MCID: SPS134
MIFTS: 28

Spasmodic Dystonia

Categories: Neuronal diseases

Aliases & Classifications for Spasmodic Dystonia

MalaCards integrated aliases for Spasmodic Dystonia:

Name: Spasmodic Dystonia 12 15
Laryngeal Dystonia 12 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0050844
UMLS 70 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 6, torsion. An important gene associated with Spasmodic Dystonia is THAP1 (THAP Domain Containing 1). The drugs Ethanol and Sodium oxybate have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Spasmodic Dystonia

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 spasmodic dysphonia 32.4 TUBB4A TOR1A THAP1
2 dystonia 6, torsion 31.7 THAP1 CIZ1
3 torticollis 29.7 TOR1A PRRT2 CIZ1
4 dystonia 25 29.1 TUBB4A TOR1A THAP1 HPCA GNAL CIZ1
5 isolated dystonia 28.9 TUBB4A TOR1A THAP1 HPCA GNAL GCH1
6 cervical dystonia 28.8 TOR1A THAP1 SGCE PRKRA GNAL GCH1
7 blepharospasm 28.6 TOR2A TOR1A THAP1 SGCE GNAL GCH1
8 dystonia 1, torsion, autosomal dominant 28.4 TOR2A TOR1A THAP1 SGCE HPCA GNAL
9 oromandibular dystonia 28.4 TUBB4A TOR1A THAP1 SGCE GNAL GCH1
10 focal dystonia 28.3 TUBB4A TOR1A THAP1 SGCE PRKRA PNKD
11 multifocal dystonia 28.1 TOR1A THAP1 SGCE PRKRA HPCA GNAL
12 dystonia 12 27.8 TUBB4A TOR1A THAP1 SGCE PRKRA HPCA
13 dystonia 27.7 TUBB4A TOR2A TOR1A THAP1 SGCE PRRT2
14 segmental dystonia 27.4 TUBB4A TOR1A THAP1 SGCE PRKRA PNKD
15 dystonia 16 11.2
16 dystonia 4, torsion, autosomal dominant 11.1
17 tremor 10.4
18 cranio-facial dystonia 10.3 TOR1A THAP1
19 dysphagia 10.2
20 dystonia 23 10.2 CIZ1 ANO3
21 spastic monoplegia 10.1 TOR1A HPCA
22 hereditary lymphedema ii 10.1 TOR1A THAP1 SGCE
23 stuttering 10.1
24 lymphatic malformation 5 10.1 TOR1A THAP1 SGCE
25 oculogyric crisis 10.0 GCH1 ATP1A3
26 neurodegeneration with brain iron accumulation 10.0 TOR1A THAP1 ATP1A3
27 multiple system atrophy 1 10.0
28 xeroderma pigmentosum, complementation group a 10.0
29 xeroderma pigmentosum, variant type 10.0
30 ataxia and polyneuropathy, adult-onset 10.0
31 dyt-gnal 10.0
32 leber optic atrophy and dystonia 10.0 SGCE GCH1
33 dystonia 24 9.9 THAP1 HPCA GNAL ANO3
34 dystonia 27 9.9 HPCA GNAL CIZ1 ANO3
35 hereditary dystonia 9.9 TUBB4A THAP1 GCH1 ANO3
36 apnea, obstructive sleep 9.8
37 discrimination, two-point, reduction in 9.8
38 laryngomalacia 9.8
39 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.8
40 choreoacanthocytosis 9.8
41 ataxia-telangiectasia 9.8
42 basal ganglia calcification, idiopathic, 1 9.8
43 friedreich ataxia 9.8
44 tardive dyskinesia 9.8
45 asthma 9.8
46 supranuclear palsy, progressive, 1 9.8
47 cyanosis, transient neonatal 9.8
48 sleep apnea 9.8
49 basal ganglia calcification 9.8
50 scoliosis 9.8

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 behavior/neurological MP:0005386 10.03 ATP1A3 CIZ1 GCH1 GNAL HPCA PNKD
2 growth/size/body region MP:0005378 9.85 ATP1A3 CIZ1 GCH1 GNAL PRKRA PRRT2
3 muscle MP:0005369 9.43 ATP1A3 PRKRA PRRT2 SGCE TOR1A TUBB4A
4 nervous system MP:0003631 9.32 ATP1A3 GCH1 HPCA PNKD PRKRA PRRT2

Drugs & Therapeutics for Spasmodic Dystonia

Drugs for Spasmodic Dystonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2, Phase 3 64-17-5 702
2
Sodium oxybate Approved Phase 2, Phase 3 502-85-2 5360545
3 Anesthetics Phase 2, Phase 3
4 Anesthetics, General Phase 2, Phase 3
5 Anesthetics, Intravenous Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Central Mechanisms and Treatment Response of Sodium Oxybate in Spasmodic Dysphonia and Voice Tremor Recruiting NCT03292458 Phase 2, Phase 3 Sodium Oxybate
2 Imaging Genetics of Spasmodic Dysphonia Recruiting NCT03042975
3 Feasibility and Efficacy of Adaptive Closed-loop Brain-computer Interface in Laryngeal Dystonia Not yet recruiting NCT04421365

Search NIH Clinical Center for Spasmodic Dystonia

Genetic Tests for Spasmodic Dystonia

Anatomical Context for Spasmodic Dystonia

MalaCards organs/tissues related to Spasmodic Dystonia:

40
Globus Pallidus

Publications for Spasmodic Dystonia

Articles related to Spasmodic Dystonia:

