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<!--
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||
UID=57747
|
||
ConceptID=C0152115
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Orofacial dyskinesia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57747</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>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</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Orofacial dyskinesia (49386006)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002310">HP:0002310</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0004901" target="_blank">MONDO:0004901</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">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 <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0152115[DISCUI]&test_type=Clinical" ref="ncbi_uid=57747">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=57747" ref="ncbi_uid=57747">V</a></span></span><span class="TLline">Orofacial dyskinesia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/10113" ref="tree=MeSH" title="MedGen record for Movement disorder">Movement disorder</a></span><ul><li><span class="TLline"><a href="/medgen/8514" ref="tree=MeSH" title="MedGen record for Dyskinesia">Dyskinesia</a></span><ul><li><span class="matched_ds">Orofacial dyskinesia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_6708"><div><strong>Pigmentary pallidal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6708</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018523</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6708">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98277"><div><strong>Chorea-acanthocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98277</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0393576</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VPS13A disease, caused by VPS13A loss-of-function pathogenic variants, is characterized by a spectrum of movement disorders (chorea, dystonia, tics, sometimes parkinsonism); predominant orofacial choreic and dystonic movements and tics (with involuntary tongue protrusion on attempted swallowing, habitual tongue and lip biting resulting in self-mutilation, involuntary vocalizations); dysarthria and dysphagia; psychiatric, cognitive, and behavioral changes ("frontal lobe type"); seizures; and progressive neuromuscular involvement. Huntingtonism (triad of progressive movement disorder and cognitive and behavioral alterations) is a typical presentation. Phenotypic variability is considerable even within the same family, including for monozygotic twins. Mean age of onset is about 30 years. VPS13A disease runs a chronic progressive course and may lead to major disability within a few years. Some affected individuals are bedridden or wheelchair dependent by the third decade. Age at death ranges from 28 to 61 years; several instances of sudden unexplained death or death during epileptic seizures have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98277">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_156006"><div><strong>Spinocerebellar ataxia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>156006</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0752125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/156006">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318833"><div><strong>Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318833</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1833296</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318833">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373075"><div><strong>Spinocerebellar ataxia type 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373075</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373075">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370234"><div><strong>SLC35A1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370234">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_473687"><div><strong>Hereditary spastic paraplegia 46</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473687</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2828721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473687">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816615"><div><strong>Proximal myopathy with extrapyramidal signs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816615</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3810285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816615">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908570"><div><strong>Developmental and epileptic encephalopathy, 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908570</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908570">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1374697"><div><strong>Neurodevelopmental disorder with involuntary movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1374697</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4479569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNAO1-related disorder encompasses a broad phenotypic continuum that includes hyperkinetic movement disorders and/or epilepsy and is typically associated with developmental delay and intellectual disability. Viewed by age of onset, three clusters in this continuum can be observed: (1) infantile-onset developmental and epileptic encephalopathy (DEE) with or without prominent movement disorder; (2) infantile- or early childhood-onset prominent movement disorder and neurodevelopmental disorder with or without childhood-onset epilepsy with varying seizure types; (3) later childhood- or adult-onset movement disorder with variable developmental delay and intellectual disability. Epilepsy can be either DEE (onset typically within the first year of life of drug-resistant epilepsy in which developmental delays are attributed to the underlying diagnosis as well as the impact of uncontrolled seizures) or varying seizure types (onset typically between ages three and ten years of focal or generalized tonic-clonic seizures that may be infrequent or well controlled with anti-seizure medications). Movement disorders are characterized by dystonia and choreoathetosis, most commonly a mixed pattern of persistent or paroxysmal dyskinesia that affects the whole body. Exacerbations of the hyperkinetic movement disorder, which can be spontaneous or triggered (e.g., by intercurrent illness, emotional stress, voluntary movements), can last minutes to weeks. Hyperkinetic crises (including status dystonicus) are characterized by temporarily increased and nearly continuous involuntary movements or dystonic posturing that can be life-threatening. Deaths in early childhood have been reported due to medically refractory epilepsy or hyperkinetic crises, but the phenotypic spectrum includes milder presentations, including in adults. As many adults with disabilities have not undergone advanced genetic testing, it is likely that adults with GNAO1-related disorder are underrecognized and underreported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1374697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1636366"><div><strong>Episodic kinesigenic dyskinesia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4552000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PRRT2-related