Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe

Abstract

Improved care for people with dystonia presents a number of challenges. Major gaps in knowledge exist with regard to how to optimize the diagnostic process, how to leverage discoveries in pathophysiology into biomarkers, and how to develop an evidence base for current and novel treatments. These challenges are made greater by the realization of the wide spectrum of symptoms and difficulties faced by people with dystonia, which go well-beyond motor symptoms. A network of clinicians, scientists, and patients could provide resources to facilitate information exchange at different levels, share mutual experiences, and support each other's innovative projects. In the past, collaborative initiatives have been launched, including the American Dystonia Coalition, the European Cooperation in Science and Technology (COST—which however only existed for a limited time), and the Dutch DystonieNet project. The European Reference Network on Rare Neurological Diseases includes dystonia among other rare conditions affecting the central nervous system in a dedicated stream. Currently, we aim to broaden the scope of these initiatives to a comprehensive European level by further expanding the DystoniaNet network, in close collaboration with the ERN-RND. In line with the ERN-RND, the mission of DystoniaNet Europe is to improve care and quality of life for people with dystonia by, among other endeavors, facilitating access to specialized care, overcoming the disparity in education of medical professionals, and serving as a solid platform to foster international clinical and research collaborations. In this review, both professionals within the dystonia field and patients and caregivers representing Dystonia Europe highlight important unsolved issues and promising new strategies and the role that a European network can play in activating them.

Dystonia

“… 15 Prompt recognition is often limited by a lack of knowledge among medical professionals. 1 Part of the difficulty is that no reliable diagnostic test exists for dystonia, and routine brain imaging is unremarkable. In the future, kinematic, neurophysiological, and imaging tools are likely to be available to assist decisions about diagnosis.…”

“…It is a highly stigmatising long term condition associated with a reduced quality of life. 1 Management is a multidisciplinary partnership between general practitioners, specialists, therapists, and patients and seeks to alleviate motor and non-motor symptoms and the wider psychosocial repercussions of dystonia. This practice pointer highlights the common forms of dystonia, flags rarer causes which can have significant repercussions if not recognised, and offers a clinical roadmap for patient management.…”

Dystonia management across Europe within ERN-RND: current state and future challenges

“…Because of this, many physicians may be unfamiliar with the disease and diagnosis can be challenging [ 5 ]. This may lead to delay in diagnosis and treatment, which can intensify detrimental effects of dystonia on the health-related quality of life (HRQoL) [ 6 – 8 ]. Previous evaluations on the quality of dystonia management found that it did not reach the required level and therefore provided several recommendations to improve dystonia-care [ 9 ].…”

“…Guidelines for dystonia have been developed, and the Clinical Patient Management System (CPMS), an IT platform to discuss patient cases with an expert panel, has been established. In addition, ERN-RND is closely collaborating with DystoniaNet Europe, a network with similar aims to improve dystonia-care [ 6 ].…”

Increased Knowledge of Adult-Onset Dystonia Amongst Medical Students via Brief Video Education: A Systematic Review and Cohort Study

“…The ‘Dystonia Europe’ collaboration has found that healthcare professionals’ limited knowledge of dystonia is a major contributing factor to diagnostic delays [ 16 ]. One study found that only 10% of patients referred to a movement disorders clinic had been given a working diagnosis of dystonia in primary care and in approximately 1/3rd of cases, general practitioners had initially referred patients to a non-neurologist [ 17 ].…”