MCID: ORM002
MIFTS: 41

Oromandibular Dystonia

Categories: Neuronal diseases, Oral diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Oromandibular Dystonia

MalaCards integrated aliases for Oromandibular Dystonia:

Name: Oromandibular Dystonia 12 58 29 6 15

Classifications:

Orphanet: 58  
Rare neurological diseases


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 lymphatic malformation 5 and neurodegeneration with brain iron accumulation 6. An important gene associated with Oromandibular Dystonia is GCH1 (GTP Cyclohydrolase 1). The drugs Acetylcholine and Levetiracetam have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and eye, and related phenotypes are depressivity and dysphagia

Wikipedia : 73 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 111)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 5 32.7 TOR1A THAP1 SGCE
2 neurodegeneration with brain iron accumulation 6 30.7 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
3 torticollis 30.5 TOR1A CIZ1
4 spasmodic dysphonia 30.4 TUBB4A TOR1A THAP1
5 dystonia, dopa-responsive 29.9 TOR1A THAP1 SGCE GCH1 ATP1A3
6 lingual-facial-buccal dyskinesia 29.8 VPS13A PANK2
7 blepharospasm 29.7 TOR1A THAP1 SGCE PANK2 GNAL GCH1
8 focal dystonia 29.3 TUBB4A TOR1A THAP1 SGCE PANK2 GNAL
9 cervical dystonia 29.3 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
10 segmental dystonia 28.8 TUBB4A TOR1A THAP1 SGCE GNAL GCH1
11 neurodegeneration with brain iron accumulation 1 27.9 VPS13A TOR1A PLA2G6 PANK2 FA2H CP
12 aceruloplasminemia 27.8 VPS13A PLA2G6 PANK2 FA2H CP CIZ1
13 choreatic disease 27.6 VPS13A TOR1A THAP1 SGCE PANK2 GNAL
14 dystonia 27.4 VPS13A TUBB4A TOR1A THAP1 SGCE PLA2G6
15 movement disease 26.9 VPS13A TOR1A THAP1 SGCE PLA2G6 PANK2
16 dystonia 16 11.3
17 blepharospasm, benign essential 11.1
18 dysphagia 10.5
19 tremor 10.4
20 bruxism 10.3
21 ataxia and polyneuropathy, adult-onset 10.3
22 parkinsonism 10.3
23 cranio-facial dystonia 10.3 TOR1A THAP1
24 oculogyric crisis 10.2 GCH1 ATP1A3
25 dystonia 23 10.2 CIZ1 ANO3
26 dystonia 6, torsion 10.2 THAP1 CIZ1
27 hemifacial spasm, familial 10.1
28 spinocerebellar ataxia 2 10.1
29 cerebrotendinous xanthomatosis 10.1
30 xanthomatosis 10.1
31 chorea, childhood-onset, with psychomotor retardation 10.1
32 sleep apnea 10.1
33 apraxia 10.1
34 autosomal dominant cerebellar ataxia 10.1
35 hemifacial spasm 10.1
36 congenital disorder of glycosylation, type ip 10.1 PANK2 C19orf12
37 hereditary lymphedema ii 10.1 TOR1A THAP1 SGCE
38 dystonia 24 10.0 THAP1 GNAL ANO3
39 leber optic atrophy and dystonia 10.0 SGCE PLA2G6 GCH1
40 optic nerve disease 10.0 MT-CO3 C19orf12 ATP1A3
41 dystonia 27 10.0 GNAL CIZ1 ANO3
42 multiple system atrophy 1 10.0
43 abetalipoproteinemia 10.0
44 ataxia-telangiectasia 10.0
45 ocular motor apraxia 10.0
46 tardive dyskinesia 10.0
47 dystonia 9 10.0
48 supranuclear palsy, progressive, 1 10.0
49 neuronal intranuclear inclusion disease 10.0
50 meningioma, familial 10.0

