Liesanne M. Centen,#1,2 David Pinter,#3 Martje E. van Egmond,1,2 Holm Graessner,4 Norbert Kovacs,3 Anne Koy,5Belen Perez-Dueñas,6 Carola Reinhard,4 Marina A. J. Tijssen,1,2 and Sylvia Boesch7
Since the first European-wide evaluation of dystonia management in 2016, several efforts have been made to improve dystonia-care. One of these was the development of the Dystonia Disease Group as a part of the European Reference Network for Rare Neurological Diseases (ERN-RND) that implemented several initiatives based on the recommendations made in 2016.
To evaluate the current state of dystonia management across Europe.
Twenty-four countries were surveyed via 62 dystonia experts from 44 ERN-RND related centers.
Dystonia experts for adult patients were available in all surveyed countries. However, almost half of the countries evaluated accessibility as merely ‘satisfactory’. Access to genetic and neurophysiological testing was challenging to varying degrees in over half of the countries.
Main oral medications and botulinum toxin were available in all countries. Deep brain stimulation (DBS) was easily accessible in one-third of the countries. Dystonia research was conducted in 20/24 countries. Training on dystonia for general practitioners (GPs) was available in 11/24 countries. However, lack of training for other professionals was almost common. For paediatric dystonia, experts and specific training were available in over half of the countries.
In this overview, we present the current state of dystonia management within ERN-RND. Management has slightly improved since 2016 in several fields, including diagnostics, availability of DBS, and research. The results highlight that future challenges in dystonia management are accessibility of experts, diagnostic tools and treatments, education on adult and childhood dystonia, and optimization of referral pathways. These findings are important for improving dystonia care across Europe.
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