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Oromandibular dystonia

MedGen UID:
473560
Concept ID:
C2242577
Sign or Symptom
Synonyms: Cranial dystonia; oromandibular dystonia
 
HPO: HP:0012048
Monarch Initiative: MONDO:0019771
Orphanet: ORPHA93958

Definition

A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOromandibular dystonia

Conditions with this feature

Torsion dystonia 6
MedGen UID:
236274
Concept ID:
C1414216
Disease or Syndrome
Torsion dystonia-6 (DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene.
Torsion dystonia 13
MedGen UID:
335918
Concept ID:
C1843264
Disease or Syndrome
DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner.
Early-onset generalized limb-onset dystonia
MedGen UID:
338823
Concept ID:
C1851945
Disease or Syndrome
DYT1 early-onset isolated dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing or irregular tremor of a leg or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign.
Torsion dystonia 7
MedGen UID:
355560
Concept ID:
C1865818
Disease or Syndrome
Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by Leube et al., 1996).
Neurodegeneration with brain iron accumulation 4
MedGen UID:
482001
Concept ID:
C3280371
Disease or Syndrome
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism.
Dystonia 24
MedGen UID:
767288
Concept ID:
C3554374
Disease or Syndrome
Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by Charlesworth et al., 2012).
Dystonia 27
MedGen UID:
907580
Concept ID:
C4225336
Disease or Syndrome
Dystonia-27 (DYT27) is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015).
Dystonia 28, childhood-onset
MedGen UID:
934600
Concept ID:
C4310633
Disease or Syndrome
KMT2B-related dystonia (DYT-KMT2B) is a complex childhood-onset (mean age 7 years) movement disorder described to date in 39 individuals. It is characterized by a progressive disease course evolving commonly from lower-limb focal dystonia into generalized dystonia with prominent cervical, cranial, and laryngeal involvement. Communication difficulties, secondary to articulation difficulties and low speech volume, are common. Bulbar dysfunction leads to impaired swallowing. Intellectual disability (ID) / developmental delay (DD) are commonly reported. Additional findings can include eye movement abnormalities, skin changes, psychiatric comorbidities (attention-deficit/hyperactivity disorder, anxiety, depression, and obsessive-compulsive disorder), myoclonus, seizures, spasticity, and sensorineural hearing loss. Many affected individuals follow a similar disease course, though milder and atypical findings have been described.
Hypermanganesemia with dystonia 2
MedGen UID:
934732
Concept ID:
C4310765
Disease or Syndrome
SLC39A14 deficiency is characterized by evidence between ages six months and three years of delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance). Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. By the end of the first decade they develop severe, generalized, pharmaco-resistant dystonia, limb contractures, and scoliosis, and lose independent ambulation. Cognitive impairment appears to be less prominent than motor disability. Some affected children have succumbed in their first decade due to secondary complications such as respiratory infections.
Neurodegeneration with brain iron accumulation 6
MedGen UID:
1387791
Concept ID:
C4517377
Disease or Syndrome
Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by Dusi et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).
Dystonia 30
MedGen UID:
1785079
Concept ID:
C5543312
Disease or Syndrome
Dystonia-30 (DYT30) is an autosomal dominant neurologic disorder characterized by the onset of symptoms in the first decades of life. Patients present with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation. A subset of patients may also have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations (summary by Steel et al., 2020). In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT30 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS16.
Classic dopamine transporter deficiency syndrome
MedGen UID:
1814585
Concept ID:
C5700336
Disease or Syndrome
SLC6A3-related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (in the first 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood). Classic DTDS. Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). Over time, affected individuals develop parkinsonism-dystonia characterized by bradykinesia (progressing to akinesia), dystonic posturing, distal tremor, rigidity, and reduced facial expression. Limitation of voluntary movements leads to severe motor delay. Episodic status dystonicus, exacerbations of dystonia, and secondary orthopedic, gastrointestinal, and respiratory complications are common. Many affected individuals appear to show relative preservation of intellect with good cognitive development. Atypical DTDS. Normal psychomotor development in infancy and early childhood is followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term outcome of this form is currently unknown.
Dystonia 22, juvenile-onset
MedGen UID:
1841281
Concept ID:
C5830645
Disease or Syndrome
Juvenile-onset dystonia-22 (DYT22JO) is an autosomal recessive disorder characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging (Mencacci et al., 2021).

Professional guidelines

PubMed

Koptielow J, Szyłak E, Szewczyk-Roszczenko O, Roszczenko P, Kochanowicz J, Kułakowska A, Chorąży M
Int J Mol Sci 2024 Mar 22;25(7) doi: 10.3390/ijms25073571. PMID: 38612382Free PMC Article
Hassell TJW, Charles D
Toxins (Basel) 2020 Apr 22;12(4) doi: 10.3390/toxins12040269. PMID: 32331272Free PMC Article
Jinnah HA, Factor SA
Neurol Clin 2015 Feb;33(1):77-100. doi: 10.1016/j.ncl.2014.09.002. PMID: 25432724Free PMC Article

Recent clinical studies

Etiology

Handa S, Shaefer JR, Keith DA
J Am Dent Assoc 2022 Sep;153(9):899-906. Epub 2021 Dec 2 doi: 10.1016/j.adaj.2021.07.026. PMID: 34863506
Yoshida K
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Yoshida K
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Neurol Clin 2020 May;38(2):325-348. Epub 2020 Mar 2 doi: 10.1016/j.ncl.2020.01.003. PMID: 32279713Free PMC Article
Jinnah HA, Factor SA
Neurol Clin 2015 Feb;33(1):77-100. doi: 10.1016/j.ncl.2014.09.002. PMID: 25432724Free PMC Article

