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<meta name="keywords" content="C0743332, disease or syndrome, dystonia, focal, dystonias, focal, focal dystonia, focal dystonias, 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 type of dystonia that is localized to a specific part of the body." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=149279
ConceptID=C0743332
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Focal dystonia</div></h1><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)&#10;Click for more information.">C0743332</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Dystonia, Focal; Dystonias, Focal; Focal Dystonia; Focal Dystonias</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Focal dystonia (445006008)</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:0004373">HP:0004373</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0000477" target="_blank">MONDO:0000477</a></td></tr>
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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">A type of dystonia that is localized to a specific part of the body. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<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>
<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">Focal dystonia</span><ul><li class="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=370752" target="_blank" href="/omim/611284">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/370752" ref="tree=GTR&amp;ncbi_uid=370752&amp;link_uid=370752" title="View MedGen record for 'Occupational dystonia'">Occupational dystonia</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/10113" ref="tree=MeSH" title="MedGen record for Movement disorder">Movement disorder</a></span><ul><li><span class="TLline"><a href="/medgen/8514" ref="tree=MeSH" title="MedGen record for Dyskinesia">Dyskinesia</a></span><ul><li><span class="TLline"><a href="/medgen/3940" ref="tree=MeSH" title="MedGen record for Dystonic disorder">Dystonic disorder</a></span><ul><li><span class="matched_ds">Focal dystonia</span><ul><li><span class="TLline"><a href="/medgen/868612" ref="tree=MeSH" title="MedGen record for Craniofacial dystonia">Craniofacial dystonia</a></span><ul><li><span class="TLline"><a href="/medgen/1377034" ref="tree=MeSH" title="MedGen record for Lingual dystonia">Lingual dystonia</a></span></li><li><span class="TLline"><a href="/medgen/1390897" ref="tree=MeSH" title="MedGen record for Orofacial action-specific dystonia induced by speech">Orofacial action-specific dystonia induced by speech</a></span></li><li><span class="TLline"><a href="/medgen/473560" ref="tree=MeSH" title="MedGen record for Oromandibular dystonia">Oromandibular dystonia</a></span></li><li><span class="TLline"><a href="/medgen/11859" ref="tree=MeSH" title="MedGen record for Torticollis">Torticollis</a></span><ul><li><span class="TLline"><a href="/medgen/854508" ref="tree=MeSH" title="MedGen record for Retrocollis">Retrocollis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/409603" ref="tree=MeSH" title="MedGen record for Laryngeal dystonia">Laryngeal dystonia</a></span></li><li><span class="TLline"><a href="/medgen/370752" ref="tree=MeSH" title="MedGen record for Occupational dystonia">Occupational dystonia</a></span></li><li><span class="TLline"><a href="/medgen/57821" ref="tree=MeSH" title="MedGen record for Writer cramp">Writer cramp</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_163237"><div><strong>Partington syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163237</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)&#10;Click for more information.">C0796250</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Partington syndrome (PRTS) is an X-linked developmental disorder characterized by impaired intellectual development and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (see 308350) to nonsyndromic intellectual disability (300419). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163237">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_343106"><div><strong>Spinocerebellar ataxia type 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343106</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)&#10;Click for more information.">C1854369</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. The average age of onset is in the 30s, with a range from childhood to the seventh decade. Life span is not shortened.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343106">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_401500"><div><strong>Autosomal recessive juvenile Parkinson disease 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401500</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1868675</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Parkin type of early-onset Parkinson disease (PARK-Parkin) is characterized by the cardinal signs of Parkinson disease (PD): bradykinesia, resting tremor, and rigidity. The median age at onset is 31 years (range: 3-81 years). The disease is slowly progressive: disease duration of more than 50 years has been reported. Clinical findings vary; hyperreflexia is common. Lower-limb dystonia may be a presenting sign and cognitive decline appears to be no more frequent than in the general population. Dyskinesia as a result of treatment with levodopa frequently occurs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/401500">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_391003"><div><strong>Torsion dystonia 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>391003</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)&#10;Click for more information.">C2676281</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/391003">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841294"><div><strong>Dystonia 22, adult-onset</strong><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)&#10;Click for more information.">C5830658</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Adult-onset dystonia-22 (DYT22AO) is an autosomal recessive disorder characterized by focal dystonia or tremor and mild cognitive impairment (Mencacci et al., 2021).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841294">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401500" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive juvenile Parkinson disease 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841294" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 22, adult-onset</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Partington syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 14</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_391003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 17</a></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/38612382">Genetic Update and Treatment for Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koptielow J,
Szyłak E,
Szewczyk-Roszczenko O,
Roszczenko P,
Kochanowicz J,
Kułakowska A,
Chorąży M</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Mar 22;25(7)
doi: 10.3390/ijms25073571.
