MCID: PRX097
MIFTS: 31

Paroxysmal Dystonia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Paroxysmal Dystonia

MalaCards integrated aliases for Paroxysmal Dystonia:

Name: Paroxysmal Dystonia 59 6

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA200037

Summaries for Paroxysmal Dystonia

MalaCards based summary : Paroxysmal Dystonia is related to dystonia and movement disease. An important gene associated with Paroxysmal Dystonia is FLG (Filaggrin), and among its related pathways/superpathways are Neuroscience and Amphetamine addiction. Affiliated tissues include brain, spinal cord and bone, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Paroxysmal Dystonia

Diseases related to Paroxysmal Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 dystonia 30.9 TH SLC6A3 SLC2A1 PNKD
2 movement disease 30.3 TH SLC6A3 SLC2A1
3 dystonia, dopa-responsive 29.3 TH SLC6A3 SLC2A1 PNKD
4 status epilepticus 28.4 SST PVALB NPY CALB2
5 episodic kinesigenic dyskinesia 1 11.9
6 convulsions, familial infantile, with paroxysmal choreoathetosis 11.3
7 sandifer syndrome 11.3
8 dermatitis, atopic, 2 10.6 FLG-AS1 FLG
9 multiple sclerosis 10.4
10 paroxysmal choreoathetosis 10.4 SLC2A1 PNKD AAMP
11 epilepsy 10.3
12 spinocerebellar degeneration 10.2 SST NPY
13 sleep disorder 10.2
14 seizure disorder 10.2
15 tremor 10.2
16 carcinoid syndrome 10.2 SST NPY
17 disuse amblyopia 10.2 SLC2A1 NOS1
18 visual epilepsy 10.2
19 paroxysmal dyskinesia 10.2
20 hemidystonia 10.1
21 hemiplegia 10.1
22 neuromyelitis optica 10.1
23 hypertrophic pyloric stenosis 10.1 SST NOS1
24 tetrahydrobiopterin deficiency 10.1 TH NOS1
25 focal epilepsy 10.0
26 relapsing-remitting multiple sclerosis 10.0
27 hereditary dystonia 10.0
28 clear cell adenofibroma 10.0 SLC2A1 CALB2
29 amphetamine abuse 10.0 SLC6A3 PVALB
30 neonatal hypoxic and ischemic brain injury 10.0 TH PVALB
31 spindle cell synovial sarcoma 9.9 SLC2A1 CALB2
32 paroxysmal nonkinesigenic dyskinesia 1 9.9
33 syringomyelia, noncommunicating isolated 9.9
34 chiari malformation type ii 9.9
35 chondrodysplasia punctata syndrome 9.9
36 hemochromatosis, neonatal 9.9
37 hemochromatosis, type 1 9.9
38 panencephalitis, subacute sclerosing 9.9
39 succinic semialdehyde dehydrogenase deficiency 9.9
40 ataxia and polyneuropathy, adult-onset 9.9
41 chondrodysplasia punctata, brachytelephalangic, autosomal 9.9
42 glut1 deficiency syndrome 2 9.9
43 pyruvate dehydrogenase e1-beta deficiency 9.9
44 chorea, childhood-onset, with psychomotor retardation 9.9
45 alternating hemiplegia of childhood 9.9
46 scoliosis 9.9
47 hydrocephalus 9.9
48 detrusor sphincter dyssynergia 9.9
49 pseudobulbar palsy 9.9
50 quadriplegia 9.9

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



Diseases related to Paroxysmal Dystonia

Symptoms & Phenotypes for Paroxysmal Dystonia

MGI Mouse Phenotypes related to Paroxysmal Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 CALB2 DNM1L NOS1 NPY PDYN PNKD
2 nervous system MP:0003631 9.97 ASIC4 CALB2 DNM1L NOS1 NPY PDYN
3 no phenotypic analysis MP:0003012 9.5 NOS1 PDYN PNKD PVALB SLC2A1 SST
4 normal MP:0002873 9.23 CALB2 NOS1 NPY PVALB SLC6A3 SST

