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<meta name="keywords" content="C1963946, abductor spasmodic dysphonia (type), adductor spasmodic dysphonia (type), disease or syndrome, finding, laryngeal dyskinesia, laryngeal dystonia, mixed spasmodic dysphonia (type), spasmodic dysphonia, spasmodic dystonia, spastic dysphonia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=409603
|
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ConceptID=C1963946
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Laryngeal dystonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409603</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.">C1963946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abductor spasmodic dysphonia (type); Adductor spasmodic dysphonia (type); Laryngeal dyskinesia; Mixed spasmodic dysphonia (type); Spasmodic dystonia; Spastic dysphonia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Laryngeal dystonia (3331000119108)</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:0012049">HP:0012049</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000485" target="_blank">MONDO:0000485</a></td></tr>
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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 form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in 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_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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Laryngeal dystonia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="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="matched_ds">Laryngeal 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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||
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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">
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||
<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_381211"><div><strong>Neuroferritinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381211</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:">C1853578</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381211">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436979"><div><strong>Dystonia 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436979</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.">C2677567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.\n\nThe signs and symptoms of dystonia 16 vary among people with the condition. In many affected individuals, the disorder first affects muscles in one or both arms or legs. Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking. In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).\n\nIn dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.\n\nSome people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). In dystonia 16, parkinsonism is relatively mild if it develops at all.\n\nThe signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436979">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482866"><div><strong>Dystonia 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482866</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.">C3281236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dystonia-21 (DYT21) is an autosomal dominant form of pure torsion dystonia, a movement disorder characterized by sustained muscle contractions causing twisting and repetitive movements and abnormal postures (summary by Norgren et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482866">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903483"><div><strong>Acrofacial dysostosis Cincinnati type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903483</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.">C4225317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903483">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_904244"><div><strong>Myoclonic dystonia 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904244</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.">C4225341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myoclonic dystonia-26 (DYT26) is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904244">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_930339"><div><strong>Dystonia 25</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>930339</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.">C4304670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DYT-GNAL caused by a heterozygous GNAL pathogenic variant has been reported in more than 60 individuals to date. It is characterized by adult-onset isolated dystonia (i.e., no neurologic abnormalities other than tremor are evident on neurologic examination). The dystonia is most commonly focal and segmental, and rarely generalized. Dystonia is typically cervical in onset and commonly progresses to the cranial region (oromandibular/jaw, larynx, eyelids) and/or to one arm. Tremor reported in DYT-GNAL may be dystonic (i.e., occurring in a body part that shows at least minimal signs of dystonia) and may precede or follow the onset of dystonia. Intra- and interfamilial variability is considerable. DYT-GNAL caused by biallelic GNAL pathogenic variants, reported to date in two sibs from a consanguineous family, is characterized by mild intellectual disability and childhood-onset hypertonia that progresses to generalized dystonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/930339">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_1794239"><div><strong>Dystonia 32</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794239</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.">C5562029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dystonia-32 (DYT32) is an autosomal recessive neurologic disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or posturing. The onset of symptoms is in adulthood, and the disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. There are no additional neurologic signs or symptoms (summary by Monfrini et al., 2021). In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT32 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 VPS11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794239">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794261"><div><strong>Dystonia, early-onset, and/or spastic paraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794261</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.">C5562051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurologic movement disorder characterized by phenotypic variability, even within the same family. Some patients have onset of progressive focal and generalized dystonia in the first decade, as young as infancy, whereas others develop progressive spastic paraplegia as adults, suggesting that age affects the phenotype. Some patients have manifestations of both disorders. Most patients have ambulation difficulties (Gilbert et al., 2009). Rare patients may show hypotonia and neurodevelopmental delay (Zech et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794261">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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Cincinnati type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 16</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 21</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_930339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 25</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 32</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794261" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia, early-onset, and/or spastic paraplegia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic dystonia 26</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroferritinopathy</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></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/37647998">Laryngeal dystonia: Phenomenology, genetics, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blitzer A,
