MCID: ORM002
MIFTS: 40

Oromandibular Dystonia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Oromandibular Dystonia

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 depressivity and dysarthria

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 39)
# Related Disease Score Top Affiliating Genes
1 lymphedema, hereditary, ii 32.3 CAMP GCH1 THAP1 TOR1A
2 dystonia 31.2 GCH1 THAP1 TOR1A
3 blepharospasm 30.4 CAMP GCH1 THAP1 TOR1A
4 spasmodic dysphonia 29.8 THAP1 TOR1A
5 dystonia 16 11.4
6 coasy protein-associated neurodegeneration 11.2
7 cerebrotendinous xanthomatosis 10.2
8 xanthomatosis 10.2
9 hemifacial spasm 10.2
10 spinocerebellar ataxia 2 10.0
11 torticollis 10.0
12 ataxia-telangiectasia 10.0
13 neurodegeneration with brain iron accumulation 1 10.0
14 supranuclear palsy, progressive, 1 10.0
15 hemorrhage, intracerebral 10.0
16 osteoarthritis 10.0
17 autosomal dominant cerebellar ataxia 10.0
18 angioedema 10.0
19 cerebellopontine angle meningioma 10.0
20 encephalitis 10.0
21 swallowing disorders 10.0
22 methanol poisoning 10.0
23 dystonia 3, torsion, x-linked 10.0 GCH1 THAP1
24 multifocal dystonia 9.9 CAMP TOR1A
25 thiamine metabolism dysfunction syndrome 2 9.8 GCH1 TOR1A
26 dystonia 24 9.8 THAP1 TOR1A
27 leukodystrophy, hypomyelinating, 2 9.8 GCH1 TOR1A
28 dystonia 1, torsion, autosomal dominant 9.8 CAMP GCH1 TOR1A
29 early-onset generalized dystonia 9.7 GCH1 THAP1 TOR1A
30 spasmodic dystonia 9.7 CAMP THAP1 TOR1A
31 dystonia, dopa-responsive 9.7 GCH1 THAP1 TOR1A
32 movement disease 9.7 GCH1 TOR1A
33 focal hand dystonia 9.7 CAMP THAP1 TOR1A
34 focal dystonia 9.7 CAMP THAP1 TOR1A
35 segmental dystonia 9.6 CAMP GCH1 THAP1 TOR1A
36 dystonia 12 9.6 CAMP GCH1 THAP1 TOR1A
37 cervical dystonia 9.6 CAMP GCH1 THAP1 TOR1A
38 hemidystonia 9.6 CAMP GCH1 THAP1 TOR1A
39 dystonia 11, myoclonic 9.6 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

Human phenotypes related to Oromandibular Dystonia:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 dysarthria 59 32 very rare (1%) Very rare (<4-1%) HP:0001260
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
5 respiratory distress 59 32 very rare (1%) Very rare (<4-1%) HP:0002098
6 pain 59 32 frequent (33%) Frequent (79-30%) HP:0012531
7 blepharospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000643
8 abnormality of the nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000366
9 abnormality of the temporomandibular joint 59 32 frequent (33%) Frequent (79-30%) HP:0010754
10 torticollis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000473
11 generalized dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007325
12 hyperkinesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002487
13 limb dystonia 59 32 very rare (1%) Very rare (<4-1%) HP:0002451
14 laryngeal dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012049
15 lingual dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0031008
16 bruxism 59 32 occasional (7.5%) Occasional (29-5%) HP:0003763
17 facial grimacing 59 32 occasional (7.5%) Occasional (29-5%) HP:0000273
18 dysphonia 59 Frequent (79-30%)
19 chewing difficulties 59 Frequent (79-30%)
20 abnormality of the lip 59 Occasional (29-5%)
21 abnormality of the mandible 59 Frequent (79-30%)
22 abnormal lip morphology 32 occasional (7.5%) HP:0000159
23 impaired mastication 32 frequent (33%) HP:0005216

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 34)
# 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 Cholinergic Agents Phase 4,Phase 1,Phase 2,Not Applicable
4 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
5 Central Nervous System Depressants Phase 4,Phase 2
6 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Not Applicable
7 Acetylcholine Release Inhibitors Phase 4,Phase 1,Phase 2,Not Applicable
8 Botulinum Toxins Phase 4,Phase 1,Phase 2,Not Applicable
9 Diuretics, Potassium Sparing Phase 4
10 Anesthetics, Local Phase 4
11 Anti-Arrhythmia Agents Phase 4
12 Anesthetics Phase 4
13 Sodium Channel Blockers Phase 4
14 Piracetam Approved, Investigational Phase 2 7491-74-9
15
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
16
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
17 Etiracetam Investigational Phase 2 33996-58-6
18 Nootropic Agents Phase 2
19 Anticonvulsants Phase 2
20 Neuroprotective Agents Phase 2
21 Protective Agents Phase 2
22 onabotulinumtoxinA Phase 1, Phase 2
23 abobotulinumtoxinA Phase 1, Phase 2
24 Neuromuscular Agents Phase 1, Phase 2
25 Botulinum Toxins, Type A Phase 1, Phase 2
26 Psychotropic Drugs Phase 2
27 Serotonin Antagonists Phase 2
28 Serotonin Agents Phase 2
29 Dopamine Antagonists Phase 2
30 Tranquilizing Agents Phase 2
31 Antipsychotic Agents Phase 2
32 Dopamine Agents Phase 2
33
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
34 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 109)
# 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
Interdisciplinary recognizing and managing of drug-induced tardive oromandibular dystonia: two case reports. ( 30455910 )
2018
11
The American Academy of Oral Medicine Clinical Practice Statement: Oromandibular dystonia. ( 30084363 )
2018
12
Etiology, Diagnosis and Management of Oromandibular Dystonia: an Update for Stomatologists. ( 28620630 )
2017
13
Perspectives on the Psychosocial Management of Oromandibular Dystonia. ( 28618440 )
2017
14
Persistent oromandibular dystonia and angioedema secondary to haloperidol. ( 28978587 )
2017
15
Cefixime-Induced Oromandibular Dystonia in an Adult: A Case Report. ( 28294072 )
2017
16
Surgical intervention for oromandibular dystonia-related limited mouth opening: Long-term follow-up. ( 27908709 )
2017
17
Sensory trick splint as a multimodal therapy for oromandibular dystonia. ( 29126810 )
2017
18
Management of Oromandibular Dystonia: A Case Report and Literature Update. ( 28706744 )
2017
19
Self-Rated Communication-Related Quality of Life of Individuals With Oromandibular Dystonia Receiving Botulinum Toxin Injections. ( 28654948 )
2017
20
Poster 334 Treatment of Acute Onset Oromandibular Dystonia in a Patient with Basal Ganglia Hemorrhage: A Case Report. ( 27673087 )
2016
21
Management of oromandibular dystonia with botulinum A toxin: a series of cases. ( 27776922 )
2016
22
Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm. ( 26866500 )
2016
23
Effect of botulinum toxin treatment on quality of life in patients with isolated lingual dystonia and oromandibular dystonia affecting the tongue. ( 27278063 )
2016
24
Oromandibular Dystonia: A Case Report of the Lateral Pterygoid Muscle Involvement and Treatment with Botulinum Toxin A. ( 27777710 )
2016
25
Internal Pallidum and Subthalamic Nucleus Deep Brain Stimulation for Oromandibular Dystonia. ( 27364801 )
2016
26
Clinical Characteristics of Voice, Speech, and Swallowing Disorders in Oromandibular Dystonia. ( 27617622 )
2016
27
Oromandibular dystonia: a serious side effect of capecitabine. ( 25850956 )
2015
28
Oromandibular dystonia: differential diagnosis and management. ( 26314978 )
2015
29
Response to zolpidem in oromandibular dystonia: a case report. ( 25443554 )
2015
30
Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case. ( 26431448 )
2015
31
Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia. ( 25609077 )
2015
32
Oromandibular Dystonia in Wilson's Disease. ( 30363463 )
2015
33
Use of OnabotulinumtoxinA in Post-Traumatic Oromandibular Dystonia. ( 25315313 )
2014
34
Oromandibular dystonia in yemeni patients with khat chewing: a response to botulinum toxin treatment. ( 24987506 )
2014
35
Drug induced oromandibular dystonia: a case related to prolonged use of cetirizine. ( 24656942 )
2014
36
Diffusion tensor imaging in blepharospasm and blepharospasm-oromandibular dystonia. ( 24792726 )
2014
37
Oromandibular dystonia secondary to radiation therapy: a description of 2 cases. ( 22795921 )
2014
38
Sudden onset of oromandibular dystonia after cerebellar stroke. ( 25374766 )
2014
39
Jaw-Opening Oromandibular Dystonia Associated With Spinocerebellar Ataxia Type 2. ( 30363865 )
2014
40
Characteristic "Forcible" Geste Antagoniste in Oromandibular Dystonia Resulting From Pantothenate Kinase-Associated Neurodegeneration. ( 30363940 )
2014
41
Oromandibular dystonia--functional and clinical characteristics: a report on 21 cases. ( 22999966 )
2013
42
Oromandibular dystonia associated with SCA36. ( 23390045 )
2013
43
Somatosensory input and oromandibular dystonia. ( 23036658 )
2013
44
Oromandibular dystonia: Long-term management with botulinum toxin. ( 24122897 )
2013
45
Dental implants-induced task-specific oromandibular dystonia. ( 23663539 )
2013
46
Teaching video neuroimages: speech-induced oromandibular dystonia relieved by singing. ( 23170018 )
2012
47
Jaw-opening oromandibular dystonia secondary to Wilson's disease treated with botulinum toxin type A. ( 22699536 )
2012
48
Surgical management of persistent oromandibular dystonia of the temporalis muscle. ( 20832993 )
2011
49
Highly task-specific oromandibular dystonia in a telephone operator. ( 21914046 )
2011
50
Oromandibular dystonia in encephalitis. ( 21402389 )
2011

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

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

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 8.62 NOP56 TSR2

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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