MCID: ORM002
MIFTS: 32

Oromandibular Dystonia

Categories: Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Oromandibular Dystonia

MalaCards integrated aliases for Oromandibular Dystonia:

Name: Oromandibular Dystonia 12 59 29 6 15

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050843
Orphanet 59 ORPHA93958
UMLS via Orphanet 74 C0393607
ICD10 via Orphanet 34 G24.4

Summaries for Oromandibular Dystonia

Disease Ontology : 12 A focal dystonia that is characterized by distortions of the mouth and tongue.

MalaCards based summary : Oromandibular Dystonia is related to lymphedema, hereditary, ii and dystonia. An important gene associated with Oromandibular Dystonia is GCH1 (GTP Cyclohydrolase 1). The drugs Acetylcholine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and subthalamic nucleus, and related phenotypes are Decreased vesicular stomatitis virus (VSV) infection and Decreased vesicular stomatitis virus (VSV) infection

Wikipedia : 76 Oromandibular dystonia is a form of focal dystonia affecting the mouth, jaw and tongue, and in this... more...

Related Diseases for Oromandibular Dystonia

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 lymphedema, hereditary, ii 30.7 CAMP GCH1 THAP1 TOR1A
2 dystonia 29.6 GCH1 THAP1 TOR1A
3 spasmodic dysphonia 29.2 THAP1 TOR1A
4 blepharospasm 28.9 CAMP GCH1 THAP1 TOR1A
5 dystonia 16 11.2
6 coasy protein-associated neurodegeneration 11.0
7 cerebrotendinous xanthomatosis 10.0
8 xanthomatosis 10.0
9 hemifacial spasm 10.0
10 dystonia 3, torsion, x-linked 10.0 GCH1 THAP1
11 torticollis 9.9
12 ataxia-telangiectasia 9.9
13 supranuclear palsy, progressive, 1 9.9
14 hemorrhage, intracerebral 9.9
15 osteoarthritis 9.9
16 angioedema 9.9
17 pharyngitis 9.9
18 cervicitis 9.9
19 cerebellopontine angle meningioma 9.9
20 encephalitis 9.9
21 swallowing disorders 9.9
22 classic progressive supranuclear palsy syndrome 9.9
23 methanol poisoning 9.9
24 multifocal dystonia 9.6 CAMP TOR1A
25 thiamine metabolism dysfunction syndrome 2 9.6 GCH1 TOR1A
26 dystonia 24 9.5 THAP1 TOR1A
27 leukodystrophy, hypomyelinating, 2 9.4 GCH1 TOR1A
28 dystonia 1, torsion, autosomal dominant 9.2 CAMP GCH1 TOR1A
29 early-onset generalized dystonia 9.2 GCH1 THAP1 TOR1A
30 spasmodic dystonia 9.1 CAMP THAP1 TOR1A
31 dystonia, dopa-responsive 9.1 GCH1 THAP1 TOR1A
32 focal hand dystonia 9.1 CAMP THAP1 TOR1A
33 movement disease 9.1 GCH1 TOR1A
34 focal dystonia 9.1 CAMP THAP1 TOR1A
35 segmental dystonia 8.7 CAMP GCH1 THAP1 TOR1A
36 cranio-facial dystonia 8.7 CAMP GCH1 THAP1 TOR1A
37 dystonia 12 8.7 CAMP GCH1 THAP1 TOR1A
38 cervical dystonia 8.7 CAMP GCH1 THAP1 TOR1A
39 hemidystonia 8.7 CAMP GCH1 THAP1 TOR1A
40 dystonia 11, myoclonic 8.7 CAMP GCH1 THAP1 TOR1A

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



Diseases related to Oromandibular Dystonia

Symptoms & Phenotypes for Oromandibular Dystonia

GenomeRNAi Phenotypes related to Oromandibular Dystonia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased vesicular stomatitis virus (VSV) infection GR00241-A-1 8.8 GCH1 NOP56
2 Decreased vesicular stomatitis virus (VSV) infection GR00241-A-2 8.8 NOP56

Drugs & Therapeutics for Oromandibular Dystonia

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 1,Phase 2,Not Applicable 51-84-3 187
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3 Botulinum Toxins Phase 4,Phase 1,Phase 2,Not Applicable
4 Central Nervous System Depressants Phase 4,Phase 2
5 Cholinergic Agents Phase 4,Phase 1,Phase 2,Not Applicable
6 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Not Applicable
7 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
8 Anesthetics Phase 4
9 Anesthetics, Local Phase 4
10 Anti-Arrhythmia Agents Phase 4
11 Diuretics, Potassium Sparing Phase 4
12 Sodium Channel Blockers Phase 4
13 Piracetam Approved, Investigational Phase 2 7491-74-9
14
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
15
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
16 Etiracetam Investigational Phase 2 33996-58-6
17 Anticonvulsants Phase 2
18 Neuroprotective Agents Phase 2
19 Nootropic Agents Phase 2
20 Protective Agents Phase 2
21 abobotulinumtoxinA Phase 1, Phase 2
22 Botulinum Toxins, Type A Phase 1, Phase 2
23 Neuromuscular Agents Phase 1, Phase 2
24 onabotulinumtoxinA Phase 1, Phase 2
25 Antipsychotic Agents Phase 2
26 Dopamine Agents Phase 2
27 Dopamine Antagonists Phase 2
28 Psychotropic Drugs Phase 2
29 Serotonin Agents Phase 2
30 Serotonin Antagonists Phase 2
31 Tranquilizing Agents Phase 2
32
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
33 Dihydroxyphenylalanine

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4 lidocaine;chemodenervation
2 Efficacy of Levetiracetam in Oromandibular and Cranial Dystonia Completed NCT02199509 Phase 2 Levetiracetam
3 Dysport for the Treatment of OMD Completed NCT01921270 Phase 1, Phase 2 Low Dose - AbobotulinumtoxinA
4 An Inpatient Study Of The Efficacy, Safety, And Tolerability Of PF-02545920 In The Treatment Of Acute Exacerbation Of Schizophrenia Completed NCT01175135 Phase 2 PF-02545920;PF-02545920;Placebo;Risperidone
5 Deep Brain Stimulation in Patients With Dystonia Completed NCT00773604 Phase 1, Phase 2
6 An Outpatient Study Of The Efficacy, Safety, And Tolerability Of PF-02545920 In The Adjunctive Treatment Of Sub-Optimally Controlled Symptoms of Schizophrenia Terminated NCT01939548 Phase 2 PF-02545920;Placebo;PF-02545920
7 Outcome of Botulinum Toxin Treatment for Oromandibular Dystonia Completed NCT03363113 Botulinum Toxins
8 Study of Speech Disorders , Voice and Swallowing in Primary Dystonia Oromandibular Completed NCT03380676
9 Botulinum Toxin for the Treatment of Involuntary Movement Disorders Recruiting NCT00001208 Not Applicable
10 Blepharospasm Tools Recruiting NCT02780336
11 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424

Search NIH Clinical Center for Oromandibular Dystonia

Genetic Tests for Oromandibular Dystonia

Genetic tests related to Oromandibular Dystonia:

# Genetic test Affiliating Genes
1 Oromandibular Dystonia 29

Anatomical Context for Oromandibular Dystonia

MalaCards organs/tissues related to Oromandibular Dystonia:

41
Tongue, Brain, Subthalamic Nucleus

Publications for Oromandibular Dystonia

Articles related to Oromandibular Dystonia:

