THUR 104 Global MD registry and dystonia non-motor symptoms study

Abstract

Myoclonus Dystonia (MD) is a rare hyperkinetic movement disorder with an early childhood onset. Estimates of MD prevalence among European populations places this at 1 in 5 00 000 individuals, however no worldwide estimates currently exist. MD patients experience alcohol-responsive myoclonus predominantly affecting the trunk and upper limbs, and dystonic posturing typically involving the neck and hands (writer’s cramp) but may also involve other parts of the body (e.g. lower limbs and trunk). Individuals with MD also frequently report non-motor symptoms (NMS) such as psychiatric co-morbidity, significant pain that impacts function and daily living, and disturbance to sleep.This study aims to develop a global register of MD patients of all ages, and further characterise the NMS in 500 adult MD patients via validated online psychiatric, sleep and pain questionnaires and cognitive tests. The register will also be used to establish a research hub to direct future research into elucidating disease mechanisms, and develop novel therapeutic targets for MD. The online questionnaires will be developed using the Bristol Online Surveys platform. All data will be encrypted to ensure patient confidentiality, and then analysed using Microsoft Excel and R statistical software package. P values less than 0.05 will be deemed as statistically significant.