|
||
Kohli N</span><br />
|
||
<span class="medgenPMjournal">Toxicon</span>
|
||
2023 Sep;233:107258.
|
||
Epub 2023 Aug 28
|
||
doi: 10.1016/j.toxicon.2023.107258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37647998" target="_blank">37647998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29655932">RETRACTED: Outcome Measurement in the Treatment of Spasmodic Dysphonia: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rumbach A,
|
||
Aiken P,
|
||
Novakovic D</span><br />
|
||
<span class="medgenPMjournal">J Voice</span>
|
||
2019 Sep;33(5):810.e13-810.e39.
|
||
Epub 2018 Apr 11
|
||
doi: 10.1016/j.jvoice.2018.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29655932" target="_blank">29655932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29494321">Clinical Practice Guideline: Hoarseness (Dysphonia) (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stachler RJ,
|
||
Francis DO,
|
||
Schwartz SR,
|
||
Damask CC,
|
||
Digoy GP,
|
||
Krouse HJ,
|
||
McCoy SJ,
|
||
Ouellette DR,
|
||
Patel RR,
|
||
Reavis CCW,
|
||
Smith LJ,
|
||
Smith M,
|
||
Strode SW,
|
||
Woo P,
|
||
Nnacheta LC</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2018 Mar;158(1_suppl):S1-S42.
|
||
doi: 10.1177/0194599817751030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29494321" target="_blank">29494321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22laryngeal%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
|
||
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/37482396">Adult-onset focal dystonias: To lump or split.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA,
|
||
DeFazio G</span><br />
|
||
<span class="medgenPMjournal">Int Rev Neurobiol</span>
|
||
2023;169:317-327.
|
||
Epub 2023 Apr 20
|
||
doi: 10.1016/bs.irn.2023.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37482396" target="_blank">37482396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33150406">KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cif L,
|
||
Demailly D,
|
||
Lin JP,
|
||
Barwick KE,
|
||
Sa M,
|
||
Abela L,
|
||
Malhotra S,
|
||
Chong WK,
|
||
Steel D,
|
||
Sanchis-Juan A,
|
||
Ngoh A,
|
||
Trump N,
|
||
Meyer E,
|
||
Vasques X,
|
||
Rankin J,
|
||
Allain MW,
|
||
Applegate CD,
|
||
Attaripour Isfahani S,
|
||
Baleine J,
|
||
Balint B,
|
||
Bassetti JA,
|
||
Baple EL,
|
||
Bhatia KP,
|
||
Blanchet C,
|
||
Burglen L,
|
||
Cambonie G,
|
||
Seng EC,
|
||
Bastaraud SC,
|
||
Cyprien F,
|
||
Coubes C,
|
||
d'Hardemare V;
|
||
Deciphering Developmental Disorders Study,
|
||
Doja A,
|
||
Dorison N,
|
||
Doummar D,
|
||
Dy-Hollins ME,
|
||
Farrelly E,
|
||
Fitzpatrick DR,
|
||
Fearon C,
|
||
Fieg EL,
|
||
Fogel BL,
|
||
Forman EB,
|
||
Fox RG;
|
||
Genomics England Research Consortium,
|
||
Gahl WA,
|
||
Galosi S,
|
||
Gonzalez V,
|
||
Graves TD,
|
||
Gregory A,
|
||
Hallett M,
|
||
Hasegawa H,
|
||
Hayflick SJ,
|
||
Hamosh A,
|
||
Hully M,
|
||
Jansen S,
|
||
Jeong SY,
|
||
Krier JB,
|
||
Krystal S,
|
||
Kumar KR,
|
||
Laurencin C,
|
||
Lee H,
|
||
Lesca G,
|
||
François LL,
|
||
Lynch T,
|
||
Mahant N,
|
||
Martinez-Agosto JA,
|
||
Milesi C,
|
||
Mills KA,
|
||
Mondain M,
|
||
Morales-Briceno H;
|
||
NIHR BioResource,
|
||
Ostergaard JR,
|
||
Pal S,
|
||
Pallais JC,
|
||
Pavillard F,
|
||
Perrigault PF,
|
||
Petersen AK,
|
||
Polo G,
|
||
Poulen G,
|
||
Rinne T,
|
||
Roujeau T,
|
||
Rogers C,
|
||
Roubertie A,
|
||
Sahagian M,
|
||
Schaefer E,
|
||
Selim L,
|
||
Selway R,
|
||
Sharma N,
|
||
Signer R,
|
||
Soldatos AG,
|
||
Stevenson DA,
|
||
Stewart F,
|
||
Tchan M;
|
||
Undiagnosed Diseases Network,
|
||
Verma IC,
|
||
de Vries BBA,
|
||
Wilson JL,
|
||
Wong DA,
|
||
Zaitoun R,
|
||
Zhen D,
|
||
Znaczko A,
|
||
Dale RC,
|
||
de Gusmão CM,
|
||
Friedman J,
|
||
Fung VSC,
|
||
King MD,
|
||
Mohammad SS,
|
||
Rohena L,
|
||
Waugh JL,
|
||
Toro C,
|
||
Raymond FL,
|
||
Topf M,
|
||
Coubes P,
|
||
Gorman KM,
|
||
Kurian MA</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Dec 5;143(11):3242-3261.