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
2 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
3 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
4 impaired mastication 58 31 frequent (33%) Frequent (79-30%) HP:0005216
5 pain 58 31 frequent (33%) Frequent (79-30%) HP:0012531
6 abnormality of the temporomandibular joint 58 31 frequent (33%) Frequent (79-30%) HP:0010754
7 abnormal lip morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000159
8 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
9 abnormality of the nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000366
10 generalized dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007325
11 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
12 facial grimacing 58 31 occasional (7.5%) Occasional (29-5%) HP:0000273
13 bruxism 58 31 occasional (7.5%) Occasional (29-5%) HP:0003763
14 hyperkinetic movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0002487
15 laryngeal dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012049
16 lingual dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031008
17 dysarthria 58 31 very rare (1%) Very rare (<4-1%) HP:0001260
18 respiratory distress 58 31 very rare (1%) Very rare (<4-1%) HP:0002098
19 limb dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0002451
20 dysphonia 58 Frequent (79-30%)
21 abnormality of the mandible 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Oromandibular Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ATP13A2 ATP1A3 CIZ1 CP FA2H GCH1
2 nervous system MP:0003631 9.4 ATP13A2 ATP1A3 CP FA2H GCH1 PANK2

Drugs & Therapeutics for Oromandibular Dystonia

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 1, Phase 2 51-84-3 187
2
Levetiracetam Approved Phase 2 102767-28-2 441341
3 Cholinergic Agents Phase 1, Phase 2
4 Neurotransmitter Agents Phase 1, Phase 2
5 Botulinum Toxins Phase 1, Phase 2
6 Anticonvulsants Phase 2
7 Nootropic Agents Phase 2
8 abobotulinumtoxinA Phase 1, Phase 2
9 Botulinum Toxins, Type A Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Levetiracetam in Oromandibular and Cranial Dystonia: A Randomized, Double-Blind Placebo-Controlled Cross-Over Study Completed NCT02199509 Phase 2 Levetiracetam
2 A Pilot Dose Ranging Study of Dysport® (AbobotulinumtoxinA) in the Treatment of Oromandibular Dystonia Completed NCT01921270 Phase 1, Phase 2 Low Dose - AbobotulinumtoxinA
3 Outcome of Botulinum Toxin Treatment for Oromandibular Dystonia Completed NCT03363113 Botulinum Toxins

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:

40
Tongue, Brain, Eye, Globus Pallidus, Subthalamic Nucleus, Bone

Publications for Oromandibular Dystonia

Articles related to Oromandibular Dystonia:

