U.S. flag

An official website of the United States government


Send to:

Choose Destination

Episodic kinesigenic dyskinesia(EKD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: EKD; Familial paroxysmal dystonia; Paroxysmal kinesigenic dyskinesia
SNOMED CT: Paroxysmal kinesigenic choreoathetosis (609221008); Paroxysmal kinesigenic dyskinesia (609221008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
Concept ID:
Source: Orphanet
clinical entity without genetic inheritance.
Related gene: PRRT2
Monarch Initiative: MONDO:0044202
OMIM®: 128200
OMIM® Phenotypic series: PS128200
Orphanet: ORPHA98809


Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by Chen et al., 2011). PKC shares some clinical features with benign familial infantile convulsions (BFIC2; 605751) and infantile convulsions and paroxysmal choreoathetosis (ICCA; 602066), which are allelic disorders. See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to chromosome 16p12-p11.2. Genetic Heterogeneity of Episodic Kinesigenic Dyskinesia See also EKD2 (611031), which maps to chromosome 16q13-q22.1, and EKD3 (620245), caused by mutation in the TMEM151A gene (620108) on chromosome 11q13. [from OMIM]

Professional guidelines


Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q, Niu Q, Wang J, Wang Z, Yin Y, Tian J, Tian S, Bi H, Jiang H, Liu X, Lü Y, Sun M, Wu J, Xu E, Chen T, Chen T, Chen X, Li W, Li S, Li Q, Song X, Tang Y, Yang P, Yang Y, Zhang M, Zhang X, Zhang Y, Zhang R, Ouyang Y, Yu J, Hu Q, Ke Q, Yao Y, Zhao Z, Zhao X, Zhao G, Liang F, Cheng N, Han J, Peng R, Chen S, Tang B
Transl Neurodegener 2021 Feb 16;10(1):7. doi: 10.1186/s40035-021-00231-8. PMID: 33588936Free PMC Article
De Gusmao CM, Silveira-Moriyama L
Expert Rev Neurother 2019 Sep;19(9):807-822. Epub 2019 Aug 8 doi: 10.1080/14737175.2019.1648211. PMID: 31353980
Brockmann K
Curr Neurol Neurosci Rep 2013 Oct;13(10):379. doi: 10.1007/s11910-013-0379-7. PMID: 23963607

Recent clinical studies


Cuenca-Leon E, Cormand B, Thomson T, Macaya A
Neuropediatrics 2002 Dec;33(6):288-93. doi: 10.1055/s-2002-37079. PMID: 12571782

Clinical prediction guides

Liu D, Zhang Y, Wang Y, Chen C, Li X, Zhou J, Song Z, Xiao B, Rasco K, Zhang F, Wen S, Li G
Sci Rep 2016 May 13;6:25790. doi: 10.1038/srep25790. PMID: 27173777Free PMC Article
Cuenca-Leon E, Cormand B, Thomson T, Macaya A
Neuropediatrics 2002 Dec;33(6):288-93. doi: 10.1055/s-2002-37079. PMID: 12571782

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...