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Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

All Diseases > Dystonia

Dystonia

Alternative Names: Torsion Dystonias

Disease Category: Dystonias

A large group of movement disorders causing uncontrollable, sometimes painful, involuntary muscle contractions, resulting in repetitive shaking, turning, and twisting of affected body parts. The dystonias often are classified according to the part of the body affected. Focal dystonias involve an isolated body region. Several common patterns include involvement of the neck in cervical dystonia (torticollis), the periocular regions (blepharospasm or craniofacial dystonia), the larynx (spasmodic dysphonia), or a limb (eg, writer’s cramp). Segmental dystonias involve two or more contiguous body regions. Multifocal dystonias involve two or more non-contiguous body regions. The generalized dystonias exhibit broader involvement of many regions.

Research groups studying this disease

Dystonias
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Dystonia Coalition (DC)

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Recruiting

This research includes four related projects each having different but overlapping goals. The first three projects, Natural History, Objective Measures, and Biobank, go together because they are related. The Patient-Centered Outcomes project is optional and depends on the type of dystonia you have and its treatment. 1. Natural History Project: The aim of this observational project is to better characterize the heterogeneity of clinical manifestations among subjects with dystonia, how these manifestations evolve over time, and how they relate to other family members. 2. Objective Measures Project: The aim of this project is to exploit technological advances for the development of objective tools to measure the severity of dystonia. 3. Biobank Project: The aim of this project is to develop a resource that expands the existing dystonia DNA biorepository to include other biomaterials. To date, no large multi-center open-access biorepository exists for any type of dystonia. 4. Patient-Centered Outcomes Project: The aim of this project is to delineate both between-subject and within-subject variations over time in response to the standard of care treatment with Botulinum toxin (BoNT) injections.

Promotes the search for the cause, a cure, and treatments for benign essential blepharospasm and other related disorders and infirmities of the facial musculature.

Supports dystonia patients, increases awareness, and facilitates research with the aim of seeking better treatments, prevention, and a cure.

Improves quality of life for people living with dystonia in Europe and supports the search for a cure.

Promotes scientific research into the causes and treatments of dystonia, raises awareness, and offers support and information to patients and families.

Works to find a cure and serve people affected by dystonia and their families.

Advances research, promotes awareness and education, and supports the needs and well-being of individuals and families affected by dystonia.

Provides a pathway to support, information, literature, and community awareness for those affected by dystonia and their caregivers.

Dysphonia International, formerly the National Spasmodic Dysphonia Association (NSDA), is dedicated to improving the lives of people affected by spasmodic dysphonia and related voice conditions by finding answers through research, building understanding through education and awareness, and raising hope through support for those living with these challenging vocal disorders.

Supports the needs and well-being of individuals with torticollis and their families through awareness, education, and advancement of research.

Works to advance research for a cure, discover effective treatments, and promote awareness and education of DYT1 dystonia.

The mission of BEAT DYSTONIA is to encourage and fund scientific research for advanced treatments and ultimately, a cure for dystonia; personally advocate for those living with dystonia and their families and finally, to tirelessly raise awareness about dystonia in mainstream worldwide media. Beat Dystonia operates with zero overhead. 

Dystonia UK is the only national charity in the United Kingdom dedicated to helping people living with dystonia. They provide support for people with dystonia and their families through the publication of information and updates, influencing national policies and best practice, supporting research and development, and raising awareness of the little-known condition.