MCID: SPS134
MIFTS: 20

Spasmodic Dystonia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Spasmodic Dystonia

MalaCards integrated aliases for Spasmodic Dystonia:

Name: Spasmodic Dystonia 12 15
Laryngeal Dystonia 12 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050844
UMLS 73 C1963946

Summaries for Spasmodic Dystonia

Disease Ontology : 12 A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.

MalaCards based summary : Spasmodic Dystonia, also known as laryngeal dystonia, is related to spasmodic dysphonia and dystonia. An important gene associated with Spasmodic Dystonia is THAP1 (THAP Domain Containing 1). Related phenotype is vision/eye.

Related Diseases for Spasmodic Dystonia

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



Diseases related to Spasmodic Dystonia

Symptoms & Phenotypes for Spasmodic Dystonia

MGI Mouse Phenotypes related to Spasmodic Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 CAMP THAP1 TOR1A XPA

Drugs & Therapeutics for Spasmodic Dystonia

Search Clinical Trials , NIH Clinical Center for Spasmodic Dystonia

Genetic Tests for Spasmodic Dystonia

Anatomical Context for Spasmodic Dystonia

Publications for Spasmodic Dystonia

Articles related to Spasmodic Dystonia:

(show all 19)
# Title Authors Year
1
Spread of dystonia in patients with idiopathic adult-onset laryngeal dystonia. ( 29935029 )
2018
2
Classifying and Diagnosing Laryngeal Dystonia-Are We Artists or Are We Scientists? ( 29931264 )
2018
3
GNAL mutation in isolated laryngeal dystonia. ( 27093447 )
2016
4
Botulinum toxin management of spasmodic dysphonia (laryngeal dystonia): a 12-year experience in more than 900 patients. ( 26200329 )
2015
5
Very late-onset friedreich ataxia with laryngeal dystonia. ( 25685137 )
2014
6
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. ( 24518837 )
2014
7
Laryngeal dystonia gravidarum: Sudden onset of adductor spasmodic dysphonia in pregnancy. ( 23712421 )
2013
8
Laryngeal dystonia in the course of multiple system atrophy: a cause of postoperative respiratory insufficiency. ( 22057313 )
2012
9
A rare case of laryngeal dystonia associated with neurosyphilis: Response to botulinum toxin injection. ( 21154825 )
2011
10
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. ( 19819090 )
2010
11
Laryngeal dystonia in a patient with bilateral anterior cerebral artery infarction during treatment of delirium with haloperidol. ( 18442876 )
2008
12
Laryngeal dystonia causing upper airway obstruction in progressive supranuclear palsy. ( 16597502 )
2007
13
Botulinum toxin for treating spasmodic dysphonia (laryngeal dystonia): a systematic Cochrane review. ( 16541931 )
2006
14
Laryngeal dystonia in xeroderma pigmentosum. ( 15925464 )
2005
15
Laryngeal dystonia (spasmodic dysphonia): observations of 901 patients and treatment with botulinum toxin. ( 9750921 )
1998
16
Botulinum toxin management of spasmodic dysphonia (laryngeal dystonia): a 12-year experience in more than 900 patients. ( 9778279 )
1998
17
Treatment of cervical dystonia hand spasms and laryngeal dystonia with botulinum toxin. ( 1541963 )
1992
18
Choreoacanthocytosis with marked dysphagia and laryngeal dystonia. ( 1816230 )
1991
19
Resolution of spasmodic dysphonia (focal laryngeal dystonia) via chiropractic manipulative management. ( 1919375 )
1991

Variations for Spasmodic Dystonia

Expression for Spasmodic Dystonia

Search GEO for disease gene expression data for Spasmodic Dystonia.

Pathways for Spasmodic Dystonia

GO Terms for Spasmodic Dystonia

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

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 8.96 TOR1A XPA
2 protein localization to nucleus GO:0034504 8.62 TOR1A XPA

Sources for Spasmodic Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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