Dystonia Coalition Projects-3 (DCP3)

Status: ACTIVE

What is Dystonia

Dystonia is characterized by excessive pulling of muscles leading to twisting movements or abnormal postures. Patients with dystonia can have virtually any part of their bodies affected. Patients can be grouped according to which part of the body is affected. Most patients fall into the group of focal dystonias, where a single part of the body is affected.

Some have segmental dystonia, where two or more regions next to each other in the body are affected. A few have generalized dystonia, in which many body regions are affected. There are many potential causes for dystonia. In most patients, a cause cannot be found. Some patients get dystonia because of an inherited predisposition, such as a change in their genes. Other patients get dystonia because of something that happened to them during their lives, such as being exposed to a chemical or infection, having an injury, or engaging in a specific activity. In most patients, experts believe the cause is a combination of inheritance and life events.

What is the Dystonia Coalition

The Dystonia Coalition, a part of the Rare Diseases Clinical Research Network, is an international collaboration of medical researchers and patient advocacy groups with a mission to advance the pace of clinical and translational research in the dystonias to find better treatments and a cure.

What is the purpose of this research?

This research includes four related projects each having different but overlapping goals. The Natural History (NH), Objective Measures (OM), and Biobank (BB) projects go together because they are related. The Patient-Centered Outcomes (PCO) project is optional and depends on the type of dystonia you have and its treatment.

  • The aim of the NH Project is to learn more about how dystonia may progress over time and what causes dystonia
  • The aim of the OM project is to develop tools to measure the severity of symptoms objectively.
  • The aim of the BB project is to create a collection of blood samples for analysis.
  • The aim of the PCO project is to develop an app to monitor symptom severity.

Who can participate in the NH-OM-BB Projects?

  • You must be diagnosed with one of the following isolated dystonias:
    1. Focal dystonia, including:
      1. Cranial dystonia/Meige Syndrome (including blepharospasm)
      2. Jaw or tongue dystonia
      3. Laryngeal dystonia (including spasmodic dysphonia) with diagnosis confirmed by nasolaryngoscopy
      4. Cervical dystonia (spasmodic torticollis)
      5. Limb dystonia (including writer’s cramp and musician’s dystonia)
    2. Segmental or multifocal dystonia
    3. Generalized dystonia
    4. Hemi-dystonia
  • Your last injection of botulinum toxin should be at least 2 months prior to study visit.

Who can participate in the PCO Project?

  • You must have one of the isolated focal dystonias including cervical dystonia, blepharospasm, or laryngeal dystonia
  • You must be 18 years or older
  • You must agree to participate in NH-OM-BB studies
  • You must be fluent in English
  • You must complete questionnaires on a hand-held device, such as smartphone

What is expected of the participants of NH-OM-BB Projects?

  • Answer questions about medical and family history and current state of mind
  • Have a neurological exam that will be video recorded
  • Donate a blood sample
  • Consider coming back every few years for check-up
  • Consider spending about 1 hour during each study visit

What is expected of the participants of PCO Project?

  • Answer health-related questions on a hand-held electronic device, such as smartphone
  • Have a neurological exam that will be video recorded
  • Come back for follow-ups approximately 7-8 times over a period of about one year

How to participate:

In order to participate in a study, you must contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

  • Coordinating Center
    Emory University, Atlanta, GA
    Contact: Gamze Kilic-Berkmen, PhD, Program Manager
    Phone: 404-727-3381
    E-mail: dystoniacoalition@emory.edu
We will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.