Validation of the Quality of Life Questionnaire and the IBM Functional Rating Scale In

Validation of the Quality of Life Questionnaire and the IBM Functional Rating Scale in VCP-Associated Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

Mariam Mostamand

Mentor: Virginia Kimonis

Inclusion Body Myopathy associated with Paget’s disease of bone (PDB) and Frontotemporal dementia (FD), or IBMPFD, is an autosomal dominant disorder caused by mutations in the VCP (Vacuole Causing Protein) gene located on chromosome 9. The disorder results in progressive proximal muscle weakness in approximately 90% of individuals, painful bone disease in 50% of individuals, typically in their 50s, and progressive frontotemporal dementia in approximately 30% of individuals in their 50s. The Quality of Life questionnaire (QoL) looks into how those with symptoms of IBMPFD are affected by analyzing how diet and exercise affect the symptoms, and how these symptoms affect each person’s quality of life. The IBM Functional Rating Scale was developed for Inclusion Body Myositis patients and has questions based on swallowing, handwriting, handling utensils, motor tasks and other physical abilities. The overall purpose of this study is to validate the QoL as a comprehensive disease-specific rating scale for patients with IBMPFD. This study as two aims: to compare the QoL responses in affected, asymptomatic gene carriers and unaffected individuals, and validation of the QoL using the previously validated IBMRS. The QoL was distributed through mailers, and the IBMFRS was conducted via SurveyMonkey. I hypothesize that unaffected patients will have a better quality of life than affected patients, and that the presymptomatic gene carriers will also have a reduced quality of life. The results of both the Quality of Life questionnaire and the IBMFRS will be analyzed for validation of the QoL, and the results will be compared in the three groups of individuals.