PO096 Myoclonus dystonia: bnsu surveillance project

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Abstract

Myoclonus Dystonia (MD) is a hereditary movement disorder characterised by upper limbs and trunk myoclonus, and dystonia of the neck and hands. A proportion of MDS cases are due to a mutation in the epsilon sarcoglygan gene (SGCE). Myoclonus Dystonia is one of the projects registered with the British Neurological Surveillance Unit (BNSU). All Association of British Neurologists (ABN) members may report MD cases seen in routine clinical practice via the monthly electronic alert process. Alerts are sent to our research group, enabling us to forward on details of the research project. During 2016 14 MD cases were identified via the BNSU electronic alert system, with 10 of these individuals making contact with the movement disorders research team in Cardiff, seeking to enrol in the Welsh Movement Disorders Research Network (Move Wales) research programme. Our main research interests involve characterising the non-motor phenotype of SGCE-mutation positive MD and collecting biological samples to identify underlying disease mechanisms. We have received funding from the Dystonia Medical Research Foundation (DMRF) and the Brown Family Foundation to act as the lead centre in a web-based international study of non-motor symptoms in MD. We will be actively recruiting to this project over the coming year.

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