Socioeconomic costs and health-related quality of life associated with oculopharyngeal muscular dystrophy
13 affiliations
- 1The Ottawa Hospital Research Institute, Ottawa, ON, Canada
- 2School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada
- 3Université Claude Bernard Lyon Est, Lyon, France
- 4Hôpital Neurologique de Lyon, Hospices Civils de Lyon, Lyon, France
- 5PGNM, Institut Neuromyogène, CNRS UMR 5261 - INSERM U1315, Lyon, France
- 6Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada
- 7Muscular Dystrophy Canada, Toronto, ON, Canada
- 8Department of Medicine (Neurology), The Ottawa Hospital/University of Ottawa, Ottawa, ON, Canada
- 9Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada
- 10Department of Clinical Neurosciences, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada
- 11Department of Medical Genetics, Cumming School of Medicine, Alberta Child Health Research Institute, University of Calgary, Calgary, AB, Canada
- 12Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, QC, Canada
- 13British Columbia Children’s Hospital, Vancouver, BC, Canada
Abstract
Background: Oculopharyngeal muscular dystrophy (OPMD) is a progressive genetic neuromuscular disease. OPMD substantially impacts quality of life by limiting swallowing, decreasing mobility and can cause death by choking. We conducted this study to quantify the burden of OPMD from the patient perspective. These data are needed to inform cost-effectiveness studies for treatments in development and to inform public policy.
Methods: As part of the national Burden of Inherited and Inflammatory Neuromuscular Disease study survey, Canadians with OPMD were asked about the impact of OPMD on their health-related quality of life (Health Utilities Index Mark 3; HUI3), employment status, household finances, productivity (Work Productivity and Activity Impairment questionnaire), and out-of-pocket costs for assistive equipment and healthcare to help manage OPMD. Sociodemographic and epidemiological data were used to extrapolate participant responses into an estimate of the total patient-borne cost of OPMD for Canada.
Results: Health-related quality of life was low in OPMD (n = 139, mean age 66 ± 10 years, 52% female) with HUI3 scores of 0.398 ± 0.323, compared to 0.826 for the normative population. Low HUI3 scores were associated with higher costs for assistive equipment and greater financial hardship. 29% of respondents with OPMD were in paid employment compared to 41% in the normative population. Impairments in total work productivity and non-work activity were 32 ± 27% and 61 ± 29%, respectively. Paid employment was associated with greater access to private insurance (odds ratio 4.2) which was in turn positively associated with the likelihood of visiting allied healthcare providers (odds ratio 2.5). The total patient-borne cost of OPMD for Canada was estimated to be $78.4 million (2026 Canadian dollars). Indirect costs accounted for 84% of the total; 53% for non-work activity impairment, 18% for loss of earning capacity, 12% for presenteeism and 2% for absenteeism. Direct costs comprised 16% of the total; 7% for healthcare visits and 9% for assistive equipment.
Discussion: OPMD imposes substantial direct and indirect economic burden, primarily due to impact on work and productivity and less on equipment or health professional costs. The high indirect costs of OPMD should be a consideration in economic evaluations and future health policy decisions for emerging therapeutic interventions.
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- Chronic Inflammation, Fibrotic Remodeling, and Regenerative Failure in Duchenne Muscular Dystrophy: Mechanisms and Therapeutic Opportunities
- Clinical Trial Landscape of Duchenne Muscular Dystrophy in Europe: A 10-Year Retrospective Analysis
BibTeX
@article{smith2026socioeconomic,
title = {{Socioeconomic costs and health-related quality of life associated with oculopharyngeal muscular dystrophy}},
author = {Ian C. Smith and Alyssa Grant and Lola E. R. Lessard and Homira Osman and Fien Oelbrandt and Hanns Lochmüller and Hugh J. McMillan and Gerald Pfeffer and Lawrence Korngut and Cynthia Gagnon and Stacey Lintern and Katherine A. Selby and Ari Breiner and Kednapa Thavorn and Jodi Warman-Chardon},
journal = {Frontiers in Public Health},
year = {2026},
month = oct,
doi = {10.3389/fpubh.2026.1918801},
url = {https://doi.org/10.3389/fpubh.2026.1918801},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Socioeconomic costs and health-related quality of life associated with oculopharyngeal muscular dystrophy
AU - Ian C. Smith
AU - Alyssa Grant
AU - Lola E. R. Lessard
AU - Homira Osman
AU - Fien Oelbrandt
AU - Hanns Lochmüller
AU - Hugh J. McMillan
AU - Gerald Pfeffer
AU - Lawrence Korngut
AU - Cynthia Gagnon
AU - Stacey Lintern
AU - Katherine A. Selby
AU - Ari Breiner
AU - Kednapa Thavorn
AU - Jodi Warman-Chardon
PY - 2026
DA - 2026/10/12
JO - Frontiers in Public Health
DO - 10.3389/fpubh.2026.1918801
UR - https://doi.org/10.3389/fpubh.2026.1918801
AB - Background: Oculopharyngeal muscular dystrophy (OPMD) is a progressive genetic neuromuscular disease. OPMD substantially impacts quality of life by limiting swallowing, decreasing mobility and can cause death by choking. We conducted this study to quantify the burden of OPMD from the patient perspective. These data are needed to inform cost-effectiveness studies for treatments in development and to inform public policy. Methods: As part of the national Burden of Inherited and Inflammatory Neuromuscular Disease study survey, Canadians with OPMD were asked about the impact of OPMD on their health-related quality of life (Health Utilities Index Mark 3; HUI3), employment status, household finances, productivity (Work Productivity and Activity Impairment questionnaire), and out-of-pocket costs for assistive equipment and healthcare to help manage OPMD. Sociodemographic and epidemiological data were used to extrapolate participant responses into an estimate of the total patient-borne cost of OPMD for Canada. Results: Health-related quality of life was low in OPMD (n = 139, mean age 66 ± 10 years, 52% female) with HUI3 scores of 0.398 ± 0.323, compared to 0.826 for the normative population. Low HUI3 scores were associated with higher costs for assistive equipment and greater financial hardship. 29% of respondents with OPMD were in paid employment compared to 41% in the normative population. Impairments in total work productivity and non-work activity were 32 ± 27% and 61 ± 29%, respectively. Paid employment was associated with greater access to private insurance (odds ratio 4.2) which was in turn positively associated with the likelihood of visiting allied healthcare providers (odds ratio 2.5). The total patient-borne cost of OPMD for Canada was estimated to be $78.4 million (2026 Canadian dollars). Indirect costs accounted for 84% of the total; 53% for non-work activity impairment, 18% for loss of earning capacity, 12% for presenteeism and 2% for absenteeism. Direct costs comprised 16% of the total; 7% for healthcare visits and 9% for assistive equipment. Discussion: OPMD imposes substantial direct and indirect economic burden, primarily due to impact on work and productivity and less on equipment or health professional costs. The high indirect costs of OPMD should be a consideration in economic evaluations and future health policy decisions for emerging therapeutic interventions.
SN - 2296-2565
ER -