<span class="bold">PMID: </span><a href="/pubmed/38612382" target="_blank">38612382</a><a href="/pmc/articles/PMC11011602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35947366">Brain-Computer Interfaces for Treatment of Focal Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simonyan K,
Ehrlich SK,
Andersen R,
Brumberg J,
Guenther F,
Hallett M,
Howard MA,
Millán JDR,
Reilly RB,
Schultz T,
Valeriani D</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2022 Sep;37(9):1798-1802.
Epub 2022 Aug 10
doi: 10.1002/mds.29178.
<span class="bold">PMID: </span><a href="/pubmed/35947366" target="_blank">35947366</a><a href="/pmc/articles/PMC9474652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31272925">Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niemann N,
Jankovic J</span><br />
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
2019 Oct;67:74-89.
Epub 2019 Jun 30
doi: 10.1016/j.parkreldis.2019.06.025.
<span class="bold">PMID: </span><a href="/pubmed/31272925" target="_blank">31272925</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22focal%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 (96)</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/35036047">Sports-Related Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lenka A,
Jankovic J</span><br />
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
2021;11:54.
Epub 2021 Dec 21
doi: 10.5334/tohm.670.
<span class="bold">PMID: </span><a href="/pubmed/35036047" target="_blank">35036047</a><a href="/pmc/articles/PMC8698216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33466571">Botulinum Toxin: An Update on Pharmacology and Newer Products in Development.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Choudhury S,
Baker MR,
Chatterjee S,
Kumar H</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2021 Jan 14;13(1)
doi: 10.3390/toxins13010058.
<span class="bold">PMID: </span><a href="/pubmed/33466571" target="_blank">33466571</a><a href="/pmc/articles/PMC7828686" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19445800">Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snaith A,
Wade D</span><br />
<span class="medgenPMjournal">BMJ Clin Evid</span>
2008 Sep 5;2008
<span class="bold">PMID: </span><a href="/pubmed/19445800" target="_blank">19445800</a><a href="/pmc/articles/PMC2907934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11567922">Instrumental musicians' hazards.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoppmann RA</span><br />
<span class="medgenPMjournal">Occup Med</span>
2001 Oct-Dec;16(4):619-31, iv-v.
<span class="bold">PMID: </span><a href="/pubmed/11567922" target="_blank">11567922</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7766496">Musculoskeletal problems of performing artists.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoppmann RA,
Reid RR</span><br />
<span class="medgenPMjournal">Curr Opin Rheumatol</span>
1995 Mar;7(2):147-50.
doi: 10.1097/00002281-199503000-00014.
<span class="bold">PMID: </span><a href="/pubmed/7766496" target="_blank">7766496</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Focal%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 (380)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38612382">Genetic Update and Treatment for Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koptielow J,
Szyłak E,
Szewczyk-Roszczenko O,
Roszczenko P,
Kochanowicz J,
Kułakowska A,
Chorąży M</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Mar 22;25(7)
doi: 10.3390/ijms25073571.
<span class="bold">PMID: </span><a href="/pubmed/38612382" target="_blank">38612382</a><a href="/pmc/articles/PMC11011602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32285434">Cervical dystonia - improving the effectiveness of botulinum toxin therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tyślerowicz M,
Kiedrzyńska W,
Adamkiewicz B,
Jost WH,
Sławek J</span><br />
<span class="medgenPMjournal">Neurol Neurochir Pol</span>
2020;54(3):232-242.
Epub 2020 Apr 14
doi: 10.5603/PJNNS.a2020.0021.
