MCID: ORM002
MIFTS: 44

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 51)
# Related Disease Score Top Affiliating Genes
1 dystonia 31.2 GCH1 MT-ND3 MT-ND4
2 blepharospasm 31.1 CAMP GCH1
3 ataxia and polyneuropathy, adult-onset 28.9 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 torticollis 10.1
14 ataxia-telangiectasia 10.1
15 neurodegeneration with brain iron accumulation 1 10.1
16 supranuclear palsy, progressive, 1 10.1
17 osteoarthritis 10.1
18 angioedema 10.1
19 cerebellopontine angle meningioma 10.1
20 encephalitis 10.1
21 spasmodic dysphonia 10.1
22 swallowing disorders 10.1
23 methanol poisoning 10.1
24 segmental dystonia 10.1 CAMP GCH1
25 dystonia 12 10.0 CAMP GCH1
26 dystonia 1, torsion, autosomal dominant 10.0 CAMP GCH1
27 cervical dystonia 10.0 CAMP GCH1
28 hemidystonia 10.0 CAMP GCH1
29 dystonia 11, myoclonic 9.9 CAMP GCH1
30 leber optic atrophy and dystonia 9.9 MT-ND3 MT-ND4
31 sparganosis 9.9 MT-ND3 MT-ND4
32 mitochondrial dna depletion syndrome 1 9.8 MT-ATP6 MT-CO3 MT-ND3
33 kearns-sayre syndrome 9.7 MT-ATP6 MT-ND4
34 lactic acidosis 9.6 MT-ATP6 MT-CO3 MT-ND4
35 mitochondrial myopathy 9.6 MT-ATP6 MT-CO3 MT-ND4
36 mitochondrial metabolism disease 9.6 MT-ATP6 MT-ND3 MT-ND4
37 deafness, nonsyndromic sensorineural, mitochondrial 9.6 MT-ATP6 MT-CO3 MT-ND4
38 optic nerve disease 9.5 MT-ATP6 MT-ND4 MT-ND4L
39 mitochondrial complex iv deficiency 9.5 MT-CO3 MT-ND4
40 cardiomyopathy, infantile hypertrophic 9.5 MT-ATP6 MT-CO3 MT-ND3 MT-ND4L
41 striatonigral degeneration, infantile 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
42 striatonigral degeneration, infantile, mitochondrial 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
43 myopathy, lactic acidosis, and sideroblastic anemia 3 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
44 myopathy, lactic acidosis, and sideroblastic anemia 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
45 leber optic atrophy 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
46 familial colorectal cancer 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
47 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
48 mitochondrial encephalomyopathy 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
49 leber hereditary optic neuropathy 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
50 leigh syndrome 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 laryngeal dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0012049
13 lingual dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0031008
14 bruxism 60 33 occasional (7.5%) Occasional (29-5%) HP:0003763
15 facial grimacing 60 33 occasional (7.5%) Occasional (29-5%) HP:0000273
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 chewing difficulties 60 Frequent (79-30%)
22 abnormality of the lip 60 Occasional (29-5%)
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 Central Nervous System Depressants Phase 4,Phase 2
4 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
5 Botulinum Toxins Phase 4,Phase 1,Phase 2,Not Applicable
6 Acetylcholine Release Inhibitors Phase 4,Phase 1,Phase 2,Not Applicable
7 Anti-Arrhythmia Agents Phase 4
8 Cholinergic Agents Phase 4,Phase 1,Phase 2,Not Applicable
9 Sodium Channel Blockers Phase 4
10 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Not Applicable
11 Anesthetics Phase 4
12 Anesthetics, Local Phase 4
13 Diuretics, Potassium Sparing 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 Anticonvulsants Phase 2
18 Nootropic Agents Phase 2
19 Neuromuscular Agents Phase 1, Phase 2
20 abobotulinumtoxinA Phase 1, Phase 2
21 Botulinum Toxins, Type A Phase 1, Phase 2
22 Antipsychotic Agents Phase 2
23 Dopamine Antagonists Phase 2
24 Tranquilizing Agents Phase 2
25 Dopamine Agents Phase 2
26 Serotonin Agents Phase 2
27 Serotonin Antagonists Phase 2
28 Psychotropic Drugs 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 Neuromuscular Electrical Stimulation for Jaw-closing Dystonia Recruiting NCT03889704 Not Applicable
9 Botulinum Toxin for the Treatment of Involuntary Movement Disorders Recruiting NCT00001208 Not Applicable
10 Deep Brain Stimulation in Patients With Dystonia Completed NCT00773604 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 113)
# Title Authors Year
1
Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia. ( 30809419 )
2019
2
Botulinum neurotoxin a therapy efficacy and safety for oromandibular dystonia: a meta-analysis. ( 30604200 )
2019
3
Oromandibular dystonia, mental distress and orofacial dysfunction - a follow-up 8-10 years after start of treatment with botulinum toxin. ( 30664806 )
2019
4
Systematic review of botulinum toxin treatment for oromandibular dystonia. ( 29453996 )
2018
5
Capecitabine-Related Neurotoxicity Presenting as Oromandibular Dystonia. ( 29303645 )
2018
6