disorder, caused by heterozygous pathogenic variants in the gene PRRT2 (associated with aberrant synaptic transmission), is characterized by three core episodic neurologic phenotypes: epilepsy, movement disorder, and migraine. Age at onset and phenotypes range from neonatal/infantile (self-limited [familial] infantile epilepsy), to childhood (childhood absence epilepsy), to adolescence to adulthood (paroxysmal kinesigenic dyskinesia [PKD] or migraine). As individuals with PRRT2-related disorder age, they may exhibit one of more of these core phenotypes in various combinations, either concurrently or sequentially. Additionally, family members with the same pathogenic PRRT2 variant may display different core phenotypes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1636366">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1676579"><div><strong>Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1676579</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193104</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1676579">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1713414"><div><strong>Basal ganglia calcification, idiopathic, 8, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713414</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5394199</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1713414">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794215"><div><strong>Cerebellar ataxia, brain abnormalities, and cardiac conduction defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794215</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5562005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794215">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798887"><div><strong>Infantile-onset generalized dyskinesia with orofacial involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798887</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5567464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798887">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824038"><div><strong>Developmental and epileptic encephalopathy 110</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824038</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824038">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1863149"><div><strong>Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863149</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935585</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities (NEDMSB) is a severe autosomal recessive disorder characterized by failure to thrive in infancy, global developmental delay, hypotonia, motor abnormalities with inability to walk, involuntary movements, impaired intellectual development, absent speech, seizures, and structural brain abnormalities (Alkhater et al., 2018; Dafsari et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863149">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1713414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basal ganglia calcification, idiopathic, 8, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia, brain abnormalities, and cardiac conduction defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea-acanthocytosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824038" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 110</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 29</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1636366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic kinesigenic dyskinesia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia and/or amyotrophic lateral sclerosis 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_473687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 46</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile-onset generalized dyskinesia with orofacial involvement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1676579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1863149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1374697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with involuntary movements</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary pallidal degeneration</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal myopathy with extrapyramidal signs</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">SLC35A1-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_156006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 27</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/35713671">Ideal treatment timing of orthodontic anomalies-a German clinical S3 practice guideline.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kirschneck C,
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Proff P,
|
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Lux C</span><br />
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<span class="medgenPMjournal">J Orofac Orthop</span>
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2022 Jul;83(4):225-232.
|
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Epub 2022 Jun 17
|
||
doi: 10.1007/s00056-022-00409-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35713671" target="_blank">35713671</a><a href="/pmc/articles/PMC9226101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8888127">Antioxidant treatment of tardive dyskinesia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Rotrosen J,
|
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Adler L,
|
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Lohr J,
|
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Edson R,
|
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Lavori P</span><br />
|
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<span class="medgenPMjournal">Prostaglandins Leukot Essent Fatty Acids</span>
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1996 Aug;55(1-2):77-81.
|
||
doi: 10.1016/s0952-3278(96)90149-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8888127" target="_blank">8888127</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2906088">Topographic subtypes of tardive dyskinesia in schizophrenic patients aged less than 60 years: relationship to demographic, clinical, treatment, and neuropsychological variables.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gureje O</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1988 Dec;51(12):1525-30.
|
||
doi: 10.1136/jnnp.51.12.1525.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2906088" target="_blank">2906088</a><a href="/pmc/articles/PMC1032768" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22orofacial%20dyskinesia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35713671">Ideal treatment timing of orthodontic anomalies-a German clinical S3 practice guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirschneck C,
|
||
Proff P,
|
||
Lux C</span><br />
|
||
<span class="medgenPMjournal">J Orofac Orthop</span>
|
||
2022 Jul;83(4):225-232.
|
||
Epub 2022 Jun 17
|
||
doi: 10.1007/s00056-022-00409-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35713671" target="_blank">35713671</a><a href="/pmc/articles/PMC9226101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30642806">Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">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</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Apr;61:19-25.
