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<meta name="keywords" content="C5830658, disease or syndrome, dystonia 22, adult-onset, dyt22ao, tspoap1, 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="Adult-onset dystonia-22 (DYT22AO) is an autosomal recessive disorder characterized by focal dystonia or tremor and mild cognitive impairment (Mencacci et al., 2021)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1841294
|
||
ConceptID=C5830658
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Dystonia 22, adult-onset<span class="h1sub">(DYT22AO)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841294</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:">C5830658</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>DYT22AO</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="TSPOAP1 - ID: 9256 - NCBI Gene" href="/gene/9256" class="medgenPMinfo">TSPOAP1</a> (17q22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957542" target="_blank">MONDO:0957542</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620456" target="_blank">620456</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">Adult-onset dystonia-22 (DYT22AO) is an autosomal recessive disorder characterized by focal dystonia or tremor and mild cognitive impairment (Mencacci et al., 2021). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<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_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_11859"><div><strong>Torticollis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11859</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.">C0040485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11859">Feature record</a> | <a href="/medgen?term=%22Torticollis%22%5BClinical%20Features%5D%20OR%2011859%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_149279"><div><strong>Focal dystonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>149279</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.">C0743332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of dystonia that is localized to a specific part of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/149279">Feature record</a> | <a href="/medgen?term=%22Focal%20dystonia%22%5BClinical%20Features%5D%20OR%20149279%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_357212"><div><strong>Upper limb postural tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357212</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.">C1867138</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of tremors that is triggered by holding an arm in a fixed position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357212">Feature record</a> | <a href="/medgen?term=%22Upper%20limb%20postural%20tremor%22%5BClinical%20Features%5D%20OR%20357212%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854508"><div><strong>Retrocollis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854508</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.">C3887667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854508">Feature record</a> | <a href="/medgen?term=%22Retrocollis%22%5BClinical%20Features%5D%20OR%20854508%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_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_149279" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal dystonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854508" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrocollis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torticollis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_357212" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upper limb postural tremor</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/30285904">Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nadjar Y,
|
||
Hütter-Moncada AL,
|
||
Latour P,
|
||
Ayrignac X,
|
||
Kaphan E,
|
||
Tranchant C,
|
||
Cintas P,
|
||
Degardin A,
|
||
Goizet C,
|
||
Laurencin C,
|
||
Martzolff L,
|
||
Tilikete C,
|
||
Anheim M,
|
||
Audoin B,
|
||
Deramecourt V,
|
||
De Gaillarbois TD,
|
||
Roze E,
|
||
Lamari F,
|
||
Vanier MT,
|
||
Héron B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Oct 1;13(1):175.
|
||
doi: 10.1186/s13023-018-0913-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30285904" target="_blank">30285904</a><a href="/pmc/articles/PMC6167825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21840890">Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kimmich O,
|
||
Bradley D,
|
||
Whelan R,
|
||
Mulrooney N,
|
||
Reilly RB,
|
||
Hutchinson S,
|
||
O'Riordan S,
|
||
Hutchinson M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2011 Sep;134(Pt 9):2656-63.
|
||
Epub 2011 Aug 11
|
||
doi: 10.1093/brain/awr194.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21840890" target="_blank">21840890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17960812">Molding the sensory cortex: spatial acuity improves after botulinum toxin treatment for cervical dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Walsh R,
|
||
Hutchinson M</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2007 Dec;22(16):2443-6.
|
||
doi: 10.1002/mds.21759.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17960812" target="_blank">17960812</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(dystonia%2022%2C%20adult-onset)%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 (3)</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/39110927">White Matter Microstructural Changes Using Ultra-Strong Diffusion Gradient MRI in Adult-Onset Idiopathic Focal Cervical Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacIver CL,
|
||
Jones D,
|
||
Green K,
|
||
Szewczyk-Krolikowski K,
|
||
Doring A,
|
||
Tax CMW,
|
||
Peall KJ</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Aug 27;103(4):e209695.
|
||
Epub 2024 Aug 7
|
||
doi: 10.1212/WNL.0000000000209695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39110927" target="_blank">39110927</a><a href="/pmc/articles/PMC11319067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38536550">Oromandibular dystonia: from onset to spread a multicenter italian study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trinchillo A,
|
||
Esposito M,
|
||
Terranova C,
|
||
Rizzo V,
|
||
Fabbrini G,
|
||
Ferrazzano G,
|
||
Belvisi D,
|
||
Erro R,
|
||
Barone P,
|
||
Bono F,
|
||
Di Biasio F,
|
||
Bentivoglio AR,
|
||
Lettieri C,
|
||
Altavista MC,
|
||
Scaglione CLM,
|
||
Albanese A,
|
||
Mascia MM,
|
||
Muroni A,
|
||
Pisani A,
|
||
Berardelli A,
|
||
Defazio G</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2024 Sep;45(9):4341-4348.