Diagnosis

Koptielow J, Szyłak E, Szewczyk-Roszczenko O, Roszczenko P, Kochanowicz J, Kułakowska A, Chorąży M
Int J Mol Sci 2024 Mar 22;25(7) doi: 10.3390/ijms25073571. PMID: 38612382Free PMC Article
Handa S, Shaefer JR, Keith DA
J Am Dent Assoc 2022 Sep;153(9):899-906. Epub 2021 Dec 2 doi: 10.1016/j.adaj.2021.07.026. PMID: 34863506
Britton D, Alty JE, Mannion CJ
Br J Oral Maxillofac Surg 2020 Jun;58(5):520-524. Epub 2020 Mar 3 doi: 10.1016/j.bjoms.2020.02.018. PMID: 32143935
Karp BI, Alter K
Semin Neurol 2016 Feb;36(1):84-91. Epub 2016 Feb 11 doi: 10.1055/s-0036-1571952. PMID: 26866500
Jinnah HA, Factor SA
Neurol Clin 2015 Feb;33(1):77-100. doi: 10.1016/j.ncl.2014.09.002. PMID: 25432724Free PMC Article

Therapy

Yoshida K
Toxins (Basel) 2022 Apr 14;14(4) doi: 10.3390/toxins14040282. PMID: 35448891Free PMC Article
Yoshida K
Toxins (Basel) 2021 Aug 29;13(9) doi: 10.3390/toxins13090605. PMID: 34564609Free PMC Article
Hassell TJW, Charles D
Toxins (Basel) 2020 Apr 22;12(4) doi: 10.3390/toxins12040269. PMID: 32331272Free PMC Article
Wagle Shukla A, Malaty IA
Semin Neurol 2017 Apr;37(2):193-204. Epub 2017 May 16 doi: 10.1055/s-0037-1602246. PMID: 28511260
Karp BI, Alter K
Semin Neurol 2016 Feb;36(1):84-91. Epub 2016 Feb 11 doi: 10.1055/s-0036-1571952. PMID: 26866500

Prognosis

Ledda C, Artusi CA, Tribolo A, Rinaldi D, Imbalzano G, Lopiano L, Zibetti M
J Neurol 2022 Jul;269(7):3706-3712. Epub 2022 Feb 3 doi: 10.1007/s00415-022-10995-2. PMID: 35113259Free PMC Article
Teng X, Qu Q, Shu Y, Gong J, Xu B, Qu J
Neurol Sci 2022 Jun;43(6):3683-3694. Epub 2022 Jan 19 doi: 10.1007/s10072-022-05900-8. PMID: 35044558
Yoshida K
Clin Oral Investig 2021 Oct;25(10):5755-5764. Epub 2021 May 6 doi: 10.1007/s00784-021-03878-9. PMID: 33956216
Chang X, Zhang J, Jiang Y, Wang J, Wu Y
CNS Neurosci Ther 2020 Jul;26(7):754-761. Epub 2020 Feb 11 doi: 10.1111/cns.13294. PMID: 32043823Free PMC Article
Lyons MK, Birch BD, Hillman RA, Boucher OK, Evidente VG
Neurosurg Focus 2010 Aug;29(2):E5. doi: 10.3171/2010.4.FOCUS1067. PMID: 20672922

Clinical prediction guides

Teng X, Qu Q, Shu Y, Gong J, Xu B, Qu J
Neurol Sci 2022 Jun;43(6):3683-3694. Epub 2022 Jan 19 doi: 10.1007/s10072-022-05900-8. PMID: 35044558
Manzo N, Ginatempo F, Belvisi D, Defazio G, Conte A, Deriu F, Berardelli A
Clin Neurophysiol 2022 Feb;134:73-80. Epub 2021 Dec 21 doi: 10.1016/j.clinph.2021.11.075. PMID: 34979293
Yoshida K
Clin Oral Investig 2019 Jan;23(1):405-411. Epub 2018 May 2 doi: 10.1007/s00784-018-2449-3. PMID: 29717363
Comella CL
Toxicon 2018 Jun 1;147:96-99. Epub 2018 Feb 14 doi: 10.1016/j.toxicon.2018.02.006. PMID: 29453996
Truong D
J Neurol Sci 2012 May 15;316(1-2):9-14. Epub 2012 Feb 14 doi: 10.1016/j.jns.2012.01.019. PMID: 22336699

Recent systematic reviews

De Meyer M, Vereecke L, Bottenberg P, Jacquet W, Sims AB, Santens P
Acta Neurol Belg 2020 Aug;120(4):831-836. Epub 2020 Jun 27 doi: 10.1007/s13760-020-01404-4. PMID: 32594465
Dadgardoust PD, Rosales RL, Asuncion RM, Dressler D
J Neural Transm (Vienna) 2019 Feb;126(2):141-148. Epub 2019 Jan 2 doi: 10.1007/s00702-018-1960-7. PMID: 30604200
Comella CL
Toxicon 2018 Jun 1;147:96-99. Epub 2018 Feb 14 doi: 10.1016/j.toxicon.2018.02.006. PMID: 29453996

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