Clinical Research Article

Patient-reported disease burden in oculopharyngeal muscular dystrophy

Nicolette S. Kurtz BA

Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico

Claudia Cote RD, MS

Centre de recherche Charles-Le Moyne–Saguenay-Lac-Saint-Jean sur les innovations en santé, Sherbrooke University, Sherbrooke, Québec, Canada

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Chad Heatwole MD,

Chad Heatwole MD

Department of Neurology, University of Rochester, Rochester, New York

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Cynthia Gagnon OT, PhD,

Cynthia Gagnon OT, PhD

Centre de recherche Charles-Le Moyne–Saguenay-Lac-Saint-Jean sur les innovations en santé, Sherbrooke University, Sherbrooke, Québec, Canada

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Sarah Youssof MD, MS,

Corresponding Author

Sarah Youssof MD, MS

[email protected]

Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico

Correspondence

Sarah Youssof, Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131.

Email: [email protected]

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Nicolette S. Kurtz BA,

Nicolette S. Kurtz BA

Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico

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Claudia Cote RD, MS,

Claudia Cote RD, MS

Centre de recherche Charles-Le Moyne–Saguenay-Lac-Saint-Jean sur les innovations en santé, Sherbrooke University, Sherbrooke, Québec, Canada

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Chad Heatwole MD,

Chad Heatwole MD

Department of Neurology, University of Rochester, Rochester, New York

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Cynthia Gagnon OT, PhD,

Cynthia Gagnon OT, PhD

Centre de recherche Charles-Le Moyne–Saguenay-Lac-Saint-Jean sur les innovations en santé, Sherbrooke University, Sherbrooke, Québec, Canada

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Sarah Youssof MD, MS,

Corresponding Author

Sarah Youssof MD, MS

[email protected]

Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico

Correspondence

Sarah Youssof, Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131.

Email: [email protected]

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First published: 18 September 2019

https://doi.org/10.1002/mus.26712

Citations: 8

Funding information: Fonds de Recherche du Québec - Santé, Grant/Award Number: 31011

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Abstract

Introduction

There is currently little evidence regarding oculopharyngeal muscular dystrophy (OPMD) disease burden reported by patients. In this study we aim to elicit direct patient input regarding OPMD disease burden.

Methods

We conducted semistructured interviews with 25 participants with genetically confirmed OPMD and a wide range of disease duration (15 ± 8 years). Using the Framework Technique, themes and categories were then extracted.

Results

Analyses revealed 7 themes (physical impact, mental impact, social impact, perception of progression, treatment perceptions, coping strategies, and access to disease information), encompassing 27 categories of OPMD disease burden. The most frequent categories were related to dysphagia, coping strategies for dysphagia, and impaired mobility.

Discussion

This study demonstrates the importance of considering, when providing clinical care, the broad range of coping strategies patients use to deal with OPMD symptoms, especially dysphagia, to properly assess limitations and monitor real disease progression.

CONFLICT OF INTEREST

The authors declare no potential conflicts of interest.

Supporting Information

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Citing Literature

Volume60, Issue6

December 2019

Pages 724-731

Filename	Description
mus26712-sup-0001-TableS1.rtfWord document, 19.7 KB	TABLE S1 Interview guide
mus26712-sup-0002-TableS2.rtfWord document, 707.6 KB	TABLE S2 Complete index of themes, categories, codes, and quote counts
mus26712-sup-0003-DataS1.rtfWord document, 25.9 KB	DATA S1 Additional quotes illustrating the themes.

Patient-reported disease burden in oculopharyngeal muscular dystrophy

Abstract

Introduction

Methods

Results

Discussion

CONFLICT OF INTEREST

Supporting Information

REFERENCES

Citing Literature

References

Information

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Patient-reported disease burden in oculopharyngeal muscular dystrophy

Abstract

Introduction

Methods

Results

Discussion

CONFLICT OF INTEREST

Supporting Information

REFERENCES

Citing Literature

References

Related

Information