(show top 50) (show all 224)
# Title Authors PMID Year
1
Hemodynamic Changes Associated With Transcervical Laryngeal Injection of Botulinum Toxin. 61
33541763 2021
2
Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation. 61
33316367 2021
3
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. 61
33150406 2020
4
Head and Neck Dystonia Following Chimeric-Antigen Receptor T-Cell Immunotherapy: A Case Report. 61
32108338 2020
5
Respiratory Laryngeal Dystonia: Characterization and Diagnosis of a Rare Neurogenic Disorder. 61
32073668 2020
6
Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients. 61
33222902 2020
7
DYT-TUBB4A (DYT4 dystonia): New clinical and genetic observations. 61
32943487 2020
8
Acoustic Model of Perceived Overall Severity of Dysphonia in Adductor-Type Laryngeal Dystonia. 61
32692616 2020
9
The large-scale structural connectome of task-specific focal dystonia. 61
32311207 2020
10
Auditory-Perceptual Evaluation of Deep Brain Stimulation on Voice and Speech in Patients With Dystonia. 61
30879706 2020
11
Risperidone-Induced Acute Laryngeal Dystonia: A Case Report. 61
32506071 2020
12
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. 61
31848221 2020
13
Very-late-onset Friedreich's ataxia: diagnosis in a kindred with late-onset cerebellar ataxia. 61
31467149 2020
14
Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia. 61
32558426 2020
15
Spasmodic Dysphonia. 61
33166970 2020
16
Duloxetine-Associated Acute Laryngeal Dystonia: A Case Report. 61
31688398 2019
17
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly. 61
31420595 2019
18
The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report. 61
31607891 2019
19
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12. 61
31190316 2019
20
Movement Disorders and Voice. 61
31076164 2019
21
Early-onset oromandibular-laryngeal dystonia and Charlot gait: New phenotype of DYT-KMT2B. 61
31061210 2019
22
Multidose Botulinum Toxin A for Intralaryngeal Injection: A Cost Analysis. 61
29307768 2019
23
Haloperidol-Induced Dystonia due to Sedation for Upper Gastrointestinal Endoscopy: A Pediatric Case Report. 61
31032123 2019
24
Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia. 61
30269178 2019
25
Treatment of psychiatric disturbances in common hyperkinetic movement disorders. 61
30501439 2019
26
Task-specificity in focal dystonia is shaped by aberrant diversity of a functional network kernel. 61
30264427 2018
27
Spread of dystonia in patients with idiopathic adult-onset laryngeal dystonia. 61
29935029 2018
28
A novel therapeutic agent, sodium oxybate, improves dystonic symptoms via reduced network-wide activity. 61
30382161 2018
29
Antiglycine receptor antibody related disease: a case series and literature review. 61
29904974 2018
30
Classifying and Diagnosing Laryngeal Dystonia-Are We Artists or Are We Scientists? 61
29931264 2018
31
[Laryngeal dystonia: novel forms of therapeutic administration of botulinum toxin by direct routes]. 61
29790569 2018
32
Clinical Practice Guideline: Hoarseness (Dysphonia) (Update) Executive Summary. 61
29494316 2018
33
Clinical Practice Guideline: Hoarseness (Dysphonia) (Update). 61
29494321 2018
34
Botulinum Toxin Treatment of Movement Disorders. 61
29478149 2018
35
Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. 61
29219190 2018
36
Central voice production and pathophysiology of spasmodic dysphonia. 61
28543038 2018
37
Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity. 61
29117296 2018
38
The direct basal ganglia pathway is hyperfunctional in focal dystonia. 61
29087445 2017
39
Acute Laryngeal Dystonia Associated With Asenapine Use: A Case Report. 61
29040152 2017
40
Spasmodic Dysphonia: A Review. Part 2: Characterization of Pathophysiology. 61
28850796 2017
41
Spasmodic Dysphonia: A Review. Part 1: Pathogenic Factors. 61
28850801 2017
42
[Treatment of laryngeal dystonia with botulinum toxin]. 61
28841743 2017
43
Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia. 61
28674168 2017
44
An open-label study of sodium oxybate in Spasmodic dysphonia. 61
27808415 2017
45
Botulinum toxin injection in laryngeal dyspnea. 61
27600559 2017
46
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 61
27992417 2017
47
The therapeutic usage of botulinum toxin (Botox) in non-cosmetic head and neck conditions - An evidence based review. 61
28223858 2017
48
Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature. 61
28229063 2017
49
Adductor focal laryngeal Dystonia: correlation between clinicians' ratings and subjects' perception of Dysphonia. 61
29255615 2017
50
Acute laryngeal dystonia: a persisting psychiatric emergency. 61
27145799 2016

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

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

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.33 TOR1A THAP7 GCH1
2 dendrite membrane GO:0032590 8.96 SGCE HPCA
3 neuronal cell body membrane GO:0032809 8.62 HPCA ATP1A3

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

# Name GO ID Score Top Affiliating Genes
1 chaperone cofactor-dependent protein refolding GO:0051085 8.96 TOR2A TOR1A
2 neuromuscular process controlling posture GO:0050884 8.8 PRRT2 PNKD GCH1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.43 TUBB4A TOR2A TOR1A GNAL GCH1 ATP1A3
2 identical protein binding GO:0042802 9.17 TOR2A TOR1A THAP7 THAP1 PRKRA HPCA

Sources for Spasmodic Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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