|
||
doi: 10.1093/brain/awaa304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33150406" target="_blank">33150406</a><a href="/pmc/articles/PMC7719027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29494321">Clinical Practice Guideline: Hoarseness (Dysphonia) (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stachler RJ,
|
||
Francis DO,
|
||
Schwartz SR,
|
||
Damask CC,
|
||
Digoy GP,
|
||
Krouse HJ,
|
||
McCoy SJ,
|
||
Ouellette DR,
|
||
Patel RR,
|
||
Reavis CCW,
|
||
Smith LJ,
|
||
Smith M,
|
||
Strode SW,
|
||
Woo P,
|
||
Nnacheta LC</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2018 Mar;158(1_suppl):S1-S42.
|
||
doi: 10.1177/0194599817751030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29494321" target="_blank">29494321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18488884">Vocal aging and adductor spasmodic dysphonia: response to botulinum toxin injection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cannito MP,
|
||
Kahane JC,
|
||
Chorna L</span><br />
|
||
<span class="medgenPMjournal">Clin Interv Aging</span>
|
||
2008;3(1):131-51.
|
||
doi: 10.2147/cia.s1416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18488884" target="_blank">18488884</a><a href="/pmc/articles/PMC2544359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16541931">Botulinum toxin for treating spasmodic dysphonia (laryngeal dystonia): a systematic Cochrane review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watts C,
|
||
Nye C,
|
||
Whurr R</span><br />
|
||
<span class="medgenPMjournal">Clin Rehabil</span>
|
||
2006 Feb;20(2):112-22.
|
||
doi: 10.1191/0269215506cr931oa.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16541931" target="_blank">16541931</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Laryngeal%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 (102)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35342202">Antipsychotic-Induced Laryngeal Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Neill JR,
|
||
Stephenson C</span><br />
|
||
<span class="medgenPMjournal">Psychopharmacol Bull</span>
|
||
2022 Feb 25;52(1):61-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35342202" target="_blank">35342202</a><a href="/pmc/articles/PMC8896750" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33166970">Spasmodic Dysphonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin J,
|
||
Sadoughi B</span><br />
|
||
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
|
||
2020;85:133-143.
|
||
Epub 2020 Nov 9
|
||
doi: 10.1159/000456693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33166970" target="_blank">33166970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29655932">RETRACTED: Outcome Measurement in the Treatment of Spasmodic Dysphonia: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rumbach A,
|
||
Aiken P,
|
||
Novakovic D</span><br />
|
||
<span class="medgenPMjournal">J Voice</span>
|
||
2019 Sep;33(5):810.e13-810.e39.
|
||
Epub 2018 Apr 11
|
||
doi: 10.1016/j.jvoice.2018.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29655932" target="_blank">29655932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29494321">Clinical Practice Guideline: Hoarseness (Dysphonia) (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stachler RJ,
|
||
Francis DO,
|
||
Schwartz SR,
|
||
Damask CC,
|
||
Digoy GP,
|
||
Krouse HJ,
|
||
McCoy SJ,
|
||
Ouellette DR,
|
||
Patel RR,
|
||
Reavis CCW,
|
||
Smith LJ,
|
||
Smith M,
|
||
Strode SW,
|
||
Woo P,
|
||
Nnacheta LC</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2018 Mar;158(1_suppl):S1-S42.