<span class="bold">PMID: </span><a href="/pubmed/32285434" target="_blank">32285434</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31272925">Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niemann N,
Jankovic J</span><br />
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
2019 Oct;67:74-89.
Epub 2019 Jun 30
doi: 10.1016/j.parkreldis.2019.06.025.
<span class="bold">PMID: </span><a href="/pubmed/31272925" target="_blank">31272925</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29503327">Dystonia: A review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Batla A</span><br />
<span class="medgenPMjournal">Neurol India</span>
2018 Mar-Apr;66(Supplement):S48-S58.
doi: 10.4103/0028-3886.226439.
<span class="bold">PMID: </span><a href="/pubmed/29503327" target="_blank">29503327</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12434791">Blepharospasm: recent advances.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hallett M</span><br />
<span class="medgenPMjournal">Neurology</span>
2002 Nov 12;59(9):1306-12.
doi: 10.1212/01.wnl.0000027361.73814.0e.
<span class="bold">PMID: </span><a href="/pubmed/12434791" target="_blank">12434791</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Focal%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 (345)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33466571">Botulinum Toxin: An Update on Pharmacology and Newer Products in Development.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Choudhury S,
Baker MR,
Chatterjee S,
Kumar H</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2021 Jan 14;13(1)
doi: 10.3390/toxins13010058.
<span class="bold">PMID: </span><a href="/pubmed/33466571" target="_blank">33466571</a><a href="/pmc/articles/PMC7828686" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32285434">Cervical dystonia - improving the effectiveness of botulinum toxin therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tyślerowicz M,
Kiedrzyńska W,
Adamkiewicz B,
Jost WH,
Sławek J</span><br />
<span class="medgenPMjournal">Neurol Neurochir Pol</span>
2020;54(3):232-242.
Epub 2020 Apr 14
doi: 10.5603/PJNNS.a2020.0021.
<span class="bold">PMID: </span><a href="/pubmed/32285434" target="_blank">32285434</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31272925">Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niemann N,
Jankovic J</span><br />
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
2019 Oct;67:74-89.
Epub 2019 Jun 30
doi: 10.1016/j.parkreldis.2019.06.025.
<span class="bold">PMID: </span><a href="/pubmed/31272925" target="_blank">31272925</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25347760">Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snaith A,
Wade D</span><br />
<span class="medgenPMjournal">BMJ Clin Evid</span>
2014 Feb 28;2014
<span class="bold">PMID: </span><a href="/pubmed/25347760" target="_blank">25347760</a><a href="/pmc/articles/PMC3938056" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14871168">Primary blepharospasm: diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Defazio G,
Livrea P</span><br />
<span class="medgenPMjournal">Drugs</span>
2004;64(3):237-44.
doi: 10.2165/00003495-200464030-00002.
<span class="bold">PMID: </span><a href="/pubmed/14871168" target="_blank">14871168</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Focal%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 (315)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/28629634">(123)I-FP-CIT SPECT imaging in blepharospasm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Verdal M,
Renard D,
Collombier L,
Castelnovo G</span><br />
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
2017 Dec;173(10):645-649.
Epub 2017 Jun 16
doi: 10.1016/j.neurol.2017.05.006.
<span class="bold">PMID: </span><a href="/pubmed/28629634" target="_blank">28629634</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24524884">Current uses of botulinum toxin A as an adjunct to hand therapy interventions of hand conditions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalliainen LK,
O'Brien VH</span><br />
<span class="medgenPMjournal">J Hand Ther</span>
2014 Apr-Jun;27(2):85-94; quiz 95.
Epub 2013 Dec 10
doi: 10.1016/j.jht.2013.12.003.
<span class="bold">PMID: </span><a href="/pubmed/24524884" target="_blank">24524884</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19445800">Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snaith A,
Wade D</span><br />
<span class="medgenPMjournal">BMJ Clin Evid</span>
2008 Sep 5;2008
<span class="bold">PMID: </span><a href="/pubmed/19445800" target="_blank">19445800</a><a href="/pmc/articles/PMC2907934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7766496">Musculoskeletal problems of performing artists.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoppmann RA,
Reid RR</span><br />
<span class="medgenPMjournal">Curr Opin Rheumatol</span>
1995 Mar;7(2):147-50.
doi: 10.1097/00002281-199503000-00014.