(show top 50) (show all 337)
# Title Authors PMID Year
1
Munchausen syndrome: report of a case and implications for dentists. 61
33661116 2021
2
Temporomandibular disorder-related characteristics and treatment outcomes in Oromandibular Dystonia patients in two different clinical settings: A cross-sectional study. 61
33682178 2021
3
[Therapeutic strategies for oromandibular dystonia]. 61
33638139 2021
4
Exploring the Psychosocial Impact of Botulinum Toxin Type A Injections for Individuals With Oromandibular Dystonia: A Qualitative Study of Patients' Experiences. 61
33647215 2021
5
Expanding the clinical spectrum of adult-onset neuronal intranuclear inclusion disease. 61
33625684 2021
6
Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset. 61
33679585 2021
7
Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism. 61
33334627 2020
8
Refractory dry eye disease associated with Meige's syndrome induced by long-term use of an atypical antipsychotic. 61
33267850 2020
9
Cervical dystonia: factors deteriorating patient satisfaction of long-term treatment with botulinum toxin. 61
32693754 2020
10
Movement disorders in children with congenital Zika virus syndrome. 61
32682638 2020
11
Orofacial dystonia and asssociated bulbar symptoms in multiple system atrophy: A blinded video analysis. 61
32622521 2020
12
A Case of Meige Syndrome Treated With Baclofen. 61
33101815 2020
13
Oral appliances in the treatment of oromandibular dystonia: a systematic review. 61
32594465 2020
14
Prevalence and clinical characteristics of patients with oromandibular dystonia seen in the orofacial pain clinic: a retrospective study. 61
32540317 2020
15
Obstructive sleep apnea due to oromandibular dystonia and treated with botulinum toxin. 61
32248896 2020
16
Jaw Pain and Oromandibular Dysfunction Following a Complex Hospital Course: A Clinical Vignette. 61
32732743 2020
17
Distribution of temporomandibular disorders among sleep bruxers and non-bruxers-A polysomnographic study. 61
32119142 2020
18
[ADCY5-associated dyskinesia in young children: a case report of a family and an updated review]. 61
32627162 2020
19
Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration. 61
32043823 2020
20
Oromandibular dystonia: a diagnosis not to miss. 61
32143935 2020
21
Treatment of Blepharospasm and Oromandibular Dystonia with Botulinum Toxins. 61
32331272 2020
22
[Dementia with Lewy bodies in a patient with oromandibular dystonia]. 61
32790984 2020
23
Development and Validation of a Disease-Specific Oromandibular Dystonia Rating Scale (OMDRS). 61
33224096 2020
24
Case Report: Isolated Lingual Dystonia. 61
33145008 2020
25
The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism. 61
33326973 2020
26
Therapy-refractory schizophrenia in a patient who previously suffered from Meige's syndrome. 61
31743613 2019
27
Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients. 61
31745482 2019
28
Deep brain stimulation for Meige syndrome: a meta-analysis with individual patient data. 61
31302747 2019
29
The Consequences of Oromandibular Dystonia on Communicative Participation: A Qualitative Study of the Insider's Experiences. 61
31306592 2019
30
Refractory Open Jaw Oromandibular Tardive Dystonia with a Sensory Trick, Treated with Botulinum Toxin: A Case Report. 61
31512647 2019
31
Task-Specific Oromandibular Dystonia in a Telemarketer. 61
30944289 2019
32
Oromandibular dystonia, mental distress and oro-facial dysfunction-A follow-up 8-10 years after start of treatment with botulinum toxin. 61
30664806 2019
33
Prominent Oromandibular Dystonia as Levodopa-induced Dyskinesia in Idiopathic Parkinson's Disease. 61
31061844 2019
34
Tongue base retraction and airway obstruction in drug-induced oromandibular dystonia. 61
31036570 2019
35
Isolated Lingual Dystonia as the Manifestation of Acute Extrapyramidal Syndrome Induced by Metoclopramide. 61
31001033 2019
36
Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report. 61
30837005 2019
37
Oromandibular Dystonia Related to Sertraline Treatment in a Child. 61
30575411 2019
38
Mandibular Bone Loss after Masticatory Muscles Intervention with Botulinum Toxin: An Approach from Basic Research to Clinical Findings. 61
30717172 2019
39
Botulinum neurotoxin a therapy efficacy and safety for oromandibular dystonia: a meta-analysis. 61
30604200 2019
40
Setting the record straight: The nosology of tardive syndromes. 61
30528171 2019
41
Facial grimacing and clinical correlates in spinocerebellar ataxia type 3. 61
30616057 2019
42
Criminal Behaviour Associated with a Novel Mutation in the VPS13A-Gene Causing Chorea-Acanthocytosis. 61
31139485 2019
43
Dental appliance therapy in pantothenate kinase-associated neurodegeneration: Case report. 61
30418671 2019
44
Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia. 61
30809419 2019
45
Botulinum Neurotoxin Therapy for Lingual Dystonia Using an Individualized Injection Method Based on Clinical Features. 61
30658420 2019
46
Oromandibular Dystonia Causing Recurrent Mandibular Open Lock in Two Adolescents Managed with Botulinum Toxin. 61
30992101 2019
47
Oromandibular dystonia screening questionnaire for differential diagnosis. 61
29717363 2019
48
Interdisciplinary recognizing and managing of drug-induced tardive oromandibular dystonia: two case reports. 61
30455910 2018
49
Multidisciplinary management of a partially edentulous patient with oromandibular dystonia: A clinical report. 61
29429838 2018
50
An update on new and unique uses of botulinum toxin in movement disorders. 61
28888928 2018

Variations for Oromandibular Dystonia

ClinVar genetic disease variations for Oromandibular Dystonia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-CO3 NC_012920.1:m.9355A>T SNV Uncertain significance 523307 rs1556423663 GRCh37: MT:9355-9355
GRCh38: 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

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

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.13 VPS13A C19orf12 ATP13A2
2 aerobic respiration GO:0009060 8.62 PANK2 MT-CO3

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.17 TUBB4A TOR1A PANK2 GNAL GCH1 ATP1A3

Sources for Oromandibular 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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