MCID: SPS134
MIFTS: 27

Spasmodic Dystonia

Categories: 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). Affiliated tissues include brain and globus pallidus, and 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

MalaCards organs/tissues related to Spasmodic Dystonia:

41
Brain, Globus Pallidus

Publications for Spasmodic Dystonia

Articles related to Spasmodic Dystonia:

(show top 50) (show all 75)
# 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
Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. ( 29219190 )
2018
4
Acute Laryngeal Dystonia Associated With Asenapine Use: A Case Report. ( 29040152 )
2017
5
Adductor focal laryngeal Dystonia: correlation between clinicians' ratings and subjects' perception of Dysphonia. ( 29255615 )
2017
6
Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature. ( 28229063 )
2017
7
GNAL mutation in isolated laryngeal dystonia. ( 27093447 )
2016
8
Acute laryngeal dystonia: a persisting psychiatric emergency. ( 27145799 )
2016
9
Neural correlates of abnormal sensory discrimination in laryngeal dystonia. ( 26693398 )
2016
10
Botulinum toxin management of spasmodic dysphonia (laryngeal dystonia): a 12-year experience in more than 900 patients. ( 26200329 )
2015
11
Alcohol responsiveness in laryngeal dystonia: a survey study. ( 25929664 )
2015
12
Acute Laryngeal Dystonia With Novel Antipsychotics: A Case Report and Review of Literature. ( 26252439 )
2015
13
Very late-onset friedreich ataxia with laryngeal dystonia. ( 25685137 )
2014
14
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. ( 24518837 )
2014
15
The clinical spectrum of laryngeal dystonia includes dystonic cough: observations of a large series. ( 24753288 )
2014
16
Laryngeal dystonia gravidarum: Sudden onset of adductor spasmodic dysphonia in pregnancy. ( 23712421 )
2013
17
Sleep-related adductor laryngeal dystonia causing sleep apnea: a sleep-related breathing disorder diagnosed with sleep endoscopy and treated with botulinum toxin. ( 23666585 )
2013
18
Laryngeal dystonia in the course of multiple system atrophy: a cause of postoperative respiratory insufficiency. ( 22057313 )
2012
19
Tardive laryngeal dystonia associated with aripiprazole monotherapy. ( 22388164 )
2012
20
Acute laryngeal dystonia associated with aripiprazole. ( 23131892 )
2012
21
A rare case of laryngeal dystonia associated with neurosyphilis: Response to botulinum toxin injection. ( 21154825 )
2011
22
Comparison of clinical characteristics of patients with adductor laryngeal dystonia in the focal and segmental types. ( 21860965 )
2011
23
Pisa syndrome and laryngeal dystonia induced by novel antipsychotics. ( 22141144 )
2011
24
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. ( 19819090 )
2010
25
Severe laryngeal dystonia in a patient receiving zuclopenthixol "Acuphase" and fluoxetine. ( 20175668 )
2010
26
Dosage changes in patients with long-term botulinum toxin use for laryngeal dystonia. ( 19130960 )
2009
27
Influence of age and gender on dose and effectiveness of botulinum toxin for laryngeal dystonia. ( 19572275 )
2009
28
Laryngeal dystonia in a patient with bilateral anterior cerebral artery infarction during treatment of delirium with haloperidol. ( 18442876 )
2008
29
Ziprasidone-induced tardive laryngeal dystonia: a case report. ( 18433661 )
2008
30
A patient with haloperidol induced laryngeal dystonia. ( 18652109 )
2008
31
Laryngeal dystonia causing upper airway obstruction in progressive supranuclear palsy. ( 16597502 )
2007
32
Laryngeal dystonia as a presenting symptom of young-onset Parkinson's disease. ( 17115393 )
2007
33
Ziprasidone-induced acute laryngeal dystonia. ( 17343967 )
2007
34
Atypical antipsychotic drug-induced acute laryngeal dystonia: 2 case reports. ( 17414248 )
2007
35
Botulinum toxin for treating spasmodic dysphonia (laryngeal dystonia): a systematic Cochrane review. ( 16541931 )
2006
36
Laryngeal dystonia. ( 16469657 )
2006
37
Frozen versus fresh reconstituted botox for laryngeal dystonia. ( 16890068 )
2006
38
Laryngeal dystonia: case report and treatment with botulinum toxin. ( 17119783 )
2006
39
Adduction laryngeal dystonia: proposal and evaluation of nasofibroscopy. ( 17143421 )
2006
40
Laryngeal dystonia in xeroderma pigmentosum. ( 15925464 )
2005
41
Antipsychotic drug-induced acute laryngeal dystonia: two case reports and a mini review. ( 15888517 )
2005
42
Neuroleptic-induced acute laryngeal dystonia causing stridor: a lesson to remember. ( 16001412 )
2005
43
"Silent event-related" fMRI reveals reduced sensorimotor activation in laryngeal dystonia. ( 16301482 )
2005
44
Atypical laryngeal dystonia caused by an antiemetic. ( 15086036 )
2004
45
Laryngeal dystonia in a case of severe motor and intellectual disabilities due to Japanese encephalitis sequelae. ( 15165675 )
2004
46
Treatment of the interarytenoid muscle with botulinum toxin for laryngeal dystonia. ( 15174759 )
2004
47
Tremor laryngeal dystonia: treatment of the lateral cricoarytenoid muscle. ( 15174760 )
2004
48
Findings of multiple muscle involvement in a study of 214 patients with laryngeal dystonia using fine-wire electromyography. ( 15330138 )
2004
49
Laryngeal dystonia causing inspiratory stridor in children with cerebral palsy. ( 14660926 )
2003
50
Laryngeal dystonia in psychiatry. ( 11441788 )
2001

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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