Drugs & Therapeutics for Paroxysmal Dystonia

Search Clinical Trials , NIH Clinical Center for Paroxysmal Dystonia

Genetic Tests for Paroxysmal Dystonia

Anatomical Context for Paroxysmal Dystonia

MalaCards organs/tissues related to Paroxysmal Dystonia:

41
Brain, Spinal Cord, Bone, Cortex, Cerebellum, Temporal Lobe, Thalamus

Publications for Paroxysmal Dystonia

Articles related to Paroxysmal Dystonia:

(show top 50) (show all 238)
# Title Authors PMID Year
1
Paroxysmal dystonia as an initial presentation of multiple sclerosis posing a diagnostic challenge. 38
31380825 2019
2
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency 38
31219693 2019
3
Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related disease. 38
31061839 2019
4
Movement disorders associated with neuronal antibodies. 38
30338517 2019
5
A case of concurrent diurnal and nocturnal paroxysmal dystonia. 38
30105606 2018
6
A clinical efficacy experience of Lacosamide on sleep quality in patients with Nocturnal Frontal Lobe Epilepsy (NFLE). 38
30333465 2018
7
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus. 38
29877124 2018
8
[Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review]. 38
30111474 2018
9
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes. 38
30128325 2018
10
Movement disorders in multiple sclerosis and neuromyelitis optica: A clinical marker of neurological disability. 38
29530725 2018
11
A case of Wilson's disease presenting with paroxysmal dystonia. 38
28560589 2017
12
Alterations of M1 and M4 acetylcholine receptors in the genetically dystonic (dtsz) hamster and moderate antidystonic efficacy of M1 and M4 anticholinergics. 38
28596119 2017
13
Clinical characteristics and PRRT2 gene mutation analysis of sporadic patients with paroxysmal kinesigenic dyskinesia in China. 38
28525812 2017
14
The genetic audiogenic seizure hamster from Salamanca: The GASH:Sal. 38
27072920 2017
15
Sporadic Nocturnal Frontal Lobe Epilepsy--Report on Two Cases and Review of the First Taiwanese Series of 10 Cases. 38
29250756 2017
16
From nocturnal frontal lobe epilepsy to Sleep-Related Hypermotor Epilepsy: A 35-year diagnostic challenge. 38
28027860 2017
17
Pediatric Multiple Sclerosis in Tunisia: A Retrospective Study over 11 Years. 38
29238716 2017
18
The α2β3γ2 GABAA receptor preferring agonist NS11394 aggravates dystonia in the phenotypic dtsz model. 38
27693801 2016
19
Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata. 38
26777981 2016
20
Successful Treatment of Paroxysmal Movement Disorders of Infancy With Dimenhydrinate and Diphenhydramine. 38
26726052 2016
21
Clinical Pearls - how my patients taught me: The fainting lark symptom. 38
27822381 2016
22
Lower KV7.5 Potassium Channel Subunit Expression in an Animal Model of Paroxysmal Dystonia. 38
26553166 2016
23
Commentary on neuromyelitis optica associated with painful paroxysmal dystonia: case report and literature review. 38
25381626 2015
24
Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome. 38
26088892 2015
25
Neuromyelitis optica associated with painful paroxysmal dystonia: case report and literature review. 38
24988900 2015
26
Paroxysmal dystonia as a manifestation of multiple sclerosis. 38
25970835 2015
27
Paroxysmal Dystonia with Axonal Neuropathy Resulting from Benignant Insulinoma: Case Report. 38
30713881 2015
28
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. 38
25107857 2015
29
Nocturnal paroxysmal dystonia - case report. 38
25890930 2015
30
Role of striatal NMDA receptor subunits in a model of paroxysmal dystonia. 38
25139804 2014
31
Sporadic nocturnal frontal lobe epilepsy: A consecutive series of 8 cases. 38
26483923 2014
32
Paroxysmal Dystonia as the First Manifestation of Multiple Sclerosis with Internal Capsular Plaque. 38
28360644 2014
33
The Phenomenology of Functional (Psychogenic) Dystonia. 38
30363921 2014
34
[Paroxysmal dystonia and multiple sclerosis]. 38
24267950 2014
35
Epilepsy in Aicardi-Goutières syndrome. 38
24011626 2014
36
Dystonia--new advances in classification, genetics, pathophysiology and treatment. 38
24588501 2014
37
Persistent changes of corticostriatal plasticity in dt(sz) mutant hamsters after age-dependent remission of dystonia. 38
23827309 2013
38
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. 38
22901280 2013
39
Movement disorders in multiple sclerosis and other demyelinating diseases. 38
23522528 2013
40
Effect of acetazolamide for long-lasting paroxysmal dystonia in a patient with multiple sclerosis: a case report and review of literature. 38
23589690 2013
41
Multiple sclerosis and pain. 38
22909889 2012
42
Paroxysmal dystonia and neuromyelitis optica. 38
22358312 2012
43
Propofol-induced paroxysmal dystonia. 38
22176811 2012
44
Overview of primary monogenic dystonia. 38
22166420 2012
45
[Hereditary dystonia -- phenotype of DYT1]. 38
23196519 2012
46
Paroxysmal dystonia as a rare initial manifestation of multiple sclerosis. 38
21673278 2011
47
Parasomnias and nocturnal frontal lobe epilepsy (NFLE): lights and shadows--controversial points in the differential diagnosis. 38
22136895 2011
48
Changes in dynorphin immunoreactivity but unaltered density of enkephalin immunoreactive neurons in basal ganglia nuclei of genetically dystonic hamsters. 38
21638337 2011
49
Disorders of amino acid metabolism associated with epilepsy. 38
21803516 2011
50
Movement disorders in patients with multiple sclerosis. 38
21496590 2011

