EPISODIC KINESIGENIC DYSKINESIA 1

General Information (adopted from Orphanet):

Synonyms, Signs: PAROXYSMAL KINESIGENIC DYSKINESIA
DYSTONIA, FAMILIAL PAROXYSMAL
DYSTONIA 10
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS
EKD1
DYT10
PKD
PKC
Number of Symptoms 6
OrphanetNr:
OMIM Id: 128200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0100660) Dyskinesia 19 / 7739
2
(HPO:0002268) Paroxysmal dystonia 11 / 7739
3
(HPO:0002310) Orofacial dyskinesia 10 / 7739
4
(HPO:0007098) Paroxysmal choreoathetosis 6 / 7739
5
(OMIM) Infantile seizures, afebrile, with no neurologic sequelae (in 40% of patients) 1 / 7739
6
(OMIM) Dyskinesia, episodic 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Familial paroxysmal dystonia was reported as a 'pure entity' in mother and 3 sons by Weber (1967). He claimed that only 1 family had previously been reported (Lance, 1963) and that the disorder is distinct from familial paroxysmal ...
Molecular genetics OMIM In affected members of 8 unrelated Han Chinese families with episodic kinesigenic dyskinesia-1, Chen et al. (2011) identified 3 different heterozygous truncating mutations in the PRRT2 gene (614386.0001-614386.0003). The first mutation was found by exome sequencing of a ...
Population genetics OMIM Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder, with a prevalence of 1 in 150,000 individuals (Chen et al., 2011).