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<!--
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UID=473560
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ConceptID=C2242577
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Oromandibular dystonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473560</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.">C2242577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cranial dystonia; oromandibular dystonia</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012048">HP:0012048</a></td></tr>
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<tr><td>Monarch Initiative:</td>
|
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<td><a href="https://monarchinitiative.org/disease/MONDO:0019771" target="_blank">MONDO:0019771</a></td></tr>
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<tr><td>Orphanet:</td>
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<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93958">ORPHA93958</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">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 <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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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=C2242577[DISCUI]&test_type=Clinical" ref="ncbi_uid=473560">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=473560" ref="ncbi_uid=473560">V</a></span></span><span class="TLline">Oromandibular dystonia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/3940" ref="tree=MeSH" title="MedGen record for Dystonic disorder">Dystonic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/149279" ref="tree=MeSH" title="MedGen record for Focal dystonia">Focal dystonia</a></span><ul><li><span class="TLline"><a href="/medgen/868612" ref="tree=MeSH" title="MedGen record for Craniofacial dystonia">Craniofacial dystonia</a></span><ul><li><span class="matched_ds">Oromandibular dystonia</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_236274"><div><strong>Torsion dystonia 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>236274</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.">C1414216</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/236274">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335918"><div><strong>Torsion dystonia 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335918</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.">C1843264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335918">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338823"><div><strong>Early-onset generalized limb-onset dystonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338823</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:">C1851945</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338823">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355560"><div><strong>Torsion dystonia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355560</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.">C1865818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355560">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482001"><div><strong>Neurodegeneration with brain iron accumulation 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482001</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.">C3280371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482001">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767288"><div><strong>Dystonia 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767288</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.">C3554374</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_907580"><div><strong>Dystonia 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907580</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.">C4225336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907580">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934600"><div><strong>Dystonia 28, childhood-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934600</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.">C4310633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934600">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934732"><div><strong>Hypermanganesemia with dystonia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934732</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.">C4310765</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLC39A14 deficiency is typically characterized by evidence of delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance) between ages six months and three years. 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 died in their first decade due to secondary complications such as respiratory infections. One individual with disease onset during the late teens has been reported, suggesting that milder adult presentation can occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934732">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1387791"><div><strong>Neurodegeneration with brain iron accumulation 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1387791</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.">C4517377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1387791">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1785079"><div><strong>Dystonia 30</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785079</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.">C5543312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785079">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1814585"><div><strong>Classic dopamine transporter deficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814585</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.">C5700336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLC6A3-related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (by age 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood). Classic early-onset 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 later-onset DTDS: Normal psychomotor development in infancy and early childhood. Attention-deficit/hyperactivity disorder (ADHD) is reported in childhood followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term prognosis of this form of DTDS is currently unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1814585">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841281"><div><strong>Dystonia 22, juvenile-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841281</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.">C5830645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841281">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847194"><div><strong>Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847194</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.">C5882686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (NEDLBF) is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. The phenotype and severity of the disorder is heterogeneous, ranging from borderline to severe. Brain imaging is usually normal. More variable additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet (Jia et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847194">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1814585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Classic dopamine transporter deficiency syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 22, juvenile-onset</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 24</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 27</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 28, childhood-onset</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 30</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338823" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset generalized limb-onset dystonia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermanganesemia with dystonia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1387791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_236274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 7</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>
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38612382">Genetic Update and Treatment for Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koptielow J,
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||
Szyłak E,
|
||
Szewczyk-Roszczenko O,
|
||
Roszczenko P,
|
||
Kochanowicz J,
|
||
Kułakowska A,
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||
Chorąży M</span><br />
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||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Mar 22;25(7)
|
||
doi: 10.3390/ijms25073571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38612382" target="_blank">38612382</a><a href="/pmc/articles/PMC11011602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32331272">Treatment of Blepharospasm and Oromandibular Dystonia with Botulinum Toxins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassell TJW,
|
||
Charles D</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2020 Apr 22;12(4)
|
||
doi: 10.3390/toxins12040269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32331272" target="_blank">32331272</a><a href="/pmc/articles/PMC7232182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28618440">Perspectives on the Psychosocial Management of Oromandibular Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Page AD,
|
||
Siegel L</span><br />
|
||
<span class="medgenPMjournal">Semin Speech Lang</span>
|
||
2017 Jul;38(3):173-183.
|
||
Epub 2017 Jun 15
|
||
doi: 10.1055/s-0037-1602836.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28618440" target="_blank">28618440</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22oromandibular%20dystonia%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 (34)</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
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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/35636057">Botulinum toxin injections in jaw-opening dystonia. The lateral pterygoid - maxillary artery problem.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ünal S,
|
||
Tugra Karaarslan-Turk F,
|
||
Akbostanci MC,
|
||
Peker E,
|
||
Yilmaz R</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2022 Jul;101:217-220.
