Oromandibular dystonia

A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.



Input patient's signs and symptoms


Narrow down the case reports



Total: 83 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(42.7%)		 29723311
 Oromandibular Dystonia-Related Temporomandibular Joint Osteoarthritis: A Case History Report.
Matsuda S, Yoshimura H, Sano K.
Int J Prosthodont. 2018;31(3):206-207.
Trismus
Aged, 80 and over Dystonia Disorders Females Homo sapiens Temporomandibular Joint Disorders
1
(42.7%)		 22442587
(3304206)
 Oro-mandibular dystonia.
Gandhi YR.
Natl J Maxillofac Surg. 2010;1(2):150-2.
Trismus
1
(42.7%)		 16552755
 Coronoidotomy as treatment for trismus due to jaw-closing oromandibular dystonia.
Yoshida K.
Mov Disord. 2006;21(7):1028-31.
Trismus
Dystonia Disorders Electromyography Facial Muscles Females Follow-Up Studies Homo sapiens Mandible Middle Aged Nerve Block Osteotomy Trismus
4
(38.3%)		 15133826
 Dystonia as a presenting sign of spinocerebellar ataxia type 1.
Wu YR, Lee-Chen GJ, Lang AE, Chen CM, Lin HY, Chen ST.
Mov Disord. 2004;19(5):586-7.
Blepharospasm Retrocollis
ATXN1
Adult Ataxia, Spinocerebellar Blepharospasm Brain Differential Diagnosis Dystonia Homo sapiens Magnetic Resonance Imaging Male Saccades Trinucleotide Repeat Expansion Videotape Recording
4
(38.3%)		 11383945
 Meige syndrome secondary to basal ganglia injury: a potential cause of acute respiratory distress.
Kirton CA, Riopelle RJ.
Can J Neurol Sci. 2001;28(2):167-73.
Blepharospasm Muscle spasm
Airway Obstruction Basal Ganglia Diseases Brain Hypoxia Dyspnea Females Homo sapiens Meige Syndrome Middle Aged
4
(38.3%)		 3504553
 Localized injections of botulinum toxin for the treatment of focal dystonia and hemifacial spasm.
Brin MF, Fahn S, Moskowitz C, Friedman A, Shale HM, Greene PE, Blitzer A, List T, Lange D, Lovelace RE, et al..
Mov Disord. 1987;2(4):237-54.
Torticollis Blepharospasm
Adult Blepharospasm Botulinum Toxins Dose-Response Relationship, Drug Dystonia Electromyography Facial Muscles Females Follow-Up Studies Homo sapiens Male Middle Aged Spasm Subcutaneous Injections Torticollis
4
(38.3%)		 3193961
 Pathological report of four patients presenting with cranial dystonias.
Gibb WR, Lees AJ, Marsden CD.
Mov Disord. 1988;3(3):211-21.
Blepharospasm Retrocollis
Blepharospasm Brain Brain Neoplasms Brain Stem Dystonia Females Hemangioma Homo sapiens Male Mandible Middle Aged
8
(35.3%)		 12715033
 [Bilateral hemifacial spasm: case report].
Machado FC, Fregni F, Campos CR, Limongi JC.
Arq Neuropsiquiatr. 2003;61(1):115-8.
Facial myokymia
Botulinum Toxins Decompression, Surgical Hemifacial Spasm Homo sapiens Magnetic Resonance Angiography Male Neuromuscular Agents
9
(33.8%)		 27100856
 Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.
Dulski J, Schinwelski M, Mandat T, Pienczk-Rclawowicz K, Slawek J.
Stereotact Funct Neurosurg. 2016;94(2):123-5.
Retrocollis
GPI TIMM8A
Adult Child Deaf-Blind Disorders Deep Brain Stimulation Dystonia Follow-Up Studies Globus Pallidus Homo sapiens Intellectual Disability Male Optic Atrophy Time Factors Video Recording Young Adult
9
(33.8%)		 18829144
 Management of dystonia of the lateral pterygoid muscle with botulinum toxin A.
Mendes RA, Upton LG.
Br J Oral Maxillofac Surg. 2009;47(6):481-3.
Torticollis
Dystonia Females Homo sapiens Middle Aged Torticollis
        

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000277 Abnormality of the mandible Frequent (79-30%)
HP:0000716 Depressivity Frequent (79-30%)
HP:0001618 Dysphonia Frequent (79-30%)
HP:0001824 Weight loss Frequent (79-30%)
HP:0002015 Dysphagia Frequent (79-30%)
HP:0005216 Impaired mastication Frequent (79-30%)
HP:0010754 Abnormality of the temporomandibular joint Frequent (79-30%)
HP:0012531 Pain Frequent (79-30%)
HP:0000159 Abnormal lip morphology Occasional (29-5%)
HP:0000273 Facial grimacing Occasional (29-5%)
HP:0000366 Abnormality of the nose Occasional (29-5%)
HP:0000473 Torticollis Occasional (29-5%)
HP:0000643 Blepharospasm Occasional (29-5%)
HP:0002487 Hyperkinesis Occasional (29-5%)
HP:0003763 Bruxism Occasional (29-5%)
HP:0007325 Generalized dystonia Occasional (29-5%)
HP:0012049 Laryngeal dystonia Occasional (29-5%)
HP:0031008 Lingual dystonia Occasional (29-5%)
HP:0001260 Dysarthria Very rare (4-1%)
HP:0002098 Respiratory distress Very rare (4-1%)
HP:0002451 Limb dystonia Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 38

HPO ID Term # of case reports
HP:0000643 Blepharospasm 30
HP:0001332 Dystonia 16
HP:0002451 Limb dystonia 5
HP:0004373 Focal dystonia 3
HP:0001260 Dysarthria 2
HP:0001336 Myoclonus 2
HP:0001618 Dysphonia 2
HP:0002072 Chorea 2
HP:0002356 Writer's cramp 2
HP:0002544 Retrocollis 2
HP:0031008 Lingual dystonia 2
HP:0031943 Akathisia 2
HP:0000211 Trismus 1
HP:0000317 Facial myokymia 1
HP:0000473 Torticollis 1
HP:0000734 Disinhibition 1
HP:0001009 Telangiectasia 1
HP:0001250 Seizures 1
HP:0001251 Ataxia 1
HP:0001279 Syncope 1
HP:0001298 Encephalopathy 1
HP:0001300 Parkinsonism 1
HP:0001337 Tremor 1
HP:0001945 Fever 1
HP:0002013 Vomiting 1
HP:0002015 Dysphagia 1
HP:0002186 Apraxia 1
HP:0002310 Orofacial dyskinesia 1
HP:0002321 Vertigo 1
HP:0002401 Stroke-like episode 1
HP:0003128 Lactic acidosis 1
HP:0003763 Bruxism 1
HP:0006789 Mitochondrial encephalopathy 1
HP:0010535 Sleep apnea 1
HP:0010553 Oculogyric crisis 1
HP:0011468 Facial tics 1
HP:0100665 Angioedema 1
HP:0100703 Tongue thrusting 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID