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Orofacial dyskinesia

MedGen UID:
57747
Concept ID:
C0152115
Disease or Syndrome
Synonyms: Dyskinesia, Lingual-Facial-Buccal; Dyskinesia, Linguofacial; Dyskinesia, Oral-Facial; Dyskinesia, Orofacial; Dyskinesias, Lingual-Facial-Buccal; Dyskinesias, Linguofacial; Dyskinesias, Oral-Facial; Dyskinesias, Orofacial; Lingual Facial Buccal Dyskinesia; Lingual-Facial-Buccal Dyskinesia; Lingual-Facial-Buccal Dyskinesias; Linguofacial Dyskinesia; Linguofacial Dyskinesias; Oral Facial Dyskinesia; Oral-Facial Dyskinesia; Oral-Facial Dyskinesias; Orofacial Dyskinesia; Orofacial Dyskinesias; Tardive Oral Dyskinesia; Tardive Oral Dyskinesias
SNOMED CT: Orofacial dyskinesia (49386006)
 
HPO: HP:0002310
Monarch Initiative: MONDO:0004901

Definition

Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOrofacial dyskinesia

Conditions with this feature

Pigmentary pallidal degeneration
MedGen UID:
6708
Concept ID:
C0018523
Disease or Syndrome
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.
Chorea-acanthocytosis
MedGen UID:
98277
Concept ID:
C0393576
Disease or Syndrome
Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.
Spinocerebellar ataxia 7
MedGen UID:
156006
Concept ID:
C0752125
Disease or Syndrome
Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control.
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
MedGen UID:
318833
Concept ID:
C1833296
Disease or Syndrome
CHMP2B frontotemporal dementia (CHMP2B-FTD) has been described in a single family from Denmark, in one individual with familial FTD from Belgium, and in one individual with FTD and no family history. It typically starts between ages 46 and 65 years with subtle personality changes and slowly progressive behavioral changes, dysexecutive syndrome, dyscalculia, and language disturbances. Disinhibition or loss of initiative is the most common presenting symptom. The disease progresses over a few years into profound dementia with extrapyramidal symptoms and mutism. Several individuals have developed an asymmetric akinetic rigid syndrome with arm and gait dystonia and pyramidal signs that may be related to treatment with neuroleptic drugs. Symptoms and disease course are highly variable. Disease duration may be as short as three years or longer than 20 years.
Spinocerebellar ataxia type 27
MedGen UID:
373075
Concept ID:
C1836383
Disease or Syndrome
Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare.
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
MedGen UID:
337612
Concept ID:
C1846582
Disease or Syndrome
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.
SLC35A1-congenital disorder of glycosylation
MedGen UID:
370234
Concept ID:
C1970344
Disease or Syndrome
An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
Hereditary spastic paraplegia 46
MedGen UID:
473687
Concept ID:
C2828721
Disease or Syndrome
Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Proximal myopathy with extrapyramidal signs
MedGen UID:
816615
Concept ID:
C3810285
Disease or Syndrome
Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). Brain MRI in 1 patient showed congenital malformations, including polymicrogyria and cerebellar dysplasia (Wilton et al., 2020).
Developmental and epileptic encephalopathy, 29
MedGen UID:
908570
Concept ID:
C4225361
Disease or Syndrome
Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by Simons et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Neurodevelopmental disorder with involuntary movements
MedGen UID:
1374697
Concept ID:
C4479569
Disease or Syndrome
NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).
Episodic kinesigenic dyskinesia 1
MedGen UID:
1636366
Concept ID:
C4552000
Disease or Syndrome
PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
MedGen UID:
1676579
Concept ID:
C5193104
Disease or Syndrome
Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is an autosomal recessive disorder characterized by severe psychomotor developmental abnormalities, abnormal movements, and functional iron deficiency (Costain et al., 2019).
Basal ganglia calcification, idiopathic, 8, autosomal recessive
MedGen UID:
1713414
Concept ID:
C5394199
Disease or Syndrome
Autosomal recessive idiopathic basal ganglia calcification-8 (IBGC8) is a progressive neurologic disorder with insidious onset of motor symptoms in adulthood. Affected individuals develop gait difficulties, parkinsonism, pyramidal signs, and dysarthria. Some may demonstrate cognitive decline or memory impairment. Brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum. Because serum calcium and phosphate are normal, the disorder is thought to result from defects in the integrity of the neurovascular unit in the brain (summary by Schottlaender et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
MedGen UID:
1794215
Concept ID:
C5562005
Disease or Syndrome
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is an autosomal recessive primarily neurologic disorder with variable manifestations. Common features included infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Other features include dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and nonspecific dysmorphic features. Most, but not all, patients have global developmental delay with impaired intellectual development and speech delay. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence, often requiring pacemaker placement (summary by Slavotinek et al., 2020).
Infantile-onset generalized dyskinesia with orofacial involvement
MedGen UID:
1798887
Concept ID:
C5567464
Disease or Syndrome
Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016).
Developmental and epileptic encephalopathy 110
MedGen UID:
1824038
Concept ID:
C5774265
Disease or Syndrome
Developmental and epileptic encephalopathy-110 (DEE110) is an autosomal recessive disorder characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. Affected individuals achieve almost no developmental milestones and show impaired intellectual development, poor or absent speech, inability to walk or grasp objects, peripheral spasticity, and poor eye contact. Brain imaging shows hypoplastic corpus callosum and cortical atrophy (Dahimene et al., 2022). For a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