|
||
Epub 2018 Nov 16
|
||
doi: 10.1016/j.parkreldis.2018.11.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30642806" target="_blank">30642806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29758293">TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavallin M,
|
||
Maillard C,
|
||
Hully M,
|
||
Philbert M,
|
||
Boddaert N,
|
||
Reilly ML,
|
||
Nitschké P,
|
||
Bery A,
|
||
Bahi-Buisson N</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2018 Dec;61(12):729-732.
|
||
Epub 2018 May 25
|
||
doi: 10.1016/j.ejmg.2018.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29758293" target="_blank">29758293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28183575">Choreoathetotic syndrome following cardiac surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bisciglia M,
|
||
London F,
|
||
Hulin J,
|
||
Peeters A,
|
||
Ivanoiu A,
|
||
Jeanjean A</span><br />
|
||
<span class="medgenPMjournal">J Clin Anesth</span>
|
||
2017 Feb;36:59-61.
|
||
Epub 2016 Nov 18
|
||
doi: 10.1016/j.jclinane.2016.08.043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28183575" target="_blank">28183575</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9601227">Treating orofacial dyskinesia with functional physiotherapy in the case of frontal open bite.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daglio SD,
|
||
Schwitzer R,
|
||
Wüthrich J,
|
||
Kallivroussis G</span><br />
|
||
<span class="medgenPMjournal">Int J Orofacial Myology</span>
|
||
1993 Nov;19:11-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9601227" target="_blank">9601227</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20dyskinesia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (41)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35676037">Orofacial Dyskinesia and Intractable Hiccups in a Patient with Varicella-zoster Virus Encephalomyelitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Funatsu A,
|
||
Yamamoto Y,
|
||
Araki M,
|
||
Aga F,
|
||
Mine H</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2023 Jan 1;62(1):119-122.
|
||
Epub 2022 Jun 7
|
||
doi: 10.2169/internalmedicine.9334-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35676037" target="_blank">35676037</a><a href="/pmc/articles/PMC9876721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35904592">Movement disorders of the mouth: a review of the common phenomenologies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghadery CM,
|
||
Kalia LV,
|
||
Connolly BS</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2022 Nov;269(11):5812-5830.
|
||
Epub 2022 Jul 29
|
||
doi: 10.1007/s00415-022-11299-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35904592" target="_blank">35904592</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27475514">Orofacial Movement Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clark GT,
|
||
Ram S</span><br />
|
||
<span class="medgenPMjournal">Oral Maxillofac Surg Clin North Am</span>
|
||
2016 Aug;28(3):397-407.
|
||
doi: 10.1016/j.coms.2016.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27475514" target="_blank">27475514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24203856">Autoantibody-associated movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammad SS,
|
||
Ramanathan S,
|
||
Brilot F,
|
||
Dale RC</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2013 Dec;44(6):336-45.
|
||
Epub 2013 Nov 7
|
||
doi: 10.1055/s-0033-1358603.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24203856" target="_blank">24203856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15949657">Manual for the Extrapyramidal Symptom Rating Scale (ESRS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chouinard G,
|
||
Margolese HC</span><br />
|
||
<span class="medgenPMjournal">Schizophr Res</span>
|
||
2005 Jul 15;76(2-3):247-65.
|
||
Epub 2005 Apr 18
|
||
doi: 10.1016/j.schres.2005.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15949657" target="_blank">15949657</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20dyskinesia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (73)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28183575">Choreoathetotic syndrome following cardiac surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bisciglia M,
