1. QUALITY of LIFE AND OCULOPHARYNGEAL MUSCULAR DYSTROPHY Jeanie Krause-Bachand, Wilma J. Koopman, Shannon L. Venance Introduction Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset muscular dystrophy. Progressive ptosis and dysphagia are prominent features with milder proximal limb weakness. Symptom management is the key treatment for these individuals. Malnutrition and aspiration pneumonia account for the majority of deaths. The experiences and quality of life of these individuals have not been addressed. Introduction Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset muscular dystrophy. Progressive ptosis and dysphagia are prominent features with milder proximal limb weakness. Symptom management is the key treatment for these individuals. Malnutrition and aspiration pneumonia account for the majority of deaths. The experiences and quality of life of these individuals have not been addressed. Methods Ten individuals with confirmed OPMD were invited to participate in a two part study researching quality of life. The first part was a qualitative interview, and the results will be presented separately. The second portion of the study quantified the impact of OPMD on quality of life using the Individualized Quality of Life Questionnaire (INQoL) for neuromuscular disease. Methods Ten individuals with confirmed OPMD were invited to participate in a two part study researching quality of life. The first part was a qualitative interview, and the results will be presented separately. The second portion of the study quantified the impact of OPMD on quality of life using the Individualized Quality of Life Questionnaire (INQoL) for neuromuscular disease. Results The mean scores for weakness, locking, pain and fatigue were greater than 50%. Only females reported symptoms of locking. Pain was reported by six respondents. Independence was higher for females (45%) than for males (35%). Fatigue was higher for females (57%) than for males (37%). Age may be a factor in perceived body image. The impact of their muscle disease on activities mean score was 57%. The overall quality of life in this study was high (mean score 30%) therefore OPMD does not appear to negatively influence their reported quality of life. Results The mean scores for weakness, locking, pain and fatigue were greater than 50%. Only females reported symptoms of locking. Pain was reported by six respondents. Independence was higher for females (45%) than for males (35%). Fatigue was higher for females (57%) than for males (37%). Age may be a factor in perceived body image. The impact of their muscle disease on activities mean score was 57%. The overall quality of life in this study was high (mean score 30%) therefore OPMD does not appear to negatively influence their reported quality of life. Conclusions Muscle weakness was the only symptom reported by every respondent. Muscle weakness had the greatest effect on quality of life. Quality of Life was well-preserved in this small sample. Conclusions Muscle weakness was the only symptom reported by every respondent. Muscle weakness had the greatest effect on quality of life. Quality of Life was well-preserved in this small sample. Future Directions A larger sample size and a prospective longitudinal study measuring quality of life would allow further exploration and understanding of the quality of life of individuals with OPMD. Future Directions A larger sample size and a prospective longitudinal study measuring quality of life would allow further exploration and understanding of the quality of life of individuals with OPMD. The authors wish to acknowledge the Marlene Reimer Research Award, Canadian Association of Neuroscience Nurses (CANN) for grant funding Reference Vincent KA, Carr AJ, Walburn J, Scott DL, Rose MR. Construction and validation of a quality of life questionnaire for neuromuscular disease (Insole). Neurology 2007; 68: 1051-1057. Reference Vincent KA, Carr AJ, Walburn J, Scott DL, Rose MR. Construction and validation of a quality of life questionnaire for neuromuscular disease (Insole). Neurology 2007; 68: 1051-1057. Limitations of the Tool No studies are reported to date using the tool in the neuromuscular population, except for tool validation. Scoring and interpretation of the tool is cumbersome. Only one individual perceived surgery as treatment despite many reporting surgery on the demographics form “Locking” is not known to be a symptom of OPMD, therefore the reports of locking in this population are hard to interpret. Limitations of the Tool No studies are reported to date using the tool in the neuromuscular population, except for tool validation. Scoring and interpretation of the tool is cumbersome. Only one individual perceived surgery as treatment despite many reporting surgery on the demographics form “Locking” is not known to be a symptom of OPMD, therefore the reports of locking in this population are hard to interpret. Purpose To determine the quality of life of individuals with OPMD. Purpose To determine the quality of life of individuals with OPMD. Measurement Tool The INQoL is a quality of life tool developed from semi-structured interviews of individuals with muscle disease. Verification of the tool occurred in a larger population by postal survey. The INQoL consists of 45 questions, divided into ten separate sections. A seven- point Likert scale is used. Five sections examine the impact of muscle symptoms, such as weakness, locking, pain, and fatigue. Four focus on the impact muscle disease has on different areas of life and another section deals with the effect of treatments. The composite quality of life is based on scores from the 5 sections assessing impact of neuromuscular disease on particular areas of life. Construct validity, test-retest reliabilty and responsiveness has been evaluated. (Vincent et al 2007). Measurement Tool The INQoL is a quality of life tool developed from semi-structured interviews of individuals with muscle disease. Verification of the tool occurred in a larger population by postal survey. The INQoL consists of 45 questions, divided into ten separate sections. A seven- point Likert scale is used. Five sections examine the impact of muscle symptoms, such as weakness, locking, pain, and fatigue. Four focus on the impact muscle disease has on different areas of life and another section deals with the effect of treatments. The composite quality of life is based on scores from the 5 sections assessing impact of neuromuscular disease on particular areas of life. Construct validity, test-retest reliabilty and responsiveness has been evaluated. (Vincent et al 2007). Limitations of the Study Small sample size Two respondents were from same family, and may have limited the scope of diversity of answers Limitations of the Study Small sample size Two respondents were from same family, and may have limited the scope of diversity of answers Variable Mean Score (%) Range (%) Weakness 65.27 21-95 Locking 51.30 0-100 Pain 54.40 0-84 Fatigue 58.55 0-100 Activities 57.15 6-88 Independence 40.00 6-100 Social 27.51 0-55 Emotions 46.67 6-81 Body Image 38.72 0-94 VariableMean Score (%)Range (%) Weakness 65.2721-95 Locking 51.300-100 Pain 54.400-84 Fatigue 58.550-100 Activities 57.156-88 Independence 40.006-100 Social 27.510-55 Emotions 46.676-81 Body Image 38.720-94 Mean Age (range) yr62.9 (49-73) Gender (Male/Female)5/5 Ethnicity3 French Canadian 4 German 3 Other Age (yr) at onset for dysphagia range)49.7 (30-60) Age (yr) at onset for ptosis (range)51.5 (42-60) Age (yr) at diagnosis (range)54.3 (42-69) Ptosis surgery (n)8 Cricopharyngeal myotomy (n)4 Demographics (n=10)