(show top 50) (show all 103)
# Title Authors Year
1
Systematic review of botulinum toxin treatment for oromandibular dystonia. ( 29453996 )
2018
2
Capecitabine-Related Neurotoxicity Presenting as Oromandibular Dystonia. ( 29303645 )
2018
3
Oromandibular Dystonia-Related Temporomandibular Joint Osteoarthritis: A Case History Report. ( 29723311 )
2018
4
Oromandibular Dystonia: Demographics and Clinical Data from 240 Patients. ( 29860784 )
2018
5
Multilingual website and cyberconsultations for oromandibular dystonia. ( 29844890 )
2018
6
Oromandibular dystonia screening questionnaire for differential diagnosis. ( 29717363 )
2018
7
Multidisciplinary management of a partially edentulous patient with oromandibular dystonia: A clinical report. ( 29429838 )
2018
8
Computer-Aided Design/Computer-Assisted Manufacture-Derived Needle Guide for Injection of Botulinum Toxin into the Lateral Pterygoid Muscle in Patients with Oromandibular Dystonia. ( 29694466 )
2018
9
Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia. ( 29542022 )
2018
10
Etiology, Diagnosis and Management of Oromandibular Dystonia: an Update for Stomatologists. ( 28620630 )
2017
11
Perspectives on the Psychosocial Management of Oromandibular Dystonia. ( 28618440 )
2017
12
Persistent oromandibular dystonia and angioedema secondary to haloperidol. ( 28978587 )
2017
13
Cefixime-Induced Oromandibular Dystonia in an Adult: A Case Report. ( 28294072 )
2017
14
Surgical intervention for oromandibular dystonia-related limited mouth opening: Long-term follow-up. ( 27908709 )
2017
15
Sensory trick splint as a multimodal therapy for oromandibular dystonia. ( 29126810 )
2017
16
Management of Oromandibular Dystonia: A Case Report and Literature Update. ( 28706744 )
2017
17
Self-Rated Communication-Related Quality of Life of Individuals With Oromandibular Dystonia Receiving Botulinum Toxin Injections. ( 28654948 )
2017
18
Poster 334 Treatment of Acute Onset Oromandibular Dystonia in a Patient with Basal Ganglia Hemorrhage: A Case Report. ( 27673087 )
2016
19
Management of oromandibular dystonia with botulinum A toxin: a series of cases. ( 27776922 )
2016
20
Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm. ( 26866500 )
2016
21
Effect of botulinum toxin treatment on quality of life in patients with isolated lingual dystonia and oromandibular dystonia affecting the tongue. ( 27278063 )
2016
22
Oromandibular Dystonia: A Case Report of the Lateral Pterygoid Muscle Involvement and Treatment with Botulinum Toxin A. ( 27777710 )
2016
23
Internal Pallidum and Subthalamic Nucleus Deep Brain Stimulation for Oromandibular Dystonia. ( 27364801 )
2016
24
Clinical Characteristics of Voice, Speech, and Swallowing Disorders in Oromandibular Dystonia. ( 27617622 )
2016
25
Oromandibular dystonia: a serious side effect of capecitabine. ( 25850956 )
2015
26
Oromandibular dystonia: differential diagnosis and management. ( 26314978 )
2015
27
Response to zolpidem in oromandibular dystonia: a case report. ( 25443554 )
2015
28
Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case. ( 26431448 )
2015
29
Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia. ( 25609077 )
2015
30
Use of OnabotulinumtoxinA in Post-Traumatic Oromandibular Dystonia. ( 25315313 )
2014
31
Oromandibular dystonia in yemeni patients with khat chewing: a response to botulinum toxin treatment. ( 24987506 )
2014
32
Drug induced oromandibular dystonia: a case related to prolonged use of cetirizine. ( 24656942 )
2014
33
Diffusion tensor imaging in blepharospasm and blepharospasm-oromandibular dystonia. ( 24792726 )
2014
34
Sudden onset of oromandibular dystonia after cerebellar stroke. ( 25374766 )
2014
35
Oromandibular dystonia--functional and clinical characteristics: a report on 21 cases. ( 22999966 )
2013
36
Oromandibular dystonia associated with SCA36. ( 23390045 )
2013
37
Somatosensory input and oromandibular dystonia. ( 23036658 )
2013
38
Oromandibular dystonia: Long-term management with botulinum toxin. ( 24122897 )
2013
39
Dental implants-induced task-specific oromandibular dystonia. ( 23663539 )
2013
40
Teaching video neuroimages: speech-induced oromandibular dystonia relieved by singing. ( 23170018 )
2012
41
Jaw-opening oromandibular dystonia secondary to Wilson's disease treated with botulinum toxin type A. ( 22699536 )
2012
42
Oromandibular dystonia secondary to radiation therapy: a description of 2 cases. ( 22795921 )
2012
43
Surgical management of persistent oromandibular dystonia of the temporalis muscle. ( 20832993 )
2011
44
Highly task-specific oromandibular dystonia in a telephone operator. ( 21914046 )
2011
45
Oromandibular dystonia in encephalitis. ( 21402389 )
2011
46
Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis. ( 21531161 )
2011
47
Efficacy of aripiprazole in sulpiride-induced tardive oromandibular dystonia. ( 21422693 )
2011
48
Oromandibular dystonia treatment following a loss of vertical dimension. ( 21500622 )
2011
49
Oromandibular dystonia: a clinical report. ( 22133391 )
2011
50
Delayed-onset oromandibular dystonia after a cerebellar hemorrhagic stroke. ( 20692865 )
2010

Variations for Oromandibular Dystonia

ClinVar genetic disease variations for Oromandibular Dystonia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO3 NC_012920.1: m.9355A> T single nucleotide variant Uncertain significance GRCh37 Chromosome MT, 9355: 9355
2 MT-CO3 NC_012920.1: m.9355A> T single nucleotide variant Uncertain significance GRCh38 Chromosome MT, 9355: 9355

Expression for Oromandibular Dystonia

Search GEO for disease gene expression data for Oromandibular Dystonia.

Pathways for Oromandibular Dystonia

GO Terms for Oromandibular Dystonia

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

# Name GO ID Score Top Affiliating Genes
1 fibrillar center GO:0001650 8.62 NOP56 THAP1

Sources for Oromandibular 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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