Kirschneck C, Proff P, Lux C
J Orofac Orthop 2022 Jul;83(4):225-232. Epub 2022 Jun 17 doi: 10.1007/s00056-022-00409-3. PMID: 35713671Free PMC Article
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Recent clinical studies

Etiology

Kirschneck C, Proff P, Lux C
J Orofac Orthop 2022 Jul;83(4):225-232. Epub 2022 Jun 17 doi: 10.1007/s00056-022-00409-3. PMID: 35713671Free PMC Article
Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, Rios L, Castiglioni C, Barassi C, Battaglia D, Gambardella ML, Cantonetti L, Graziola F, Marras CE, Castelli E, Bertini E, Capuano A, Leuzzi V
Parkinsonism Relat Disord 2019 Apr;61:19-25. Epub 2018 Nov 16 doi: 10.1016/j.parkreldis.2018.11.019. PMID: 30642806
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Diagnosis

Ghadery CM, Kalia LV, Connolly BS
J Neurol 2022 Nov;269(11):5812-5830. Epub 2022 Jul 29 doi: 10.1007/s00415-022-11299-1. PMID: 35904592
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Therapy

Wang MH, Yang CC, Tseng HC, Fang CH, Lin YW, Soung HS
Neurotox Res 2021 Jun;39(3):774-786. Epub 2021 Feb 1 doi: 10.1007/s12640-021-00333-1. PMID: 33523404
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Prognosis

Herrera-Mora P, Munive-Baez L, Ruiz García M, Galindo-Martínez A, Maldonado-Diaz DE, Delgado RD, Cárdenas G
Clin Neurol Neurosurg 2021 Nov;210:106986. Epub 2021 Oct 11 doi: 10.1016/j.clineuro.2021.106986. PMID: 34688092
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Clinical prediction guides

Zhang Y, Cui L, Chen W, Huang H, Liu G, Su Y, Boltze J
J Neurol 2023 May;270(5):2693-2701. Epub 2023 Feb 22 doi: 10.1007/s00415-023-11599-0. PMID: 36810828
Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, Rios L, Castiglioni C, Barassi C, Battaglia D, Gambardella ML, Cantonetti L, Graziola F, Marras CE, Castelli E, Bertini E, Capuano A, Leuzzi V
Parkinsonism Relat Disord 2019 Apr;61:19-25. Epub 2018 Nov 16 doi: 10.1016/j.parkreldis.2018.11.019. PMID: 30642806
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