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.
Subject(s)
Muscular Dystrophy, Oculopharyngeal/physiopathology , Muscular Dystrophy, Oculopharyngeal/psychology , Access to Information , Adaptation, Psychological , Adolescent , Adult , Aged , Attitude to Health , Body Dysmorphic Disorders , Child , Cost of Illness , Deglutition Disorders/etiology , Deglutition Disorders/physiopathology , Disease Progression , Female , Humans , Male , Middle Aged , Mobility Limitation , Muscle Weakness/etiology , Muscle Weakness/physiopathology , Muscular Dystrophy, Oculopharyngeal/complications , Muscular Dystrophy, Oculopharyngeal/therapy , Pain/etiology , Pain/physiopathology , Patient Reported Outcome Measures , Psychological Distress , Qualitative Research , Social Participation , Voice Disorders/etiology , Voice Disorders/physiopathology , Work Performance , Young AdultABSTRACT
Research on oculopharyngeal muscular dystrophy focuses mainly on genetic and pathophysiological aspects. Clinically, oculopharyngeal muscular dystrophy is often considered as a disease with a relatively mild initial disease course with no or only mild functional disabilities. However the occurrence of fatigue, pain and functional impairments other than dysphagia has never been studied systematically. The aim of this study is therefore to assess the prevalence of fatigue, pain, and functional limitations, and the social participation and psychological well-being of oculopharyngeal muscular dystrophy patients. We performed a questionnaire study on fatigue, pain, functional impairments, social participation and psychological distress in 35 genetically confirmed oculopharyngeal muscular dystrophy patients with an average disease duration of 11.6 years. We showed that 19 (54%) of the patients experienced severe fatigue and also 19 (54%) experienced pain. Limitations in daily life activities and social participation were detected in 33 (94%) of the patients. Many patients reported pelvic girdle weakness and limitations in ambulation. Fatigue severity was related to functional impairments, while pain and disease duration were not. Psychological distress was not different from healthy adults. In conclusion, fatigue and pain are present among approximately half of the patients, and almost all patients are impaired in daily life activities, social participation and ambulation. These data should be taken into account in symptomatic management of oculopharyngeal muscular dystrophy.
Subject(s)
Activities of Daily Living , Fatigue/epidemiology , Muscular Dystrophy, Oculopharyngeal/epidemiology , Muscular Dystrophy, Oculopharyngeal/psychology , Pain/epidemiology , Adult , Aged , Female , Humans , Male , Middle Aged , Muscle Weakness/epidemiology , Netherlands , Social Participation , Surveys and QuestionnairesABSTRACT
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant form of late-onset muscular dystrophy. Ptosis (droopy eyelids) and dysphagia (difficulty swallowing) are the most common presenting symptoms. The purpose of this phenomenological study was to describe the experience of living with OPMD. Purposeful sampling was used to recruit individuals with genetically confirmed OPMD who displayed ptosis and dysphagia, were 40 years or older, English speaking, and were willing to consent to the tape-recording of the interviews. An unstructured interview format was used to solicit the participants' perspectives of living with droopy eyelids, difficulty swallowing, and a genetic disorder. The interviews were audiotaped and transcribed verbatim. Colaizzi's Method was used to analyze the data, which identified five comprehensive themes. The themes that emerged describing the experience of living with OPMD were "Adjusting to Change", "Managing Misconceptions", "Seeking Normality", "Facing the Future", and "Informing Children". The information derived from this study will assist nurses to identify the burdens of living with OPMD and to intervene appropriately early in the course of the disease.