|
||
doi: 10.1177/0194599817751030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29494321" target="_blank">29494321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16469657">Laryngeal dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grillone GA,
|
||
Chan T</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2006 Feb;39(1):87-100.
|
||
doi: 10.1016/j.otc.2005.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16469657" target="_blank">16469657</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Laryngeal%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 (120)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35342202">Antipsychotic-Induced Laryngeal Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Neill JR,
|
||
Stephenson C</span><br />
|
||
<span class="medgenPMjournal">Psychopharmacol Bull</span>
|
||
2022 Feb 25;52(1):61-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35342202" target="_blank">35342202</a><a href="/pmc/articles/PMC8896750" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33166970">Spasmodic Dysphonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin J,
|
||
Sadoughi B</span><br />
|
||
<span class="medgenPMjournal">Adv Otorhinolaryngol</span>
|
||
2020;85:133-143.
|
||
Epub 2020 Nov 9
|
||
doi: 10.1159/000456693.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33166970" target="_blank">33166970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29494321">Clinical Practice Guideline: Hoarseness (Dysphonia) (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stachler RJ,
|
||
Francis DO,
|
||
Schwartz SR,
|
||
Damask CC,
|
||
Digoy GP,
|
||
Krouse HJ,
|
||
McCoy SJ,
|
||
Ouellette DR,
|
||
Patel RR,
|
||
Reavis CCW,
|
||
Smith LJ,
|
||
Smith M,
|
||
Strode SW,
|
||
Woo P,
|
||
Nnacheta LC</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2018 Mar;158(1_suppl):S1-S42.
|
||
doi: 10.1177/0194599817751030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29494321" target="_blank">29494321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16541931">Botulinum toxin for treating spasmodic dysphonia (laryngeal dystonia): a systematic Cochrane review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watts C,
|
||
Nye C,
|
||
Whurr R</span><br />
|
||
<span class="medgenPMjournal">Clin Rehabil</span>
|
||
2006 Feb;20(2):112-22.
|
||
doi: 10.1191/0269215506cr931oa.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16541931" target="_blank">16541931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16469657">Laryngeal dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grillone GA,
|
||
Chan T</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2006 Feb;39(1):87-100.
|
||
doi: 10.1016/j.otc.2005.11.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16469657" target="_blank">16469657</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Laryngeal%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 (102)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33316367">Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khosravani S,
|
||
Chen G,
|
||
Ozelius LJ,
|
||
Simonyan K</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2021 Jan;148:105223.
|
||
Epub 2020 Dec 11
|
||
doi: 10.1016/j.nbd.2020.105223.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33316367" target="_blank">33316367</a><a href="/pmc/articles/PMC8284879" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32073668">Respiratory Laryngeal Dystonia: Characterization and Diagnosis of a Rare Neurogenic Disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tierney WS,
|
||
Bryson PC,
|
||
Nelson R,
|
||
Kaplan SE,
|
||
Benninger MS,
|
||
Milstein CF</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2020 Dec;130(12):2843-2846.
|
||
Epub 2020 Feb 19
|
||
doi: 10.1002/lary.28559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32073668" target="_blank">32073668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26200329">Botulinum toxin management of spasmodic dysphonia (laryngeal dystonia): a 12-year experience in more than 900 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blitzer A,
|
||
Brin MF,
|
||
Stewart CF</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2015 Aug;125(8):1751-7.
|
||
doi: 10.1002/lary.25273.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26200329" target="_blank">26200329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23712421">Laryngeal dystonia gravidarum: sudden onset of adductor spasmodic dysphonia in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ankola A,
|
||
Sulica L,
|
||
Murry T</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2013 Dec;123(12):3127-30.