Oromandibular Dystonia-Related Temporomandibular Joint Osteoarthritis: A Case History Report. ( 29723311 )
2018
7
Oromandibular Dystonia: Demographics and Clinical Data from 240 Patients. ( 29860784 )
2018
8
Multilingual website and cyberconsultations for oromandibular dystonia. ( 29844890 )
2018
9
Oromandibular dystonia screening questionnaire for differential diagnosis. ( 29717363 )
2018
10
Multidisciplinary management of a partially edentulous patient with oromandibular dystonia: A clinical report. ( 29429838 )
2018
11
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
12
Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia. ( 29542022 )
2018
13
Interdisciplinary recognizing and managing of drug-induced tardive oromandibular dystonia: two case reports. ( 30455910 )
2018
14
Oromandibular Dystonia Related to Sertraline Treatment in a Child. ( 30575411 )
2018
15
The American Academy of Oral Medicine Clinical Practice Statement: Oromandibular dystonia. ( 30084363 )
2018
16
Etiology, Diagnosis and Management of Oromandibular Dystonia: an Update for Stomatologists. ( 28620630 )
2017
17
Perspectives on the Psychosocial Management of Oromandibular Dystonia. ( 28618440 )
2017
18
Persistent oromandibular dystonia and angioedema secondary to haloperidol. ( 28978587 )
2017
19
Cefixime-Induced Oromandibular Dystonia in an Adult: A Case Report. ( 28294072 )
2017
20
Surgical intervention for oromandibular dystonia-related limited mouth opening: Long-term follow-up. ( 27908709 )
2017
21
Sensory trick splint as a multimodal therapy for oromandibular dystonia. ( 29126810 )
2017
22
Management of Oromandibular Dystonia: A Case Report and Literature Update. ( 28706744 )
2017
23
Self-Rated Communication-Related Quality of Life of Individuals With Oromandibular Dystonia Receiving Botulinum Toxin Injections. ( 28654948 )
2017
24
Poster 334 Treatment of Acute Onset Oromandibular Dystonia in a Patient with Basal Ganglia Hemorrhage: A Case Report. ( 27673087 )
2016
25
Management of oromandibular dystonia with botulinum A toxin: a series of cases. ( 27776922 )
2016
26
Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm. ( 26866500 )
2016
27
Effect of botulinum toxin treatment on quality of life in patients with isolated lingual dystonia and oromandibular dystonia affecting the tongue. ( 27278063 )
2016
28
Oromandibular Dystonia: A Case Report of the Lateral Pterygoid Muscle Involvement and Treatment with Botulinum Toxin A. ( 27777710 )
2016
29
Internal Pallidum and Subthalamic Nucleus Deep Brain Stimulation for Oromandibular Dystonia. ( 27364801 )
2016
30
Clinical Characteristics of Voice, Speech, and Swallowing Disorders in Oromandibular Dystonia. ( 27617622 )
2016
31
Oromandibular dystonia: a serious side effect of capecitabine. ( 25850956 )
2015
32
Oromandibular dystonia: differential diagnosis and management. ( 26314978 )
2015
33
Response to zolpidem in oromandibular dystonia: a case report. ( 25443554 )
2015
34
Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case. ( 26431448 )
2015
35
Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia. ( 25609077 )
2015
36
Oromandibular Dystonia in Wilson's Disease. ( 30363463 )
2015
37
Use of OnabotulinumtoxinA in Post-Traumatic Oromandibular Dystonia. ( 25315313 )
2014
38
Oromandibular dystonia in yemeni patients with khat chewing: a response to botulinum toxin treatment. ( 24987506 )
2014
39
Drug induced oromandibular dystonia: a case related to prolonged use of cetirizine. ( 24656942 )
2014
40
Diffusion tensor imaging in blepharospasm and blepharospasm-oromandibular dystonia. ( 24792726 )
2014
41
Sudden onset of oromandibular dystonia after cerebellar stroke. ( 25374766 )
2014
42
Jaw-Opening Oromandibular Dystonia Associated With Spinocerebellar Ataxia Type 2. ( 30363865 )
2014
43
Characteristic "Forcible" Geste Antagoniste in Oromandibular Dystonia Resulting From Pantothenate Kinase-Associated Neurodegeneration. ( 30363940 )
2014
44
Oromandibular dystonia--functional and clinical characteristics: a report on 21 cases. ( 22999966 )
2013
45
Oromandibular dystonia associated with SCA36. ( 23390045 )
2013
46
Somatosensory input and oromandibular dystonia. ( 23036658 )
2013
47
Oromandibular dystonia: Long-term management with botulinum toxin. ( 24122897 )
2013
48
Dental implants-induced task-specific oromandibular dystonia. ( 23663539 )
2013
49
Teaching video neuroimages: speech-induced oromandibular dystonia relieved by singing. ( 23170018 )
2012
50
Jaw-opening oromandibular dystonia secondary to Wilson's disease treated with botulinum toxin type A. ( 22699536 )
2012

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 oxidoreductase activity GO:0016491 9.13 MT-ND3 MT-ND4 MT-ND4L
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND3 MT-ND4 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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