|
||
London F,
|
||
Hulin J,
|
||
Peeters A,
|
||
Ivanoiu A,
|
||
Jeanjean A</span><br />
|
||
<span class="medgenPMjournal">J Clin Anesth</span>
|
||
2017 Feb;36:59-61.
|
||
Epub 2016 Nov 18
|
||
doi: 10.1016/j.jclinane.2016.08.043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28183575" target="_blank">28183575</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27475514">Orofacial Movement Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clark GT,
|
||
Ram S</span><br />
|
||
<span class="medgenPMjournal">Oral Maxillofac Surg Clin North Am</span>
|
||
2016 Aug;28(3):397-407.
|
||
doi: 10.1016/j.coms.2016.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27475514" target="_blank">27475514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15300665">Adrafinil-induced orofacial dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thobois S,
|
||
Xie J,
|
||
Mollion H,
|
||
Benatru I,
|
||
Broussolle E</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2004 Aug;19(8):965-6.
|
||
doi: 10.1002/mds.20154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15300665" target="_blank">15300665</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7212665">Lisuride in parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parkes JD,
|
||
Schachter M,
|
||
Marsden CD,
|
||
Smith B,
|
||
Wilson A</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1981 Jan;9(1):48-52.
|
||
doi: 10.1002/ana.410090109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7212665" target="_blank">7212665</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4931312">Orofacial dyskinesia. A dental dimension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sutcher HD,
|
||
Underwood RB,
|
||
Beatty RA,
|
||
Sugar O</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1971 May 31;216(9):1459-63.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4931312" target="_blank">4931312</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20dyskinesia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (74)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37548868">Anti-N-methyl-D-aspartate receptor encephalitis in adults: a systematic review and analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giri YR,
|
||
Parrill A,
|
||
Damodar S,
|
||
Fogel J,
|
||
Ayed N,
|
||
Syed M,
|
||
Korie I,
|
||
Ayyanar S,
|
||
Typhair C,
|
||
Hashmi S,
|
||
Giri BB</span><br />
|
||
<span class="medgenPMjournal">Neuropsychiatr</span>
|
||
2024 Jun;38(2):92-101.
|
||
Epub 2023 Aug 7
|
||
doi: 10.1007/s40211-023-00478-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37548868" target="_blank">37548868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32151030">Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glaß H,
|
||
Neumann P,
|
||
Pal A,
|
||
Reinhardt P,
|
||
Storch A,
|
||
Sterneckert J,
|
||
Hermann A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 Mar 5;21(5)
|
||
doi: 10.3390/ijms21051797.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32151030" target="_blank">32151030</a><a href="/pmc/articles/PMC7084777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30642806">Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">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</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Apr;61:19-25.
|
||
Epub 2018 Nov 16
|
||
doi: 10.1016/j.parkreldis.2018.11.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30642806" target="_blank">30642806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2292700">Cyclosporin-associated akinetic mutism and extrapyramidal syndrome after liver transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bird GL,
|
||
Meadows J,
|
||
Goka J,
|
||
Polson R,
|
||
Williams R</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1990 Dec;53(12):1068-71.
|
||
doi: 10.1136/jnnp.53.12.1068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2292700" target="_blank">2292700</a><a href="/pmc/articles/PMC488317" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2877703">Orofacial dyskinesia, cognitive function and medication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas P,
|
||
McGuire R</span><br />
|
||
<span class="medgenPMjournal">Br J Psychiatry</span>
|
||
1986 Aug;149:216-20.
|
||
doi: 10.1192/bjp.149.2.216.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2877703" target="_blank">2877703</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20dyskinesia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37548868">Anti-N-methyl-D-aspartate receptor encephalitis in adults: a systematic review and analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giri YR,
|
||
Parrill A,
|
||
Damodar S,
|
||
Fogel J,
|
||
Ayed N,
|
||
Syed M,
|
||
Korie I,
|
||
Ayyanar S,
|
||
Typhair C,
|
||
Hashmi S,
|
||
Giri BB</span><br />
|
||
<span class="medgenPMjournal">Neuropsychiatr</span>
|
||
2024 Jun;38(2):92-101.
|
||
Epub 2023 Aug 7
|
||
doi: 10.1007/s40211-023-00478-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37548868" target="_blank">37548868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36810828">Status dystonicus in adult patients with anti-N-methyl-D-aspartate-acid receptor encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Cui L,
|
||
Chen W,
|
||
Huang H,
|
||
Liu G,
|
||
Su Y,
|
||
Boltze J</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 May;270(5):2693-2701.
