Aliases & Classifications for Paroxysmal Choreoathetosis

MalaCards integrated aliases for Paroxysmal Choreoathetosis:

Name: Paroxysmal Choreoathetosis 55 6
Paroxysmal Nonkinesigenic Dyskinesia 74

External Ids:

UMLS 74 C1869117

Summaries for Paroxysmal Choreoathetosis

NINDS : 55 Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. Involuntary movements precipitate some attacks, and other attacks occur when the individual has consumed alcohol or caffeine, or is tired or stressed. Attacks can last from 10 seconds to over an hour. Some individuals have lingering muscle tightness after an attack. Paroxysmal choreoathetosis frequently begins in early adolescence. A gene associated with the disorder has been discovered. The same gene is also associated with epilepsy.  

MalaCards based summary : Paroxysmal Choreoathetosis, also known as paroxysmal nonkinesigenic dyskinesia, is related to episodic kinesigenic dyskinesia 1 and familial paroxysmal nonkinesigenic dyskinesia, and has symptoms including torticollis, myokymia and dystonia, paroxysmal. An important gene associated with Paroxysmal Choreoathetosis is PRRT2 (Proline Rich Transmembrane Protein 2). Affiliated tissues include brain, globus pallidus and parietal lobe.

Related Diseases for Paroxysmal Choreoathetosis

Graphical network of the top 20 diseases related to Paroxysmal Choreoathetosis:



Diseases related to Paroxysmal Choreoathetosis

Symptoms & Phenotypes for Paroxysmal Choreoathetosis

UMLS symptoms related to Paroxysmal Choreoathetosis:


torticollis, myokymia, dystonia, paroxysmal

Drugs & Therapeutics for Paroxysmal Choreoathetosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transcranial Magnetic Stimulation (TMS) Studies of Dystonia Completed NCT00017875
2 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search NIH Clinical Center for Paroxysmal Choreoathetosis

Genetic Tests for Paroxysmal Choreoathetosis

Anatomical Context for Paroxysmal Choreoathetosis

MalaCards organs/tissues related to Paroxysmal Choreoathetosis:

42
Brain, Globus Pallidus, Parietal Lobe

Publications for Paroxysmal Choreoathetosis

Articles related to Paroxysmal Choreoathetosis:

(show top 50) (show all 60)
# Title Authors Year
1
A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification. ( 28556368 )
2017
2
Effective Treatment of Paroxysmal Nonkinesigenic Dyskinesia With Oxcarbazepine. ( 27046658 )
2016
3
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. ( 25107857 )
2015
4
Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation. ( 24074546 )
2014
5
Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus. ( 25359315 )
2014
6
[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis]. ( 25449067 )
2014
7
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. ( 24370076 )
2013
8
Paroxysmal nonkinesigenic dyskinesia with tremor. ( 24171125 )
2013
9
Striatal infarct with paroxysmal nonkinesigenic dyskinesia. ( 22975836 )
2013
10
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. ( 22967746 )
2012
11
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. ( 22214848 )
2012
12
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. ( 21832227 )
2011
13
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. ( 20716510 )
2010
14
Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia. ( 19799495 )
2010
15
Paroxysmal nonkinesigenic dyskinesia with depression treated by bilateral electroconvulsive therapy. ( 20686148 )
2010
16
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. ( 19589464 )
2009
17
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. ( 17515540 )
2007
18
Levetiracetam-responding paroxysmal nonkinesigenic dyskinesia. ( 17762321 )
2007
19
Complete suppression of paroxysmal nonkinesigenic dyskinesia by globus pallidus internus pallidal stimulation. ( 16267844 )
2006
20
Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. ( 16632198 )
2006
21
Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. ( 16717228 )
2006
22
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. ( 16972263 )
2006
23
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. ( 15824259 )
2005
24
Sublingual lorazepam in the treatment of familial paroxysmal nonkinesigenic dyskinesia. ( 15165643 )
2004
25
Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family. ( 15165638 )
2004
26
Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events. ( 11835445 )
2002
27
Chronic thalamic stimulation for treatment of dystonic paroxysmal nonkinesigenic dyskinesia. ( 11160971 )
2001
28
Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia. ( 9087991 )
1997
29
Paroxysmal choreoathetosis--a disorder related to Huntington's disease? ( 9249629 )
1997
30
Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis. ( 9371903 )
1997
31
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. ( 9382100 )
1997
32
Paroxysmal choreoathetosis. ( 8615227 )
1996
33
Paroxysmal choreoathetosis. ( 8791017 )
1996
34
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. ( 8808284 )
1996
35
Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? ( 8537215 )
1995
36
Paroxysmal choreoathetosis precipitated by movement, sound and photic stimulation in a case of arterio-venous malformation in the parietal lobe. ( 1660380 )
1991
37
Paroxysmal choreoathetosis as presenting symptom of diabetes mellitus. ( 2709027 )
1989
38
Flunarizine in paroxysmal choreoathetosis. ( 2739874 )
1989
39
Typical and atypical forms of paroxysmal choreoathetosis. ( 2806747 )
1989
40
[Carbamazepine in paroxysmal choreoathetosis in Sydenham's chorea]. ( 2930082 )
1989
41
Paroxysmal choreoathetosis after head injury. ( 3746316 )
1986
42
Therapeutic blood levels of phenytoin in treatment of paroxysmal choreoathetosis. ( 3887671 )
1985
43
Paroxysmal choreoathetosis due to hypoglycemia. ( 6696659 )
1984
44
Therapeutic aspects of kinesiogenic paroxysmal choreoathetosis and familial paroxysmal choreoathetosis of the Mount and Reback type. ( 6197511 )
1983
45
Idiopathic paroxysmal choreoathetosis--report of 2 cases and review of literature. ( 6672565 )
1983
46
Valproic acid and normal computerized tomographic scan in kinesiogenic familial paroxysmal choreoathetosis. ( 6770800 )
1980
47
Paroxysmal choreoathetosis: report of five cases and review of the literature. ( 7355039 )
1980
48
Paroxysmal choreoathetosis associated with thyrotosicosis. ( 518039 )
1979
49
Ten year follow-up of paroxysmal choreoathetosis: a sporadic case becomes familial. ( 639769 )
1978
50
Paroxysmal choreoathetosis as a presenting symptom in idiopathic hypoparathyroidism. ( 915513 )
1977

Variations for Paroxysmal Choreoathetosis

ClinVar genetic disease variations for Paroxysmal Choreoathetosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH19 NM_001105243.1(PCDH19): c.2218C> T (p.Arg740Cys) single nucleotide variant Uncertain significance rs376390125 GRCh37 Chromosome X, 99657779: 99657779
2 PCDH19 NM_001105243.1(PCDH19): c.2218C> T (p.Arg740Cys) single nucleotide variant Uncertain significance rs376390125 GRCh38 Chromosome X, 100402781: 100402781
3 DNMT1 NM_001130823.3(DNMT1): c.3362G> T (p.Ser1121Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 10251813: 10251813
4 DNMT1 NM_001130823.3(DNMT1): c.3362G> T (p.Ser1121Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 10141137: 10141137

Expression for Paroxysmal Choreoathetosis

Search GEO for disease gene expression data for Paroxysmal Choreoathetosis.

Pathways for Paroxysmal Choreoathetosis

GO Terms for Paroxysmal Choreoathetosis

Biological processes related to Paroxysmal Choreoathetosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 8.62 PNKD PRRT2

Sources for Paroxysmal Choreoathetosis

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