EPISODIC KINESIGENIC DYSKINESIA 2

General Information (adopted from Orphanet):

Synonyms, Signs: DYSTONIA 19
EKD2
DYT19
Number of Symptoms 11
OrphanetNr:
OMIM Id: 611031
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:0001332) Dystonia 197 / 7739
2
(HPO:0002072) Chorea 53 / 7739
3
(HPO:0007166) Paroxysmal dyskinesia 3 / 7739
4
(HPO:0002268) Paroxysmal dystonia 11 / 7739
5
(HPO:0100660) Dyskinesia 19 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Dyskinesia, episodic 2 / 7739
8
(OMIM) Frequency of 1 to 20 episodes per day 1 / 7739
9
(OMIM) Episodes last up to 2 minutes 1 / 7739
10
(OMIM) Sensory aura may occur 1 / 7739
11
(OMIM) Choreic movements, episodic 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Valente et al. (2000) reported a large Indian kindred in which 13 individuals received a definite diagnosis of PKC. Family history indicated that 4 deceased individuals had been affected. The male:female ratio was 1.8:1. Age at onset ranged ...