|
||
Epub 2023 Feb 22
|
||
doi: 10.1007/s00415-023-11599-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36810828" target="_blank">36810828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32151030">Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glaß H,
|
||
Neumann P,
|
||
Pal A,
|
||
Reinhardt P,
|
||
Storch A,
|
||
Sterneckert J,
|
||
Hermann A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 Mar 5;21(5)
|
||
doi: 10.3390/ijms21051797.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32151030" target="_blank">32151030</a><a href="/pmc/articles/PMC7084777" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30642806">Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">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</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2019 Apr;61:19-25.
|
||
Epub 2018 Nov 16
|
||
doi: 10.1016/j.parkreldis.2018.11.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30642806" target="_blank">30642806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2877703">Orofacial dyskinesia, cognitive function and medication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas P,
|
||
McGuire R</span><br />
|
||
<span class="medgenPMjournal">Br J Psychiatry</span>
|
||
1986 Aug;149:216-20.
|
||
doi: 10.1192/bjp.149.2.216.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2877703" target="_blank">2877703</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20dyskinesia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (30)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37548868">Anti-N-methyl-D-aspartate receptor encephalitis in adults: a systematic review and analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giri YR,
|
||
Parrill A,
|
||
Damodar S,
|
||
Fogel J,
|
||
Ayed N,
|
||
Syed M,
|
||
Korie I,
|
||
Ayyanar S,
|
||
Typhair C,
|
||
Hashmi S,
|
||
Giri BB</span><br />
|
||
<span class="medgenPMjournal">Neuropsychiatr</span>
|
||
2024 Jun;38(2):92-101.
|
||
Epub 2023 Aug 7
|
||
doi: 10.1007/s40211-023-00478-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37548868" target="_blank">37548868</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20dyskinesia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
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|
||
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|
||
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|
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|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0152115%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0152115%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0152115%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Orofacial%20dyskinesia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22orofacial%20dyskinesia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Orofacial%20dyskinesia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Orofacial%20dyskinesia" target="_blank">MedlinePlus</a></li></ul></div>
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<li>
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<a href="/pubmed/clinical?term=Orofacial%20dyskinesia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Orofacial%20dyskinesia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=57747" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0152115[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0152115[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=57747" ref="log$=recordlinks">MeSH</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d349b567c23b31e0bd3291">Orofacial dyskinesia</a>
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<div class="ralinkpop offscreen_noflow">Orofacial dyskinesia<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d349b384f3725e594480bb">Impulse control disorder</a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d349accde49f3df7d7ec85">CHMP2B Frontotemporal Dementia - GeneReviews®</a>
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<div class="tertiary"></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d349ab2f30673f7bfa527b">Table B. [OMIM Entries for CHMP2B Frontotemporal Dementia (View All in OMIM)]. -...</a>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for CHMP2B Frontotemporal Dementia (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary"></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d3498f2f30673f7bf9c4bb">RecName: Full=Charged multivesicular body protein 2b; AltName: Full=CHMP2.5; Alt...</a>
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<div class="ralinkpop offscreen_noflow">RecName: Full=Charged multivesicular body protein 2b; AltName: Full=CHMP2.5; AltName: Full=Chromatin-modifying protein 2b; Short=CHMP2b; AltName: Full=Vacuolar protein sorting-associated protein 2-2; Short=Vps2-2; Short=hVps2-2<div class="brieflinkpopdesc">gi|73917746|sp|Q9UQN3.1|CHM2B_HUMAN</div></div>
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<div class="tertiary">Protein</div>
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