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<meta name="keywords" content="C5562054, disease or syndrome, dystonia 33, dyt33, eif2ak2, 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="Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by Kuipers et al., 2021)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1794264
|
||
ConceptID=C5562054
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Dystonia 33<span class="h1sub">(DYT33)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794264</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:">C5562054</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>DYT33</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="EIF2AK2 - ID: 5610 - NCBI Gene" href="/gene/5610" class="medgenPMinfo">EIF2AK2</a> (2p22.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030513" target="_blank">MONDO:0030513</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619687" target="_blank">619687</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>
|
||
<div class="portlet_content ln">Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by Kuipers et al., 2021). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</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.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</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.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</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.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57864"><div><strong>Neonatal seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57864</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.">C0159020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure occurring within the neonatal period (28 days beyond the full term date).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57864">Feature record</a> | <a href="/medgen?term=%22Neonatal%20seizure%22%5BClinical%20Features%5D%20OR%2057864%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_152944"><div><strong>Limb dystonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152944</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.">C0751093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152944">Feature record</a> | <a href="/medgen?term=%22Limb%20dystonia%22%5BClinical%20Features%5D%20OR%20152944%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_373027"><div><strong>Axial dystonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373027</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.">C1836149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373027">Feature record</a> | <a href="/medgen?term=%22Axial%20dystonia%22%5BClinical%20Features%5D%20OR%20373027%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</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.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334385"><div><strong>Vertical supranuclear gaze palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334385</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.">C1843369</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334385">Feature record</a> | <a href="/medgen?term=%22Vertical%20supranuclear%20gaze%20palsy%22%5BClinical%20Features%5D%20OR%20334385%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertical supranuclear gaze palsy</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373027" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial dystonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb dystonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57864" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li></ul></li></ul></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/37235376">Neutralizing Antibody Formation with OnabotulinumtoxinA (BOTOX(®)) Treatment from Global Registration Studies across Multiple Indications: A Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jankovic J,
|
||
Carruthers J,
|
||
Naumann M,
|
||
Ogilvie P,
|
||
Boodhoo T,
|
||
Attar M,
|
||
Gupta S,
|
||
Singh R,
|
||
Soliman J,
|
||
Yushmanova I,
|
||
Brin MF,
|
||
Shen J</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2023 May 17;15(5)
|
||
doi: 10.3390/toxins15050342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37235376" target="_blank">37235376</a><a href="/pmc/articles/PMC10224273" target="_blank" class="PubMedFree">Free PMC Article</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/29193359">Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhatia KP,
|
||
Bain P,
|
||
Bajaj N,
|
||
Elble RJ,
|
||
Hallett M,
|
||
Louis ED,
|
||
Raethjen J,
|
||
Stamelou M,
|
||
Testa CM,
|
||
Deuschl G;
|
||
Tremor Task Force of the International Parkinson and Movement Disorder Society</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2018 Jan;33(1):75-87.
|
||
Epub 2017 Nov 30
|
||
doi: 10.1002/mds.27121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29193359" target="_blank">29193359</a><a href="/pmc/articles/PMC6530552" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(dystonia%2033)%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 (64)</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/33160719">Intravenous Haloperidol Versus Ondansetron for Cannabis Hyperemesis Syndrome (HaVOC): A Randomized, Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruberto AJ,
|
||
Sivilotti MLA,
|
||
Forrester S,
|
||
Hall AK,
|
||
Crawford FM,
|
||
Day AG</span><br />
|
||
<span class="medgenPMjournal">Ann Emerg Med</span>
|
||
2021 Jun;77(6):613-619.
|
||
Epub 2020 Nov 5
|
||
doi: 10.1016/j.annemergmed.2020.08.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33160719" target="_blank">33160719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28614956">Interventions for treating hyperemesis gravidarum: a Cochrane systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boelig RC,
|
||
Barton SJ,
|
||
Saccone G,
|
||
Kelly AJ,
|
||
Edwards SJ,
|
||
Berghella V</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2018 Sep;31(18):2492-2505.
