PAROXYSMAL NONKINESIGENIC DYSKINESIA 2

General Information (adopted from Orphanet):

Synonyms, Signs: DYSTONIA 20
DYT20
PNKD2
Number of Symptoms 7
OrphanetNr:
OMIM Id: 611147
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:0001250) Seizures 1245 / 7739
2
(HPO:0002076) Migraine Rare [HPO:probinson] 41 / 7739
3
(HPO:0002268) Paroxysmal dystonia 11 / 7739
4
(HPO:0001327) Photomyoclonic seizures 125 / 7739
5
(OMIM) Dystonia, episodic, primary affects hands and feet 1 / 7739
6
(HPO:0003829) Incomplete penetrance 85 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Spacey et al. (2006) reported a Canadian family of European descent in which 10 members spanning 4 generations had paroxysmal nonkinesigenic dyskinesia (PNKD) inherited in an autosomal dominant pattern. Affected family members presented with episodic dystonia primarily affecting ...