Rare Hematology News

Disease Profile

Cervical dystonia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Spasmodic torticollis

Categories

Musculoskeletal Diseases; RDCRN

Summary

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), anticholinergicsphysical therapy, or surgery.[2][4]

Cause

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]

Organizations

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

    Learn more

    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.

        References

        1. Dystonias Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 1, 2016; https://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; https://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.

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