Collaborating with the Dystonia Coalition

The Dystonia Coalition is a collaboration of medical researchers and patient advocacy groups supported by the Office of Rare Diseases Research in the National Center for Advancing Translational Sciences and The National Institute of Neurological Disorders and Stroke at the NIH. We are more than 40 participating centers distributed throughout North America and Europe. The Dystonia Coalition has an open-door policy in which new investigators and institutions may join the effort at any time. Each of these centers may participate in ongoing research projects, submit proposals for new projects, or nominate candidates for career development awards.

The Dystonia Coalition will focus initially on the isolated dystonias (previously called primary dystonias) including cervical dystonia, spasmodic dysphonia, blepharospasm, craniofacial dystonia, generalized, and limb dystonias. Main clinical studies involve many clinical centers and focus on specific goals.

  • Natural History Study of Isolated Dystonia. The goal of this study is to get a fuller understanding of how the different forms of dystonia may change over time. Patients with any of the isolated dystonias will be evaluated carefully at specific intervals to reveal any changes that may occur over time. A blood sample for the Biorepository for Isolated Dystonia will be collected from subjects in this Natural History study at the outset for genetic and other studies. (Open for enrollment)
  • Biorepository for Isolated Dystonia. The goal of this study is to build a large collection of DNA samples for genetic studies of patients with isolated dystonia. (Open for enrollment)
  • Diagnostic and Rating Tools for Blepharospasm. The goal of this study is to validate clinical movement rating and severity scales for blepharospasm and to develop a screen and self-completed quality of life scale.
  • Comprehensive Evaluation Tools for Cervical Dystonia. The goal of this study is to refine a clinical rating scale for the many different aspects of cervical dystonia. The new scale will address the movement disorder, pain, psychological correlates, functional disability, and overall quality of life. This scale is intended to be useful for monitoring progression and responses to treatments in clinical trials. (Completed)
  • Comprehensive Evaluation Tools for Spasmodic Dysphonia. The goal of this study is to develop and test a novel rating scale that can be used to diagnose the disorder and measure its severity. This scale is intended to help physicians more quickly and accurately diagnose spasmodic dysphonia, and to help monitor responses to treatments in clinical trials. (Completed)

In addition to the five large studies outlined above, the Dystonia Coalition will also encourage the development of new studies and investigators relevant to dystonia, promote education and awareness of dystonia, and assist patients in finding state-of-the-art information and expert providers.

  • Projects Utilizing Dystonia Coalition Resources. The resources collected in the Dystonia Coalition’s five large studies are available for further research inquiries. Several pilot projects and career development award projects have utilized these resources. In addition, these data are available for ad hoc research projects. 
  • Promoting education and awareness. Our centers are active in promoting education and awareness among colleagues and other medical provides, and in the community. We regularly help to organize and participate in regional and international meetings. See News and Events for some of our recent and upcoming events.
  • Assist in connecting patients with expert providers. Although our primary mission is research, we also want to assist patients and their families in connecting with the best medical providers. Those in need may contact any one of our sites directly. Our Patient Advocacy Groups can also facilitate finding skilled medical providers.

Contact our Program Coordinator

Gamze Kilic-Berkmen, PhD
Dystonia Coalition Contact
Emory University Department of Neurology
Atlanta GA, 30322