|
||
Epub 2013 May 30
|
||
doi: 10.1002/lary.24225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23712421" target="_blank">23712421</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2572029">Acute laryngeal dystonic reactions to neuroleptics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koek RJ,
|
||
Pi EH</span><br />
|
||
<span class="medgenPMjournal">Psychosomatics</span>
|
||
1989 Fall;30(4):359-64.
|
||
doi: 10.1016/S0033-3182(89)72240-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2572029" target="_blank">2572029</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Laryngeal%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 (29)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31477348">Quality of Life After Botulinum Toxin Injection in Patients With Adductor Spasmodic Dysphonia; a Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faham M,
|
||
Ahmadi A,
|
||
Silverman E,
|
||
Harouni GG,
|
||
Dabirmoghaddam P</span><br />
|
||
<span class="medgenPMjournal">J Voice</span>
|
||
2021 Mar;35(2):271-283.
|
||
Epub 2019 Aug 30
|
||
doi: 10.1016/j.jvoice.2019.07.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31477348" target="_blank">31477348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33150406">KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cif L,
|
||
Demailly D,
|
||
Lin JP,
|
||
Barwick KE,
|
||
Sa M,
|
||
Abela L,
|
||
Malhotra S,
|
||
Chong WK,
|
||
Steel D,
|
||
Sanchis-Juan A,
|
||
Ngoh A,
|
||
Trump N,
|
||
Meyer E,
|
||
Vasques X,
|
||
Rankin J,
|
||
Allain MW,
|
||
Applegate CD,
|
||
Attaripour Isfahani S,
|
||
Baleine J,
|
||
Balint B,
|
||
Bassetti JA,
|
||
Baple EL,
|
||
Bhatia KP,
|
||
Blanchet C,
|
||
Burglen L,
|
||
Cambonie G,
|
||
Seng EC,
|
||
Bastaraud SC,
|
||
Cyprien F,
|
||
Coubes C,
|
||
d'Hardemare V;
|
||
Deciphering Developmental Disorders Study,
|
||
Doja A,
|
||
Dorison N,
|
||
Doummar D,
|
||
Dy-Hollins ME,
|
||
Farrelly E,
|
||
Fitzpatrick DR,
|
||
Fearon C,
|
||
Fieg EL,
|
||
Fogel BL,
|
||
Forman EB,
|
||
Fox RG;
|
||
Genomics England Research Consortium,
|
||
Gahl WA,
|
||
Galosi S,
|
||
Gonzalez V,
|
||
Graves TD,
|
||
Gregory A,
|
||
Hallett M,
|
||
Hasegawa H,
|
||
Hayflick SJ,
|
||
Hamosh A,
|
||
Hully M,
|
||
Jansen S,
|
||
Jeong SY,
|
||
Krier JB,
|
||
Krystal S,
|
||
Kumar KR,
|
||
Laurencin C,
|
||
Lee H,
|
||
Lesca G,
|
||
François LL,
|
||
Lynch T,
|
||
Mahant N,
|
||
Martinez-Agosto JA,
|
||
Milesi C,
|
||
Mills KA,
|
||
Mondain M,
|
||
Morales-Briceno H;
|
||
NIHR BioResource,
|
||
Ostergaard JR,
|
||
Pal S,
|
||
Pallais JC,
|
||
Pavillard F,
|
||
Perrigault PF,
|
||
Petersen AK,
|
||
Polo G,
|
||
Poulen G,
|
||
Rinne T,
|
||
Roujeau T,
|
||
Rogers C,
|
||
Roubertie A,
|
||
Sahagian M,
|
||
Schaefer E,
|
||
Selim L,
|
||
Selway R,
|
||
Sharma N,
|
||
Signer R,
|
||
Soldatos AG,
|
||
Stevenson DA,
|
||
Stewart F,
|
||
Tchan M;
|
||
Undiagnosed Diseases Network,
|
||
Verma IC,
|
||
de Vries BBA,
|
||
Wilson JL,
|
||
Wong DA,
|
||
Zaitoun R,
|
||
Zhen D,
|
||
Znaczko A,
|
||
Dale RC,
|
||
de Gusmão CM,
|
||
Friedman J,
|
||
Fung VSC,
|
||
King MD,
|
||
Mohammad SS,
|
||
Rohena L,
|
||
Waugh JL,
|
||
Toro C,
|
||
Raymond FL,
|
||
Topf M,
|
||
Coubes P,
|
||
Gorman KM,
|
||
Kurian MA</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2020 Dec 5;143(11):3242-3261.
