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Disease Profile

Tardive dyskinesia

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

#N/A

ICD-10

#N/A

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)

Linguofacial dyskinesia; Tardive dystonia; Tardive oral dyskinesia;

Categories

Congenital and Genetic Diseases

Summary

Tardive dyskinesia is a neurological movement disorder that is caused by the long-term use of a certain type of medications called neuroleptics. Neuroleptic drugs are usually prescribed for psychiatric conditions, although they may be used to treat gastrointestinal or neurological conditions in some cases.[1] Tardive dyskinesia is primarily characterized by repetitive involuntary movements of the jaw, lips and tongue such as grimacing; sticking out the tongue; and smacking, puckering and pursing the lips. Some affected people may also experience involuntary rapid, jerking movements (chorea) or slow, writhing movements (athetosis) of the arms and/or legs. It is unclear why some people who take neuroleptic medications develop these symptoms while others do not.[2] Treatment for this condition varies but may include stopping or minimizing the use of neuroleptic drugs and/or taking additional medications to to reduce the severity of the symptoms.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Akathisia
0031943
Autosomal recessive inheritance
0000007
Tardive dyskinesia
0040141

Cause

Tardive dyskinesia is caused by the long-term use of certain types of medications called neuroleptics. Neuroleptic drugs are usually prescribed for psychiatric conditions; less commonly, they may be used to treat gastrointestinal or neurological conditions. Tardive dyskinesia usually develops in people who have taken these medications for many years, although some cases may occur with shorter use of the drugs. It is unclear why some people who take neuroleptic medications develop the signs and symptoms of tardive dyskinesia while others do not.[1][2]

Diagnosis

A diagnosis of tardive dyskinesia is typically made in people who have taken neuroleptic medications for at least three months, have signs and symptoms that are suggestive of the condition, and have undergone testing to rule out other conditions that cause similar features. This testing may include specialized laboratory tests and imaging studies such as computed tomography (CT scan), magnetic resonance imaging (MRI scan), positron emission tomography (PET scan) and single-photon emission computerized tomography (SPECT scan).[3]

Treatment

The treatment for tardive dyskinesia varies from person to person. Initial treatment usually consists of discontinuing the use of neuroleptic medications if it is safe for the affected person. In people with severe psychiatric conditions, this may not be an option, although the neuroleptic drug can sometimes be replaced with an alternative medication.[1][2]

Other medications can be prescribed to specifically treat the signs and symptoms of tardive dyskinesia. In some affected people, these drugs help reduce the severity of involuntary movements. For example, a medication called tetrabenazine has been approved by the US Food and Drug Administration (FDA) for the treatment of tardive dyskinesia. Other drugs such as benzodiazepines, clozapine, or botulinum toxin (Botox) injections also may be tried.[1][3]

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

    Organizations Providing General Support

      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

      • 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 National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
      • 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.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Tardive dyskinesia. Click on the link to view a sample search on this topic.

          References

          1. NINDS Tardive Dyskinesia Information Page. National Institute of Neurological Disorders and Stroke. April 2014; https://www.ninds.nih.gov/Disorders/All-Disorders/Tardive-Dyskinesia-Information-Page.
          2. Tardive Dyskinesia. NORD. February 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/493/viewFullReport.
          3. James Robert Brasic, MD, MPH. Tardive Dyskinesia. Medscape Reference. July 2014; https://emedicine.medscape.com/article/1151826-overview#a1.
          4. Tardive dyskinesia. MedlinePlus. May 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000685.htm.

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