|
||
Epub 2024 Mar 27
|
||
doi: 10.1007/s10072-024-07488-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38536550" target="_blank">38536550</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37909788">Demographics and Clinical Characteristics Associated with the Spread of New-Onset Laryngeal Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghanouni A,
|
||
Jona N,
|
||
Jinnah HA,
|
||
Kilic-Berkmen G,
|
||
Shelly S,
|
||
Klein AM</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2024 May;134(5):2295-2299.
|
||
Epub 2023 Nov 1
|
||
doi: 10.1002/lary.31146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37909788" target="_blank">37909788</a><a href="/pmc/articles/PMC11157453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31848221">Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berman BD,
|
||
Groth CL,
|
||
Sillau SH,
|
||
Pirio Richardson S,
|
||
Norris SA,
|
||
Junker J,
|
||
Brüggemann N,
|
||
Agarwal P,
|
||
Barbano RL,
|
||
Espay AJ,
|
||
Vizcarra JA,
|
||
Klein C,
|
||
Bäumer T,
|
||
Loens S,
|
||
Reich SG,
|
||
Vidailhet M,
|
||
Bonnet C,
|
||
Roze E,
|
||
Jinnah HA,
|
||
Perlmutter JS</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2020 Mar;91(3):314-320.
|
||
Epub 2019 Dec 17
|
||
doi: 10.1136/jnnp-2019-321794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31848221" target="_blank">31848221</a><a href="/pmc/articles/PMC7024047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25164370">Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romani M,
|
||
Kraoua I,
|
||
Micalizzi A,
|
||
Klaa H,
|
||
Benrhouma H,
|
||
Drissi C,
|
||
Turki I,
|
||
Castellana S,
|
||
Mazza T,
|
||
Valente EM,
|
||
Gouider-Khouja N</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2015 Jan;22(1):178-86.
|
||
Epub 2014 Aug 27
|
||
doi: 10.1111/ene.12552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25164370" target="_blank">25164370</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dystonia%2022%2C%20adult-onset%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/32896024">Social cognition in cervical dystonia: phenotype and relationship to anxiety and depression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellement B,
|
||
Jasaui Y,
|
||
Kathol K,
|
||
Nosratmirshekarlou E,
|
||
Pringsheim T,
|
||
Sarna J,
|
||
Callahan BL,
|
||
Martino D</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2021 Jan;28(1):98-107.
|
||
Epub 2020 Sep 30
|
||
doi: 10.1111/ene.14508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32896024" target="_blank">32896024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32830305">Familial writer's cramp: a clinical clue for inherited coenzyme Q(10) deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amprosi M,
|
||
Zech M,
|
||
Steiger R,
|
||
Nachbauer W,
|
||
Eigentler A,
|
||
Gizewski ER,
|
||
Guger M,
|
||
Indelicato E,
|
||
Boesch S</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2021 Mar;22(1):81-86.
|
||
Epub 2020 Aug 24
|
||
doi: 10.1007/s10048-020-00624-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32830305" target="_blank">32830305</a><a href="/pmc/articles/PMC7997836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31848221">Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berman BD,
|
||
Groth CL,
|
||
Sillau SH,
|
||
Pirio Richardson S,
|
||
Norris SA,
|
||
Junker J,
|
||
Brüggemann N,
|
||
Agarwal P,
|
||
Barbano RL,
|
||
Espay AJ,
|
||
Vizcarra JA,
|
||
Klein C,
|
||
Bäumer T,
|
||
Loens S,
|
||
Reich SG,
|
||
Vidailhet M,
|
||
Bonnet C,
|
||
Roze E,
|
||
Jinnah HA,
|
||
Perlmutter JS</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2020 Mar;91(3):314-320.
|
||
Epub 2019 Dec 17
|
||
doi: 10.1136/jnnp-2019-321794.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31848221" target="_blank">31848221</a><a href="/pmc/articles/PMC7024047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26360238">Non-motor symptoms in patients with adult-onset focal dystonia: Sensory and psychiatric disturbances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conte A,
|
||
Berardelli I,
|
||
Ferrazzano G,
|
||
Pasquini M,
|
||
Berardelli A,
|
||
Fabbrini G</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2016 Jan;22 Suppl 1:S111-4.
|
||
Epub 2015 Sep 3
|
||
doi: 10.1016/j.parkreldis.2015.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26360238" target="_blank">26360238</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dystonia%2022%2C%20adult-onset%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 (22)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30285904">Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nadjar Y,
|
||
Hütter-Moncada AL,
|
||
Latour P,
|
||
Ayrignac X,
|
||
Kaphan E,
|
||
Tranchant C,
|
||
Cintas P,
|
||
Degardin A,
|
||
Goizet C,
|
||
Laurencin C,
|
||
Martzolff L,
|
||
Tilikete C,
|
||
Anheim M,
|
||
Audoin B,
|
||
Deramecourt V,
|
||
De Gaillarbois TD,
|
||
Roze E,
|
||
Lamari F,
|
||
Vanier MT,
|
||
Héron B</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Oct 1;13(1):175.
|
||
doi: 10.1186/s13023-018-0913-4.
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<div class="nl"><a target="_blank" href="/pubmed/31848221">Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.</a></div>
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Groth CL,
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Sillau SH,
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Pirio Richardson S,
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Norris SA,
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Junker J,
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Brüggemann N,
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<div class="nl"><a target="_blank" href="/pubmed/20590804">Focal limb dystonia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pont-Sunyer C,
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Martí MJ,
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Tolosa E</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dystonia%2022%2C%20adult-onset%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38536550">Oromandibular dystonia: from onset to spread a multicenter italian study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Trinchillo A,
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Esposito M,
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Terranova C,
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Rizzo V,
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Fabbrini G,
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Ferrazzano G,
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Belvisi D,
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Erro R,
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Barone P,
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Bono F,
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Di Biasio F,
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Bentivoglio AR,
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Lettieri C,
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Altavista MC,
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Scaglione CLM,
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Albanese A,
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Mascia MM,
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Muroni A,
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Pisani A,
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Berardelli A,
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Defazio G</span><br />
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<span class="medgenPMjournal">Neurol Sci</span>
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2024 Sep;45(9):4341-4348.
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Epub 2024 Mar 27
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doi: 10.1007/s10072-024-07488-7.
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<span class="bold">PMID: </span><a href="/pubmed/38536550" target="_blank">38536550</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37909788">Demographics and Clinical Characteristics Associated with the Spread of New-Onset Laryngeal Dystonia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ghanouni A,
|
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Jona N,
|
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Jinnah HA,
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Kilic-Berkmen G,
|
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Shelly S,
|
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Klein AM</span><br />
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<span class="medgenPMjournal">Laryngoscope</span>
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2024 May;134(5):2295-2299.
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Epub 2023 Nov 1
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doi: 10.1002/lary.31146.
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<span class="bold">PMID: </span><a href="/pubmed/37909788" target="_blank">37909788</a><a href="/pmc/articles/PMC11157453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31848221">Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berman BD,
|
||
Groth CL,
|
||
Sillau SH,
|
||
Pirio Richardson S,
|
||
Norris SA,
|
||
Junker J,
|
||
Brüggemann N,
|
||
Agarwal P,
|
||
Barbano RL,
|
||
Espay AJ,
|
||
Vizcarra JA,
|
||
Klein C,
|
||
Bäumer T,
|
||
Loens S,
|
||
Reich SG,
|
||
Vidailhet M,
|
||
Bonnet C,
|
||
Roze E,
|
||
Jinnah HA,
|
||
Perlmutter JS</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2020 Mar;91(3):314-320.
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Epub 2019 Dec 17
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doi: 10.1136/jnnp-2019-321794.
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<span class="bold">PMID: </span><a href="/pubmed/31848221" target="_blank">31848221</a><a href="/pmc/articles/PMC7024047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/30285904">Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nadjar Y,
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Hütter-Moncada AL,
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Latour P,
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Kaphan E,
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Tranchant C,
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Cintas P,
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Degardin A,
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Goizet C,
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Laurencin C,
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Martzolff L,
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Tilikete C,
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<div class="nl"><a target="_blank" href="/pubmed/28561207">Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.</a></div>
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Kitabayashi N,
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Burton ACE,
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De Goede CGL,
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Desguerre I,
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Lines MA,
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McCullagh G,
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Mojarrad M,
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Narayanan V,
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Orcesi S,
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Ortigoza-Escobar JD,
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Pérez-Dueñas B,
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Petit F,
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Ramsey KM,
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Rasmussen M,
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Rivier F,
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Rodríguez-Pombo P,
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Roubertie A,
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Stödberg TI,
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Toosi MB,
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Toutain A,
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Uettwiller F,
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Ulrick N,
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Vanderver A,
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Waldman A,
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Livingston JH,
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Crow YJ</span><br />
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<span class="medgenPMjournal">Neuropediatrics</span>
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<span class="bold">PMID: </span><a href="/pubmed/28561207" target="_blank">28561207</a><a href="/pmc/articles/PMC5985975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dystonia%2022%2C%20adult-onset%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 (16)</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/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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dystonia%2022%2C%20adult-onset%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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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=620456" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Dystonia%2022,%20adult-onset" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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