We have received information from ERN-RND – European Reference Network for Rare Neurological Diseases on a survey only for patients that are diagnosed with Myoclonus dystonia that have a confirmed mutation in the SGCE gene, and their families.
We are very grateful if you would please share this among your members and as soon as possible, since the survey responses must be done by 31 October.
Here is the detailed information:
Survey Myoclonus dystonia – confirmed mutation in the SGCE gene.
DE is part of ERN-RND – European Reference Network for Rare Neurological Diseases. One of the working groups is focused on dystonia.
Doctors Belén Pérez Dueñas and Maria Vanegas of the Peadiatric Neurology department of Vall d’Hebron Barcelona Hospital in Spain have developed a survey designed for families and patients with Myoclonus Dystonia Syndrome and they are looking for participants from all over Europe.
To clarify, that the survey is designed for patients with Myoclonus Dystonia Syndrome and mutation in epsilon-sarcoglycan (SGCE or DYT11) gene, so just to fill out by patients that have a confirmed mutation in the SGCE gene.
Survey responses must be done by 31 October and here is link for the survey in different languages: