MCID: ORM002
MIFTS: 43

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 dystonia and blepharospasm. An important gene associated with Oromandibular Dystonia is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 dysphagia

Wikipedia : 77 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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 dystonia 31.3 GCH1 MT-ND3 MT-ND4
2 blepharospasm 31.1 CAMP GCH1
3 ataxia and polyneuropathy, adult-onset 28.8 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
4 lymphatic malformation 5 12.3
5 dystonia 16 11.2
6 coasy protein-associated neurodegeneration 11.2
7 dyt-prkra 11.2
8 spinocerebellar ataxia 2 10.2
9 cerebrotendinous xanthomatosis 10.2
10 xanthomatosis 10.2
11 autosomal dominant cerebellar ataxia 10.2
12 hemifacial spasm 10.2
13 segmental dystonia 10.1 CAMP GCH1
14 dystonia, dopa-responsive 10.1
15 torticollis 10.1
16 abetalipoproteinemia 10.1
17 ataxia-telangiectasia 10.1
18 neurodegeneration with brain iron accumulation 1 10.1
19 supranuclear palsy, progressive, 1 10.1
20 spinocerebellar ataxia 36 10.1
21 osteoarthritis 10.1
22 telangiectasis 10.1
23 choreatic disease 10.1
24 angioedema 10.1
25 cerebellopontine angle meningioma 10.1
26 encephalitis 10.1
27 spasmodic dysphonia 10.1
28 swallowing disorders 10.1
29 methanol poisoning 10.1
30 dystonia 12 10.0 CAMP GCH1
31 dystonia 1, torsion, autosomal dominant 10.0 CAMP GCH1
32 cervical dystonia 10.0 CAMP GCH1
33 leber optic atrophy and dystonia 10.0 MT-ND3 MT-ND4
34 sparganosis 10.0 MT-ND3 MT-ND4
35 hemidystonia 10.0 CAMP GCH1
36 dystonia 11, myoclonic 9.9 CAMP GCH1
37 kearns-sayre syndrome 9.9 MT-ATP6 MT-ND4
38 optic nerve disease 9.8 MT-ATP6 MT-ND4 MT-ND4L
39 mitochondrial metabolism disease 9.7 MT-ATP6 MT-ND3 MT-ND4
40 lactic acidosis 9.7 MT-ATP6 MT-CO3 MT-ND4
41 mitochondrial myopathy 9.7 MT-ATP6 MT-CO3 MT-ND4
42 deafness, nonsyndromic sensorineural, mitochondrial 9.7 MT-ATP6 MT-CO3 MT-ND4
43 mitochondrial dna depletion syndrome 1 9.6 MT-ATP6 MT-CO3 MT-ND3
44 mitochondrial complex iv deficiency 9.5 MT-CO3 MT-ND4
45 cardiomyopathy, infantile hypertrophic 9.3 MT-ATP6 MT-CO3 MT-ND3 MT-ND4L
46 striatonigral degeneration, infantile 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
47 striatonigral degeneration, infantile, mitochondrial 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
48 myopathy, lactic acidosis, and sideroblastic anemia 3 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
49 myopathy, lactic acidosis, and sideroblastic anemia 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
50 leber optic atrophy 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L

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:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
2 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
3 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
4 pain 60 33 frequent (33%) Frequent (79-30%) HP:0012531
5 abnormality of the temporomandibular joint 60 33 frequent (33%) Frequent (79-30%) HP:0010754
6 impaired mastication 33 frequent (33%) HP:0005216
7 blepharospasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0000643
8 abnormality of the nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0000366
9 torticollis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000473
10 generalized dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007325
11 hyperkinesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002487
12 lingual dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0031008
13 facial grimacing 60 33 occasional (7.5%) Occasional (29-5%) HP:0000273
14 laryngeal dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0012049
15 bruxism 60 33 occasional (7.5%) Occasional (29-5%) HP:0003763
16 abnormal lip morphology 33 occasional (7.5%) HP:0000159
17 dysarthria 60 33 very rare (1%) Very rare (<4-1%) HP:0001260
18 respiratory distress 60 33 very rare (1%) Very rare (<4-1%) HP:0002098
19 limb dystonia 60 33 very rare (1%) Very rare (<4-1%) HP:0002451
20 dysphonia 60 Frequent (79-30%)
21 abnormality of the lip 60 Occasional (29-5%)
22 chewing difficulties 60 Frequent (79-30%)
23 abnormality of the mandible 60 Frequent (79-30%)

Drugs & Therapeutics for Oromandibular Dystonia

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational 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 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
6 Acetylcholine Release Inhibitors Phase 4,Phase 1,Phase 2,Not Applicable
7 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Not Applicable
8 Cholinergic Agents Phase 4,Phase 1,Phase 2,Not Applicable
9 Anesthetics Phase 4
10 Anesthetics, Local Phase 4
11 Sodium Channel Blockers Phase 4
12 Diuretics, Potassium Sparing Phase 4
13 Anti-Arrhythmia Agents Phase 4
14
Levetiracetam Approved, Investigational Phase 2 102767-28-2 441341
15
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
16
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
17 Nootropic Agents Phase 2
18 Anticonvulsants Phase 2
19 Botulinum Toxins, Type A Phase 1, Phase 2
20 abobotulinumtoxinA Phase 1, Phase 2
21 Neuromuscular Agents Phase 1, Phase 2
22 Serotonin Antagonists Phase 2
23 Psychotropic Drugs Phase 2
24 Dopamine Antagonists Phase 2
25 Tranquilizing Agents Phase 2
26 Dopamine Agents Phase 2
27 Serotonin Agents Phase 2
28 Antipsychotic Agents Phase 2
29
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
30 Dihydroxyphenylalanine

Interventional clinical trials:

(show all 12)
# 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 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
6 Outcome of Botulinum Toxin Treatment for Oromandibular Dystonia Completed NCT03363113 Botulinum Toxins
7 Study of Speech Disorders , Voice and Swallowing in Primary Dystonia Oromandibular Completed NCT03380676
8 Deep Brain Stimulation in Patients With Dystonia Completed NCT00773604 Not Applicable
9 Neuromuscular Electrical Stimulation for Jaw-closing Dystonia Recruiting NCT03889704 Not Applicable
10 Botulinum Toxin for the Treatment of Involuntary Movement Disorders Recruiting NCT00001208 Not Applicable
11 Blepharospasm Tools Recruiting NCT02780336
12 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 30

Anatomical Context for Oromandibular Dystonia

MalaCards organs/tissues related to Oromandibular Dystonia:

42
Tongue, Brain, Subthalamic Nucleus

Publications for Oromandibular Dystonia

Articles related to Oromandibular Dystonia:

(show top 50) (show all 117)
# Title Authors Year
1
Task-Specific Oromandibular Dystonia in a Telemarketer. ( 30944289 )
2019
2
Oromandibular Dystonia Causing Recurrent Mandibular Open Lock in Two Adolescents Managed with Botulinum Toxin. ( 30992101 )
2019
3
Tongue base retraction and airway obstruction in drug-induced oromandibular dystonia. ( 31036570 )
2019
4
Prominent Oromandibular Dystonia as Levodopa-induced Dyskinesia in Idiopathic Parkinson's Disease. ( 31061844 )
2019
5
Botulinum neurotoxin a therapy efficacy and safety for oromandibular dystonia: a meta-analysis. ( 30604200 )
2019
6
Oromandibular dystonia, mental distress and orofacial dysfunction - a follow-up 8-10 years after start of treatment with botulinum toxin. ( 30664806 )
2019
7
Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia. ( 30809419 )
2019
8
Oromandibular dystonia screening questionnaire for differential diagnosis. ( 29717363 )
2019
9
Interdisciplinary recognizing and managing of drug-induced tardive oromandibular dystonia: two case reports. ( 30455910 )
2018
10
Oromandibular Dystonia Related to Sertraline Treatment in a Child. ( 30575411 )
2018
11
Multilingual website and cyberconsultations for oromandibular dystonia. ( 29844890 )
2018
12
Oromandibular Dystonia: Demographics and Clinical Data from 240 Patients. ( 29860784 )
2018
13
The American Academy of Oral Medicine Clinical Practice Statement: Oromandibular dystonia. ( 30084363 )
2018
14
Capecitabine-Related Neurotoxicity Presenting as Oromandibular Dystonia. ( 29303645 )
2018
15
Multidisciplinary management of a partially edentulous patient with oromandibular dystonia: A clinical report. ( 29429838 )
2018
16
Systematic review of botulinum toxin treatment for oromandibular dystonia. ( 29453996 )
2018
17
Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia. ( 29542022 )
2018
18
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
19
Oromandibular Dystonia-Related Temporomandibular Joint Osteoarthritis: A Case History Report. ( 29723311 )
2018
20
Sensory trick splint as a multimodal therapy for oromandibular dystonia. ( 29126810 )
2018
21
Persistent oromandibular dystonia and angioedema secondary to haloperidol. ( 28978587 )
2017
22
Cefixime-Induced Oromandibular Dystonia in an Adult: A Case Report. ( 28294072 )
2017
23
Perspectives on the Psychosocial Management of Oromandibular Dystonia. ( 28618440 )
2017
24
Etiology, Diagnosis and Management of Oromandibular Dystonia: an Update for Stomatologists. ( 28620630 )
2017
25
Self-Rated Communication-Related Quality of Life of Individuals With Oromandibular Dystonia Receiving Botulinum Toxin Injections. ( 28654948 )
2017
26
Management of Oromandibular Dystonia: A Case Report and Literature Update. ( 28706744 )
2017
27
Surgical intervention for oromandibular dystonia-related limited mouth opening: Long-term follow-up. ( 27908709 )
2017
28
Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm. ( 26866500 )
2016
29
Clinical Characteristics of Voice, Speech, and Swallowing Disorders in Oromandibular Dystonia. ( 27617622 )
2016
30
Management of oromandibular dystonia with botulinum A toxin: a series of cases. ( 27776922 )
2016
31
Oromandibular Dystonia: A Case Report of the Lateral Pterygoid Muscle Involvement and Treatment with Botulinum Toxin A. ( 27777710 )
2016
32
Effect of botulinum toxin treatment on quality of life in patients with isolated lingual dystonia and oromandibular dystonia affecting the tongue. ( 27278063 )
2016
33
Internal Pallidum and Subthalamic Nucleus Deep Brain Stimulation for Oromandibular Dystonia. ( 27364801 )
2016
34
Poster 334 Treatment of Acute Onset Oromandibular Dystonia in a Patient with Basal Ganglia Hemorrhage: A Case Report. ( 27673087 )
2016
35
Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case. ( 26431448 )
2016
36
Oromandibular dystonia: differential diagnosis and management. ( 26314978 )
2015
37
Oromandibular dystonia: a serious side effect of capecitabine. ( 25850956 )
2015
38
Oromandibular Dystonia in Wilson's Disease. ( 30363463 )
2015
39
Use of onabotulinumtoxinA in post-traumatic oromandibular dystonia. ( 25315313 )
2015
40
Response to zolpidem in oromandibular dystonia: a case report. ( 25443554 )
2015
41
Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia. ( 25609077 )
2015
42
Diffusion tensor imaging in blepharospasm and blepharospasm-oromandibular dystonia. ( 24792726 )
2014
43
Sudden onset of oromandibular dystonia after cerebellar stroke. ( 25374766 )
2014
44
Oromandibular dystonia in yemeni patients with khat chewing: a response to botulinum toxin treatment. ( 24987506 )
2014
45
Jaw-Opening Oromandibular Dystonia Associated With Spinocerebellar Ataxia Type 2. ( 30363865 )
2014
46
Characteristic "Forcible" Geste Antagoniste in Oromandibular Dystonia Resulting From Pantothenate Kinase-Associated Neurodegeneration. ( 30363940 )
2014
47
Drug induced oromandibular dystonia: a case related to prolonged use of cetirizine. ( 24656942 )
2014
48
Oromandibular dystonia secondary to radiation therapy: a description of 2 cases. ( 22795921 )
2014
49
Oromandibular dystonia: long-term management with botulinum toxin. ( 24122897 )
2013
50
Dental implants-induced task-specific oromandibular dystonia. ( 23663539 )
2013

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 rs1556423663 GRCh37 Chromosome MT, 9355: 9355
2 MT-CO3 NC_012920.1: m.9355A> T single nucleotide variant Uncertain significance rs1556423663 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 mitochondrial inner membrane GO:0005743 9.56 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
2 mitochondrial membrane GO:0031966 9.5 MT-ND3 MT-ND4 MT-ND4L
3 respiratory chain GO:0070469 9.33 MT-ND3 MT-ND4 MT-ND4L
4 mitochondrial respiratory chain complex I GO:0005747 9.13 MT-ND3 MT-ND4 MT-ND4L
5 NADH dehydrogenase complex GO:0030964 8.62 MT-ND3 MT-ND4L

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.5 MT-ND3 MT-ND4 MT-ND4L
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND3 MT-ND4
3 aerobic respiration GO:0009060 9.16 MT-CO3 MT-ND4
4 ATP synthesis coupled electron transport GO:0042773 8.96 MT-ND4 MT-ND4L
5 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.8 MT-ND3 MT-ND4 MT-ND4L

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

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND3 MT-ND4 MT-ND4L
2 oxidoreductase activity GO:0016491 8.65 MT-ND4L

Sources for Oromandibular Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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