Variations for Paroxysmal Dystonia

ClinVar genetic disease variations for Paroxysmal Dystonia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FLG NM_002016.1(FLG): c.544A> T (p.Lys182Ter) single nucleotide variant Pathogenic rs1218912272 1:152286818-152286818 1:152314342-152314342
2 PNKD NM_015488.5(PNKD): c.26C> T (p.Ala9Val) single nucleotide variant Pathogenic rs121434511 2:219135284-219135284 2:218270561-218270561
3 SLC2A1 NM_006516.3(SLC2A1): c.400G> A (p.Gly134Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518953 1:43396413-43396413 1:42930742-42930742

Expression for Paroxysmal Dystonia

Search GEO for disease gene expression data for Paroxysmal Dystonia.

Pathways for Paroxysmal Dystonia

Pathways related to Paroxysmal Dystonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 TH SV2A NPY NOS1
2
Show member pathways
11.4 TH SLC6A3 PDYN
3 10.83 TH SLC6A3
4 10.73 TH SLC6A3
5
Show member pathways
10.43 TH SLC6A3 NOS1

GO Terms for Paroxysmal Dystonia

Cellular components related to Paroxysmal Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.46 TH SV2A PDYN CALB2
2 neuron projection GO:0043005 9.26 TH SV2A SLC6A3 CALB2
3 neuronal cell body GO:0043025 9.1 TH SV2A SST SLC6A3 PVALB PDYN

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

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.54 TH SLC2A1 NOS1
2 chemical synaptic transmission GO:0007268 9.46 SV2A SST PDYN NPY
3 response to steroid hormone GO:0048545 9.4 TH SST
4 regulation of dopamine metabolic process GO:0042053 9.32 SLC6A3 PNKD
5 dopamine biosynthetic process GO:0042416 9.26 TH SLC6A3
6 cerebral cortex development GO:0021987 9.13 TH SLC2A1 NPY
7 neurotransmitter biosynthetic process GO:0042136 8.8 TH SLC6A3 NOS1

Molecular functions related to Paroxysmal Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dopamine binding GO:0035240 8.96 TH SLC6A3
2 tetrahydrobiopterin binding GO:0034617 8.62 TH NOS1

Sources for Paroxysmal Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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