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Disease Profile

Paroxysmal kinesigenic choreoathetosis

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.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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ICD-10

G24.8

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.

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)

Familial paroxysmal kinesigenic dyskinesia; Familial PKD; Paroxysmal kinesigenic choreathetosis;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Paroxysmal kinesigenic choreoathetosis involves episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled.[1] Cold, hyperventilation, and mental tension have also been reported to trigger attacks in some cases.[2] The exact type of abnormal movement varies among affected individuals but may include prolonged muscle contractions, writhing motions, or fast, "dance-like" motions. One or both sides of the body may be affected. The episodes can sometimes be preceded by a crawling or tingling sensation in the affected body part and do not involve a loss of consciousness.[1][2] Individuals with paroxysmal kinesigenic choreoathetosis usually begin to show signs and symptoms of the disorder during childhood or adolescence. Episodes typically last less than 5 minutes, though they may last up to several hours. The frequency of episodes ranges from one per month to 100 per day. In most cases, the episodes occur less often with age.[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
80%-99% of people have these symptoms
Athetosis
Involuntary writhing movements in fingers, hands, toes, and feet
0002305
Chorea
0002072
Dyskinesia
Disorder of involuntary muscle movements
0100660
30%-79% of people have these symptoms
Focal sensory seizure
0011157
5%-29% of people have these symptoms
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

0002076
Writer's cramp
0002356

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

  • Genetics Home Reference (GHR) contains information on Paroxysmal kinesigenic choreoathetosis. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
    PRRT2-Associated Paroxysmal Movement Disorders
    Familial Paroxysmal Kinesigenic Dyskinesia
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Paroxysmal kinesigenic choreoathetosis. Click on the link to view a sample search on this topic.

References

  1. Familial paroxysmal kinesigenic dyskinesia. Genetics Home Reference. January, 2014; https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia. Accessed 5/27/2015.
  2. Spacey, Sian and Adams, Paul. Familial Paroxysmal Kinesigenic Dyskinesia. GeneReviews. June 27, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1460/. Accessed 5/27/2015.