Natural History and Biospecimen Repository for Dystonia

Status: Recruiting

Study Summary

Please Note: The Rare Diseases Clinical Research Network 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.


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. A natural history study is designed to determine how a disorder starts, how it may change over the years, and how it influences the life of the person who has it.

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. To help discover these causes, samples of genetic material or other tissues must be examined from patients who have the condition. A repository (or biobank) is a collection of samples given by patients to help researchers find the responsible genes. Because dystonia is so rare, it may take decades for individual researchers to collect enough samples to study on their own. A collective effort by many investigators who agree to share these precious materials is essential for making progress more rapidly. The repository will serve as a valuable resource for generations of future researchers.

Each patient who participates will have a full assessment for dystonia and be asked to come back for return visits at either 1, 2 or 4 year intervals. Each patient will also be asked to complete questionnaires regarding psychological state to assess impact on regular life activities. Lastly, a blood sample will be collected and stored at a central site to share among many researchers doing genetic studies.

This study is being done to address the following questions:

  • If dystonia progresses over time, how fast and what are the common patterns of progression?
  • Do all of the dystonias progress with the same speed and pattern?
  • How commonly does dystonia disappear, and how often does it come back?
  • How does dystonia impact mood and other psychological aspects, and how do mood and other psychological aspects impact dystonia?
  • How does dystonia impact normal daily life, and especially quality of life?
  • What genes might be involved in the development of dystonia?

About this Study

This is a longitudinal study of patients with isolated dystonias (used to be called primary) including cervical dystonia (also called torticollis), blepharospasm/craniofacial dystonia, spasmodic dysphonia (also called laryngeal dystonia), limb dystonias, generalized dystonia, myoclonus dystonia, and dopa-responsive dystonia. We hope to recruit a total of about 400 patients each year. This study has been ongoing since 2010 and current plans are for it to last another 3 years. There may be an opportunity to extend the study in the future, and patients may drop out early if they wish. Each participant will be asked to do the following:

  • Provide a copy of all prior medical records relating to the diagnosis of dystonia.
  • Have an examination by a neurologist and sometimes other medical specialists to evaluate the features and extent of dystonia either every 1, 2 or 4 years. The examinations will be video recorded to allow comparisons across the years.
  • Have a neuropsychological or psychiatric evaluation to assess mood and other psychological factors once per year. The goal is to determine how frequent such problems are, and how they may impact quality of life.
  • Give a sample of blood (about 4 tablespoons) that will be stored for future studies of genes and other biomarkers.

Information about the clinical problems for each patient will be stored along with their donated samples for many years, so that researchers may access them for future studies. However, the names of each patient and any identifying information such as phone numbers will not be given to these researchers.

Targeted Enrollment

To be eligible to participate, you must:

  • Have one of the following types of isolated dystonia or have myoclonus dystonia or dopa-responsive dystonia
    • Cervical dystonia (sometimes called torticollis)
    • Blepharospasm or craniofacial dystonia (sometimes called Meige syndrome)
    • Oromandibular dystonia (sometimes called jaw or lingual dystonia)
    • Spasmodic dysphonia (sometimes called laryngeal dystonia)
    • Dystonia of the hand or foot (examples include writer’s cramp, musician’s dystonia, or other “occupational cramps”)
    • Segmental dystonia (any combination of the above)
    • Generalized dystonia (Many body regions affected)
    • Hemi-dystonia (half of body affected)
  • Be 18 years of age or older

You are not eligible to participate if:

  • You have combined or complex dystonia (used to be called secondary)
  • You are less than 18 years old

How to participate:

In order to participate in a study, you must personally 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.

View the list of Participating Clinical Centers >

Coordinating Centers

  • Washington University School of Medicine, St. Louis, MO
    Contact: L. Jo Wright,Clinical Research Coordinator
    Phone: 314-362-7148

  • Emory University, Atlanta, GA
    Contact: Gamze Kilic Berkmen, PhD
    Phone: 404-727-3381