MeSH Browser

MeSH Supplementary: Familial paroxysmal dystonia
Unique ID: C537180
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537180
Entry Term(s): Dystonia 10; Dystonia, familial paroxysmal; EKD1; Episodic Kinesigenic Dyskinesia 1; Familial Paroxysmal Kinesigenic Dyskinesia; Paroxysmal Kinesigenic Dyskinesia; Paroxysmal kinesigenic choreoathetosis
Registry Number: 0
Heading Mapped to: *Dystonia
Frequency: 146
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2021/08/09

Familial paroxysmal dystonia MeSH Supplementary Concept Data 2024