|
||
Epub 2017 Jul 11
|
||
doi: 10.1080/14767058.2017.1342805.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28614956" target="_blank">28614956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25432730">Psychogenic movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thenganatt MA,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2015 Feb;33(1):205-24.
|
||
doi: 10.1016/j.ncl.2014.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25432730" target="_blank">25432730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25432727">Paroxysmal movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waln O,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2015 Feb;33(1):137-52.
|
||
doi: 10.1016/j.ncl.2014.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25432727" target="_blank">25432727</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dystonia%2033%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 (346)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33098801">Monogenic variants in dystonia: an exome-wide sequencing study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zech M,
|
||
Jech R,
|
||
Boesch S,
|
||
Škorvánek M,
|
||
Weber S,
|
||
Wagner M,
|
||
Zhao C,
|
||
Jochim A,
|
||
Necpál J,
|
||
Dincer Y,
|
||
Vill K,
|
||
Distelmaier F,
|
||
Stoklosa M,
|
||
Krenn M,
|
||
Grunwald S,
|
||
Bock-Bierbaum T,
|
||
Fečíková A,
|
||
Havránková P,
|
||
Roth J,
|
||
Příhodová I,
|
||
Adamovičová M,
|
||
Ulmanová O,
|
||
Bechyně K,
|
||
Danhofer P,
|
||
Veselý B,
|
||
Haň V,
|
||
Pavelekova P,
|
||
Gdovinová Z,
|
||
Mantel T,
|
||
Meindl T,
|
||
Sitzberger A,
|
||
Schröder S,
|
||
Blaschek A,
|
||
Roser T,
|
||
Bonfert MV,
|
||
Haberlandt E,
|
||
Plecko B,
|
||
Leineweber B,
|
||
Berweck S,
|
||
Herberhold T,
|
||
Langguth B,
|
||
Švantnerová J,
|
||
Minár M,
|
||
Ramos-Rivera GA,
|
||
Wojcik MH,
|
||
Pajusalu S,
|
||
Õunap K,
|
||
Schatz UA,
|
||
Pölsler L,
|
||
Milenkovic I,
|
||
Laccone F,
|
||
Pilshofer V,
|
||
Colombo R,
|
||
Patzer S,
|
||
Iuso A,
|
||
Vera J,
|
||
Troncoso M,
|
||
Fang F,
|
||
Prokisch H,
|
||
Wilbert F,
|
||
Eckenweiler M,
|
||
Graf E,
|
||
Westphal DS,
|
||
Riedhammer KM,
|
||
Brunet T,
|
||
Alhaddad B,
|
||
Berutti R,
|
||
Strom TM,
|
||
Hecht M,
|
||
Baumann M,
|
||
Wolf M,
|
||
Telegrafi A,
|
||
Person RE,
|
||
Zamora FM,
|
||
Henderson LB,
|
||
Weise D,
|
||
Musacchio T,
|
||
Volkmann J,
|
||
Szuto A,
|
||
Becker J,
|
||
Cremer K,
|
||
Sycha T,
|
||
Zimprich F,
|
||
Kraus V,
|
||
Makowski C,
|
||
Gonzalez-Alegre P,
|
||
Bardakjian TM,
|
||
Ozelius LJ,
|
||
Vetro A,
|
||
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Jech R,
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Boesch S,
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Wagner M,
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Zhao C,
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Jochim A,
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Dincer Y,
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Roth J,
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Příhodová I,
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Adamovičová M,
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Ulmanová O,
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Bechyně K,
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Danhofer P,
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Veselý B,
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Haň V,
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Pavelekova P,
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Gdovinová Z,
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Schröder S,
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Langguth B,
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Minár M,
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Ramos-Rivera GA,
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Wojcik MH,
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Pajusalu S,
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Õunap K,
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Schatz UA,
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Pölsler L,
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Milenkovic I,
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Laccone F,
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Pilshofer V,
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Colombo R,
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Patzer S,
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Iuso A,
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Vera J,
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Troncoso M,
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Fang F,
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Prokisch H,
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Wilbert F,
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Eckenweiler M,
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Graf E,
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Westphal DS,
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Baumann M,
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Wolf M,
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Telegrafi A,
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Person RE,
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Zamora FM,
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Henderson LB,
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Weise D,
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Musacchio T,
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Volkmann J,
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Szuto A,
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Becker J,
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Cremer K,
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Kraus V,
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Makowski C,
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Gonzalez-Alegre P,
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Ozelius LJ,
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Vetro A,
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Guerrini R,
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|
||
<div class="nl"><a target="_blank" href="/pubmed/29766748">Medical Cannabis for Pediatric Moderate to Severe Complex Motor Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Libzon S,
|
||
Schleider LB,
|
||
Saban N,
|
||
Levit L,
|
||
Tamari Y,
|
||
Linder I,
|
||
Lerman-Sagie T,
|
||
Blumkin L</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2018 Aug;33(9):565-571.
|
||
Epub 2018 May 16
|
||
doi: 10.1177/0883073818773028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29766748" target="_blank">29766748</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28614956">Interventions for treating hyperemesis gravidarum: a Cochrane systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boelig RC,
|
||
Barton SJ,
|
||
Saccone G,
|
||
Kelly AJ,
|
||
Edwards SJ,
|
||
Berghella V</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2018 Sep;31(18):2492-2505.
|
||
Epub 2017 Jul 11
|
||
doi: 10.1080/14767058.2017.1342805.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28614956" target="_blank">28614956</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dystonia%2033%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 (242)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/37400227">Non-Psychosis Symptoms of Clozapine Withdrawal: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yee B,
|
||
Looi JCL,
|
||
Agaciak M,
|
||
Allison S,
|
||
Chan SKW,
|
||
Bastiampillai T</span><br />
|
||
<span class="medgenPMjournal">East Asian Arch Psychiatry</span>
|
||
2023 Jun;33(2):44-64.
|
||
doi: 10.12809/eaap2261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37400227" target="_blank">37400227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33215750">Bilateral Pallidotomy for Dystonia: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Centen LM,
|
||
Oterdoom DLM,
|
||
Tijssen MAJ,
|
||
Lesman-Leegte I,
|
||
van Egmond ME,
|
||
van Dijk JMC</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2021 Mar;36(3):547-557.
|
||
Epub 2020 Nov 20
|
||
doi: 10.1002/mds.28384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33215750" target="_blank">33215750</a><a href="/pmc/articles/PMC8048649" target="_blank" class="PubMedFree">Free PMC Article</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/28614956">Interventions for treating hyperemesis gravidarum: a Cochrane systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boelig RC,
|
||
Barton SJ,
|
||
Saccone G,
|
||
Kelly AJ,
|
||
Edwards SJ,
|
||
Berghella V</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2018 Sep;31(18):2492-2505.
|
||
Epub 2017 Jul 11
|
||
doi: 10.1080/14767058.2017.1342805.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28614956" target="_blank">28614956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15195066">Practice parameter: laryngeal electromyography (an evidence-based review).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sataloff RT,
|
||
Mandel S,
|
||
Mann EA,
|
||
Ludlow CL</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2004 Jun;130(6):770-9.
|
||
doi: 10.1016/j.otohns.2004.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15195066" target="_blank">15195066</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dystonia%2033%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 (21)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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||
</div>
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<div class=" bottom">
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||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619687" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Dystonia%2033" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(dystonia%2033)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=176871" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5610[geneid]" target="_blank">View EIF2AK2 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619687" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/dystonia_33" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Dystonia%2033" target="_blank">MedlinePlus</a></li></ul></div>
|
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<a href="/pubmed?term=Dystonia%2033%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1794264" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cca568f4a390645e87b33e">Dystonia 33</a>
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<div class="tertiary">ClinVar</div>
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