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Familial paroxysmal kinesigenic dyskinesia

Reviewed January 2014

What is familial paroxysmal kinesigenic dyskinesia?

Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.

People with familial paroxysmal kinesigenic dyskinesia experience episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled. An episode may involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); or, rarely, flailing movements of the limbs (ballismus). Familial paroxysmal kinesigenic dyskinesia may affect one or both sides of the body. The type of abnormal movement varies among affected individuals, even among members of the same family. In many people with familial paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura immediately precedes the episode. The aura is often described as a crawling or tingling sensation in the affected body part. Individuals with this condition do not lose consciousness during an episode and do not experience any symptoms between episodes.

Individuals with familial paroxysmal kinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or adolescence. Episodes typically last less than five minutes, and the frequency of episodes ranges from one per month to 100 per day. In most affected individuals, episodes occur less often with age.

In some people with familial paroxysmal kinesigenic dyskinesia the disorder begins in infancy with recurring seizures called benign infantile convulsions. These seizures usually develop in the first year of life and stop by age 3. When benign infantile convulsions are associated with familial paroxysmal kinesigenic dyskinesia, the condition is known as infantile convulsions and choreoathetosis (ICCA). In families with ICCA, some individuals develop only benign infantile convulsions, some have only familial paroxysmal kinesigenic dyskinesia, and others develop both.

How common is familial paroxysmal kinesigenic dyskinesia?

Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in 150,000 individuals. For unknown reasons, this condition affects more males than females.

What genes are related to familial paroxysmal kinesigenic dyskinesia?

Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control signaling between nerve cells (neurons). It is thought that PRRT2 gene mutations, which reduce the amount of PRRT2 protein, lead to abnormal neuronal signaling. Altered neuronal activity could underlie the movement problems associated with familial paroxysmal kinesigenic dyskinesia.

Not everyone with this condition has a mutation in the PRRT2 gene. When no PRRT2 gene mutations are found, the cause of the condition is unknown.

Related Gene(s)

Changes in this gene are associated with familial paroxysmal kinesigenic dyskinesia.

  • PRRT2

How do people inherit familial paroxysmal kinesigenic dyskinesia?

This condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of familial paroxysmal kinesigenic dyskinesia?

These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia and may include treatment providers.

  • Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia (http://www.ncbi.nlm.nih.gov/books/NBK1460)
  • Genetic Testing Registry: Dystonia 10 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1868682)

You might also find information on the diagnosis or management of familial paroxysmal kinesigenic dyskinesia in Educational resources (http://www.ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about familial paroxysmal kinesigenic dyskinesia?

You may find the following resources about familial paroxysmal kinesigenic dyskinesia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for familial paroxysmal kinesigenic dyskinesia?

  • dystonia 10
  • episodic kinesigenic dyskinesia
  • familial paroxysmal dystonia
  • paroxysmal kinesigenic choreoathetosis
  • paroxysmal kinesigenic dyskinesia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about familial paroxysmal kinesigenic dyskinesia?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding familial paroxysmal kinesigenic dyskinesia?

aura ; autosomal ; autosomal dominant ; benign ; cell ; chorea ; dyskinesia ; dystonia ; familial ; gene ; inheritance ; inherited ; involuntary ; mutation ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Callenbach PM, van den Boogerd EH, de Coo RF, ten Houten R, Oosterwijk JC, Hageman G, Frants RR, Brouwer OF, van den Maagdenberg AM. Refinement of the chromosome 16 locus for benign familial infantile convulsions. Clin Genet. 2005 Jun;67(6):517-25. (http://www.ncbi.nlm.nih.gov/pubmed/15857419?dopt=Abstract)
  • Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008. (http://www.ncbi.nlm.nih.gov/pubmed/22101681?dopt=Abstract)
  • Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia (http://www.ncbi.nlm.nih.gov/books/NBK1460)
  • Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res. 2006 Aug;70 Suppl 1:S174-84. Epub 2006 Aug 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16901678?dopt=Abstract)
  • Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura K, Niikawa N. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet. 2007;52(4):334-41. Epub 2007 Feb 14. (http://www.ncbi.nlm.nih.gov/pubmed/17387577?dopt=Abstract)
  • Mehta SH, Morgan JC, Sethi KD. Paroxysmal dyskinesias. Curr Treat Options Neurol. 2009 May;11(3):170-8. (http://www.ncbi.nlm.nih.gov/pubmed/19364451?dopt=Abstract)
  • Rochette J, Roll P, Szepetowski P. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. J Med Genet. 2008 Dec;45(12):773-9. doi: 10.1136/jmg.2008.059519. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19047496?dopt=Abstract)
  • Silveira-Moriyama L, Gardiner AR, Meyer E, King MD, Smith M, Rakshi K, Parker A, Mallick AA, Brown R, Vassallo G, Jardine PE, Guerreiro MM, Lees AJ, Houlden H, Kurian MA. Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev Med Child Neurol. 2013 Apr;55(4):327-34. doi: 10.1111/dmcn.12056. Epub 2013 Jan 30. (http://www.ncbi.nlm.nih.gov/pubmed/23363396?dopt=Abstract)
  • van Rootselaar AF, Schade van Westrum S, Velis DN, Tijssen MA. The paroxysmal dyskinesias. Pract Neurol. 2009 Apr;9(2):102-9. doi: 10.1136/jnnp.2009.172213. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19289562?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2014
Published: October 20, 2014