Abstract

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal postures, repetitive movements, or both. Research in dystonia has been challenged by several factors. First, dystonia is uncommon. Dystonia is not a single disorder but a family of heterogenous disorders with varied clinical manifestations and different causes. The different subtypes may be seen by providers in different clinical specialties including neurology, ophthalmology, otolaryngology, and others. These issues have made it difficult for any single center to recruit large numbers of subjects with specific types of dystonia for research studies in a timely manner. The Dystonia Coalition is a consortium of investigators that was established to address these challenges. Since 2009, the Dystonia Coalition has encouraged collaboration by engaging 56 sites across North America, Europe, Asia, and Australia. Its emphasis on collaboration has facilitated establishment of international consensus for the definition and classification of all dystonias, diagnostic criteria for specific subtypes of dystonia, standardized evaluation strategies, development of clinimetrically sound measurement tools, and large multicenter studies that document the phenotypic heterogeneity and evolution of specific types of dystonia.

Highlights

  • TO DYSTONIADystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal postures, repetitive movements, or both [1]

  • The dystonias are a rare and very heterogeneous group of disorders. They have a profound impact on quality of life, and existing treatments all have significant limitations

  • The majority of studies by the DC have focused on clinical trial readiness

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Summary

INTRODUCTION

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal postures, repetitive movements, or both [1]. There already are some treatments that have broad efficacy across many clinically and etiologically distinct subtypes, such as anticholinergics, botulinum toxins, and DBS These observations have encouraged attempts to identify the mechanisms that are shared across multiple types of dystonia. By developing anticholinergics with more selective effects on the relevant muscarinic receptors in the striatum, it may be possible to avoid the many side effects that arise from non-specific blockade of receptors in the cortex or autonomic system Another common theme has involved abnormalities of neuronal excitability or neural plasticity among individuals with different types of dystonia [37]. The main needs have included developing a better understanding of the phenotypic heterogeneity and evolution of various types of dystonia, more precise and widely accepted diagnostic criteria, appropriate measurement tools to monitor patients in clinical trials, and identification of useful biomarkers. DBS, deep brain stimulation; GABA, gamma-amino butyric acid; VMAT2, vesicular monoamine transporter type 2

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