Successfull international networking event PMA!

All with a collective goal: establishing the phenotype of PMA, create an overview of what is known about the underlying mechanism, to contribute to better treatment options of PMA. Doctors and researchers shared their experiences resulting in fruitful discussions about future perspectives on the field of PMA. Additionally, during the networking event there was a very valuable presentation from the patients perspective. This networking event was made possible by the Network Support Scheme Call from the European Joint Programme (EJP-RND), we are very happy with this support!

Progressive Myoclonus Ataxia is an umbrella term for a condition in which patients suffer from a combination of jerks (myoclonus) and coordination problems (ataxia) in a progressive manner, sometimes also accompanied by epilepsy. Treatment options are limited and aimed at suppression of symptoms, which often is difficult. The cause of PMA is often hereditary, of which a mutation in the GOSR2 gene could be one, which is the cause of the North Sea disease. Other causes of PMA which were addressed included mutations in the KCTD7, SCARB2 and the recently found DHDDS and NUS1 genes. PMA is a regarded a rare disease, which strengthens even more the importance of close international collaboration. The PMA network event consisted of 2 successful days, which is the starting point for international collaboration and research in the field of PMA: On to a PMA consortium!