National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cervical dystonia


Other Names:
Spasmodic torticollis
Categories:
Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia). Most commonly, the head turns to one side or the other. Tilting sideways, or to the back or front may also occur.[1][2] The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.[2] Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years.[1] The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3.[3] Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications.[4][5] Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics, physical therapy, or surgery.[2][4]
Last updated: 11/30/2016
Cervical dystonia may be classified as "primary" or "secondary." Primary dystonia refers to dystonia with no clear identifiable cause and is referred to as idiopathic. In primary dystonia, there is no known structural abnormality in the central nervous system, and no underlying disease present. Primary cervical dystonia is associated with a hereditary component in approximately 12% of cases, and it may possibly be linked to previous neck injury.[5]

Secondary dystonia occurs as a consequence or symptom of an underlying abnormality or disease (e.g. Parkinson disease) and has a clear cause which can be inherited or acquired.[5][4] It may be linked to the use of certain medications (e.g. neuroleptics), excessive toxin ingestion (e.g. in carbon monoxide poisoning), or structural lesions due to trauma (primarily of the basal ganglia).[5]
Last updated: 4/4/2017

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cervical dystonia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • National Organization for Rare Disorders (NORD) has Disease-Specific Assistance Programs designed to help patients with out-of-pocket costs such as monthly insurance premiums or deductibles. In addition, some programs may provide financial assistance for additional expenses related to a patient's diagnosis such as travel to see a specialist.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The Dystonia Medical Research Foundation offers an information page on Cervical dystonia. Please click on the link to access this resource.
  • Mayo Clinic has an information page on Cervical dystonia.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manual provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Cervical dystonia.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cervical dystonia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Dystonias Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 1, 2016; http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm.
  2. Cervical Dystonia. Dystonia Coalition. https://www.rarediseasesnetwork.org/cms/dystonia/Learn-More/Disorder-Definitions. Accessed 11/30/2016.
  3. Comella CL. Cervical Dystonia. NORD. 2016; https://rarediseases.org/rare-diseases/cervical-dystonia/.
  4. Kruer MC. Torticollis. Medscape Reference. July 8, 2016; http://emedicine.medscape.com/article/1152543-overview#a4.
  5. Patel S, Martino D. Cervical dystonia: from pathophysiology to pharmacotherapy. Behav Neurol. 2013; 26(4):275-282.