Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C537180 http://purl.bioontology.org/ontology/MESH/C537180
Preferred Name	Familial paroxysmal dystonia
Synonyms	Familial Paroxysmal Kinesigenic Dyskinesia Paroxysmal Kinesigenic Dyskinesia Paroxysmal kinesigenic choreoathetosis EKD1 Episodic Kinesigenic Dyskinesia 1 Dystonia, familial paroxysmal Dystonia 10
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Familial Paroxysmal Kinesigenic Dyskinesia Paroxysmal Kinesigenic Dyskinesia Paroxysmal kinesigenic choreoathetosis EKD1 Episodic Kinesigenic Dyskinesia 1 Dystonia, familial paroxysmal Dystonia 10 See more See less
prefLabel	Familial paroxysmal dystonia
Scope Statement	A hereditary autosomal dominant neurologic condition that is the most common type of paroxysmal movement disorder and is often misdiagnosed as epilepsy. It characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. Onset is usually during childhood or early adulthood and can involve dystonic postures, CHOREA, or ATHETOSIS. The condition improves with age and responds favorably to ANTICONVULSANT AGENTS such as CARBAMAZEPINE or PHENYTOIN. Mutations in the PRRT2 gene have been identified. OMIM: 128200
type	http://www.w3.org/2002/07/owl#Class
tui	T047
HM	D004421
SC	3
TERMUI	T841416 T809247 T741724 T824947 T809246 T741727 T809245 T741722 See more See less
TH	OMIM (2013) ORD (2014) OMIM (2014) GHR (2014) ORD (2010)
MMR	20210809
notation	C537180
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C4552000 C1868682
MeSH Frequency	146
DSC	20100825
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D004421
MDA	20100825

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