|
||
Epub 2022 May 26
|
||
doi: 10.1016/j.jocn.2022.05.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35636057" target="_blank">35636057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34564609">Effects of Botulinum Toxin Type A on Pain among Trigeminal Neuralgia, Myofascial Temporomandibular Disorders, and Oromandibular Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida K</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2021 Aug 29;13(9)
|
||
doi: 10.3390/toxins13090605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34564609" target="_blank">34564609</a><a href="/pmc/articles/PMC8471742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279713">Medical and Surgical Treatments for Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 May;38(2):325-348.
|
||
Epub 2020 Mar 2
|
||
doi: 10.1016/j.ncl.2020.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279713" target="_blank">32279713</a><a href="/pmc/articles/PMC7156436" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25432724">Diagnosis and treatment of dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA,
|
||
Factor SA</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2015 Feb;33(1):77-100.
|
||
doi: 10.1016/j.ncl.2014.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25432724" target="_blank">25432724</a><a href="/pmc/articles/PMC4248237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6621003">Focal cranial dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Golper LA,
|
||
Nutt JG,
|
||
Rau MT,
|
||
Coleman RO</span><br />
|
||
<span class="medgenPMjournal">J Speech Hear Disord</span>
|
||
1983 May;48(2):128-34.
|
||
doi: 10.1044/jshd.4802.128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6621003" target="_blank">6621003</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oromandibular%20dystonia%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 (94)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38612382">Genetic Update and Treatment for Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koptielow J,
|
||
Szyłak E,
|
||
Szewczyk-Roszczenko O,
|
||
Roszczenko P,
|
||
Kochanowicz J,
|
||
Kułakowska A,
|
||
Chorąży M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Mar 22;25(7)
|
||
doi: 10.3390/ijms25073571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38612382" target="_blank">38612382</a><a href="/pmc/articles/PMC11011602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26314978">Oromandibular dystonia: differential diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan J,
|
||
Anwer HM,
|
||
Eliav E,
|
||
Heir G</span><br />
|
||
<span class="medgenPMjournal">J Am Dent Assoc</span>
|
||
2015 Sep;146(9):690-3.
|
||
doi: 10.1016/j.adaj.2014.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26314978" target="_blank">26314978</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25432724">Diagnosis and treatment of dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA,
|
||
Factor SA</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2015 Feb;33(1):77-100.
|
||
doi: 10.1016/j.ncl.2014.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25432724" target="_blank">25432724</a><a href="/pmc/articles/PMC4248237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18343330">Orofacial movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balasubramaniam R,
|
||
Ram S</span><br />
|
||
<span class="medgenPMjournal">Oral Maxillofac Surg Clin North Am</span>
|
||
2008 May;20(2):273-85, vii.
|
||
doi: 10.1016/j.coms.2007.12.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18343330" target="_blank">18343330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8226604">Meige's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma RK,
|
||
Gupta BK,
|
||
Kochar SK,
|
||
Poonia A,
|
||
Kochar DK</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
1993 Mar;41(3):173-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8226604" target="_blank">8226604</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oromandibular%20dystonia%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 (130)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36287936">Botulinum Toxin, a Drug with Potential Interest for Dentists-An Introduction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakke M</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2022 Sep 25;14(10)
|
||
doi: 10.3390/toxins14100667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36287936" target="_blank">36287936</a><a href="/pmc/articles/PMC9607019" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34564609">Effects of Botulinum Toxin Type A on Pain among Trigeminal Neuralgia, Myofascial Temporomandibular Disorders, and Oromandibular Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida K</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2021 Aug 29;13(9)
|
||
doi: 10.3390/toxins13090605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34564609" target="_blank">34564609</a><a href="/pmc/articles/PMC8471742" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32331272">Treatment of Blepharospasm and Oromandibular Dystonia with Botulinum Toxins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassell TJW,
|
||
Charles D</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2020 Apr 22;12(4)
|
||
doi: 10.3390/toxins12040269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32331272" target="_blank">32331272</a><a href="/pmc/articles/PMC7232182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28424916">Bilateral pallidotomy for Meige syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minkin K,
|
||
Gabrovski K,
|
||
Dimova P,
|
||
Tanova R,
|
||
Penkov M,
|
||
Todorov Y,
|
||
Romansky K</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2017 Jul;159(7):1359-1363.
|
||
Epub 2017 Apr 19
|
||
doi: 10.1007/s00701-017-3178-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28424916" target="_blank">28424916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2259358">Tardive eating dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Achiron A,
|
||
Melamed E</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
1990;5(4):331-3.
|
||
doi: 10.1002/mds.870050415.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2259358" target="_blank">2259358</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oromandibular%20dystonia%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 (155)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35636057">Botulinum toxin injections in jaw-opening dystonia. The lateral pterygoid - maxillary artery problem.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ünal S,
|
||
Tugra Karaarslan-Turk F,
|
||
Akbostanci MC,
|
||
Peker E,
|
||
Yilmaz R</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2022 Jul;101:217-220.
|
||
Epub 2022 May 26
|
||
doi: 10.1016/j.jocn.2022.05.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35636057" target="_blank">35636057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33956216">Prevalence and incidence of oromandibular dystonia: an oral and maxillofacial surgery service-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida K</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2021 Oct;25(10):5755-5764.
