Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 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.