts, such as eating before going to a restaurant . Health‐related quality of life is significantly impacted by the worsening of dysphagia …”