|
||
Epub 2021 May 6
|
||
doi: 10.1007/s00784-021-03878-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33956216" target="_blank">33956216</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32043823">Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang X,
|
||
Zhang J,
|
||
Jiang Y,
|
||
Wang J,
|
||
Wu Y</span><br />
|
||
<span class="medgenPMjournal">CNS Neurosci Ther</span>
|
||
2020 Jul;26(7):754-761.
|
||
Epub 2020 Feb 11
|
||
doi: 10.1111/cns.13294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32043823" target="_blank">32043823</a><a href="/pmc/articles/PMC7298993" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28424916">Bilateral pallidotomy for Meige syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minkin K,
|
||
Gabrovski K,
|
||
Dimova P,
|
||
Tanova R,
|
||
Penkov M,
|
||
Todorov Y,
|
||
Romansky K</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2017 Jul;159(7):1359-1363.
|
||
Epub 2017 Apr 19
|
||
doi: 10.1007/s00701-017-3178-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28424916" target="_blank">28424916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15022184">Long-term follow-up of cervical dystonia patients treated with botulinum toxin A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haussermann P,
|
||
Marczoch S,
|
||
Klinger C,
|
||
Landgrebe M,
|
||
Conrad B,
|
||
Ceballos-Baumann A</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2004 Mar;19(3):303-8.
|
||
doi: 10.1002/mds.10659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15022184" target="_blank">15022184</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oromandibular%20dystonia%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 (56)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39728804">Treatment with OnabotulinumtoxinA for Oromandibular Dystonia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida K,
|
||
Kaji R</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2024 Dec 16;16(12)
|
||
doi: 10.3390/toxins16120546.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39728804" target="_blank">39728804</a><a href="/pmc/articles/PMC11679302" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34979293">Pathophysiological mechanisms of oromandibular dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manzo N,
|
||
Ginatempo F,
|
||
Belvisi D,
|
||
Defazio G,
|
||
Conte A,
|
||
Deriu F,
|
||
Berardelli A</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2022 Feb;134:73-80.
|
||
Epub 2021 Dec 21
|
||
doi: 10.1016/j.clinph.2021.11.075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34979293" target="_blank">34979293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29453996">Systematic review of botulinum toxin treatment for oromandibular dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Comella CL</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2018 Jun 1;147:96-99.
|
||
Epub 2018 Feb 14
|
||
doi: 10.1016/j.toxicon.2018.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29453996" target="_blank">29453996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28424916">Bilateral pallidotomy for Meige syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minkin K,
|
||
Gabrovski K,
|
||
Dimova P,
|
||
Tanova R,
|
||
Penkov M,
|
||
Todorov Y,
|
||
Romansky K</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2017 Jul;159(7):1359-1363.
|
||
Epub 2017 Apr 19
|
||
doi: 10.1007/s00701-017-3178-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28424916" target="_blank">28424916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23400857">The spectrum of movement disorders in children with anti-NMDA receptor encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baizabal-Carvallo JF,
|
||
Stocco A,
|
||
Muscal E,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2013 Apr;28(4):543-7.
|
||
Epub 2013 Feb 11
|
||
doi: 10.1002/mds.25354.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23400857" target="_blank">23400857</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oromandibular%20dystonia%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 (73)</a></div></div>
|
||
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|
||
|
||
<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/39728804">Treatment with OnabotulinumtoxinA for Oromandibular Dystonia: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida K,
|
||
Kaji R</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2024 Dec 16;16(12)
|
||
doi: 10.3390/toxins16120546.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39728804" target="_blank">39728804</a><a href="/pmc/articles/PMC11679302" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32594465">Oral appliances in the treatment of oromandibular dystonia: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Meyer M,
|
||
Vereecke L,
|
||
Bottenberg P,
|
||
Jacquet W,
|
||
Sims AB,
|
||
Santens P</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2020 Aug;120(4):831-836.
|
||
Epub 2020 Jun 27
|
||
doi: 10.1007/s13760-020-01404-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32594465" target="_blank">32594465</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30604200">Botulinum neurotoxin a therapy efficacy and safety for oromandibular dystonia: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dadgardoust PD,
|
||
Rosales RL,
|
||
Asuncion RM,
|
||
Dressler D</span><br />
|
||
<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
|
||
2019 Feb;126(2):141-148.
|
||
Epub 2019 Jan 2
|
||
doi: 10.1007/s00702-018-1960-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30604200" target="_blank">30604200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29453996">Systematic review of botulinum toxin treatment for oromandibular dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Comella CL</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2018 Jun 1;147:96-99.
|
||
Epub 2018 Feb 14
|
||
doi: 10.1016/j.toxicon.2018.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29453996" target="_blank">29453996</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oromandibular%20dystonia%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 (4)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2242577%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C2242577%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2242577%5bDISCUI%5d" target="_blank">See all (6)</a></total></li>
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