|
||
doi: 10.1093/brain/awaa304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33150406" target="_blank">33150406</a><a href="/pmc/articles/PMC7719027" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29494321">Clinical Practice Guideline: Hoarseness (Dysphonia) (Update).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stachler RJ,
|
||
Francis DO,
|
||
Schwartz SR,
|
||
Damask CC,
|
||
Digoy GP,
|
||
Krouse HJ,
|
||
McCoy SJ,
|
||
Ouellette DR,
|
||
Patel RR,
|
||
Reavis CCW,
|
||
Smith LJ,
|
||
Smith M,
|
||
Strode SW,
|
||
Woo P,
|
||
Nnacheta LC</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2018 Mar;158(1_suppl):S1-S42.
|
||
doi: 10.1177/0194599817751030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29494321" target="_blank">29494321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18488884">Vocal aging and adductor spasmodic dysphonia: response to botulinum toxin injection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cannito MP,
|
||
Kahane JC,
|
||
Chorna L</span><br />
|
||
<span class="medgenPMjournal">Clin Interv Aging</span>
|
||
2008;3(1):131-51.
|
||
doi: 10.2147/cia.s1416.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18488884" target="_blank">18488884</a><a href="/pmc/articles/PMC2544359" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9750921">Laryngeal dystonia (spasmodic dysphonia): observations of 901 patients and treatment with botulinum toxin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brin MF,
|
||
Blitzer A,
|
||
Stewart C</span><br />
|
||
<span class="medgenPMjournal">Adv Neurol</span>
|
||
1998;78:237-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9750921" target="_blank">9750921</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Laryngeal%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 (66)</a></div></div>
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|
||
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|
||
<div class="nl"><a target="_blank" href="/pubmed/38185029">Antipsychotic-induced acute laryngeal dystonia: A systematic review of case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maguire PA,
|
||
Brazel M,
|
||
Looi JCL</span><br />
|
||
<span class="medgenPMjournal">Schizophr Res</span>
|
||
2024 Feb;264:248-262.
|
||
Epub 2024 Jan 6
|
||
doi: 10.1016/j.schres.2023.12.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38185029" target="_blank">38185029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34363292">The prevalence of anxiety in adult-onset isolated dystonia: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Medina Escobar A,
|
||
Martino D,
|
||
Goodarzi Z</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2021 Dec;28(12):4238-4250.
|
||
Epub 2021 Aug 16
|
||
doi: 10.1111/ene.15050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34363292" target="_blank">34363292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29655932">RETRACTED: Outcome Measurement in the Treatment of Spasmodic Dysphonia: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rumbach A,
|
||
Aiken P,
|
||
Novakovic D</span><br />
|
||
<span class="medgenPMjournal">J Voice</span>
|
||
2019 Sep;33(5):810.e13-810.e39.
|
||
Epub 2018 Apr 11
|
||
doi: 10.1016/j.jvoice.2018.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29655932" target="_blank">29655932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23893443">Dystonia rating scales: critique and recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albanese A,
|
||
Sorbo FD,
|
||
Comella C,
|
||
Jinnah HA,
|
||
Mink JW,
|
||
Post B,
|
||
Vidailhet M,
|
||
Volkmann J,
|
||
Warner TT,
|
||
Leentjens AF,
|
||
Martinez-Martin P,
|
||
Stebbins GT,
|
||
Goetz CG,
|
||
Schrag A</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2013 Jun 15;28(7):874-83.
|
||
doi: 10.1002/mds.25579.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23893443" target="_blank">23893443</a><a href="/pmc/articles/PMC4207366" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16541931">Botulinum toxin for treating spasmodic dysphonia (laryngeal dystonia): a systematic Cochrane review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watts C,
|
||
Nye C,
|
||
Whurr R</span><br />
|
||
<span class="medgenPMjournal">Clin Rehabil</span>
|
||
2006 Feb;20(2):112-22.
|
||
doi: 10.1191/0269215506cr931oa.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16541931" target="_blank">16541931</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Laryngeal%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 (10)</a></div></div>
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