<span class="bold">PMID: </span><a href="/pubmed/7766496" target="_blank">7766496</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8255463">Rapid-onset dystonia-parkinsonism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dobyns WB,
Ozelius LJ,
Kramer PL,
Brashear A,
Farlow MR,
Perry TR,
Walsh LE,
Kasarskis EJ,
Butler IJ,
Breakefield XO</span><br />
<span class="medgenPMjournal">Neurology</span>
1993 Dec;43(12):2596-602.
doi: 10.1212/wnl.43.12.2596.
<span class="bold">PMID: </span><a href="/pubmed/8255463" target="_blank">8255463</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Focal%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 (125)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35025122">Clinical spectrum and management of dystonia in patients with Japanese encephalitis: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aryal R,
Shrestha S,
Homagain S,
Chhetri S,
Shrestha K,
Kharel S,
Karn R,
Rajbhandari R,
Gajurel BP,
Ojha R</span><br />
<span class="medgenPMjournal">Brain Behav</span>
2022 Feb;12(2):e2496.
Epub 2022 Jan 13
doi: 10.1002/brb3.2496.
<span class="bold">PMID: </span><a href="/pubmed/35025122" target="_blank">35025122</a><a href="/pmc/articles/PMC8865161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34544471">Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Souza IA,
Gandini MA,
Zamponi GW</span><br />
<span class="medgenPMjournal">Mol Brain</span>
2021 Sep 20;14(1):145.
doi: 10.1186/s13041-021-00861-z.
<span class="bold">PMID: </span><a href="/pubmed/34544471" target="_blank">34544471</a><a href="/pmc/articles/PMC8451114" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28629634">(123)I-FP-CIT SPECT imaging in blepharospasm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Verdal M,
Renard D,
Collombier L,
Castelnovo G</span><br />
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
2017 Dec;173(10):645-649.
Epub 2017 Jun 16
doi: 10.1016/j.neurol.2017.05.006.
<span class="bold">PMID: </span><a href="/pubmed/28629634" target="_blank">28629634</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21663705">Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snaith A,
Wade D</span><br />
<span class="medgenPMjournal">BMJ Clin Evid</span>
2011 Jun 13;2011
<span class="bold">PMID: </span><a href="/pubmed/21663705" target="_blank">21663705</a><a href="/pmc/articles/PMC3275299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19445800">Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snaith A,
Wade D</span><br />
<span class="medgenPMjournal">BMJ Clin Evid</span>
2008 Sep 5;2008
<span class="bold">PMID: </span><a href="/pubmed/19445800" target="_blank">19445800</a><a href="/pmc/articles/PMC2907934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Focal%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 (253)</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/35025122">Clinical spectrum and management of dystonia in patients with Japanese encephalitis: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aryal R,
Shrestha S,
Homagain S,
Chhetri S,
Shrestha K,
Kharel S,
Karn R,
Rajbhandari R,
Gajurel BP,
Ojha R</span><br />
<span class="medgenPMjournal">Brain Behav</span>
2022 Feb;12(2):e2496.
Epub 2022 Jan 13
doi: 10.1002/brb3.2496.
<span class="bold">PMID: </span><a href="/pubmed/35025122" target="_blank">35025122</a><a href="/pmc/articles/PMC8865161" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33619945">Evidence of rehabilitation therapy in task-specific focal dystonia: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hautekiet A,
Raes K,
Geers S,
Santens P,
Oostra K</span><br />
<span class="medgenPMjournal">Eur J Phys Rehabil Med</span>
2021 mese;57(0):710-719.
Epub 2021 Feb 23
doi: 10.23736/S1973-9087.21.06677-6.
<span class="bold">PMID: </span><a href="/pubmed/33619945" target="_blank">33619945</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25347760">Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snaith A,
Wade D</span><br />
<span class="medgenPMjournal">BMJ Clin Evid</span>
2014 Feb 28;2014
<span class="bold">PMID: </span><a href="/pubmed/25347760" target="_blank">25347760</a><a href="/pmc/articles/PMC3938056" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21663705">Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snaith A,
Wade D</span><br />
<span class="medgenPMjournal">BMJ Clin Evid</span>
2011 Jun 13;2011
<span class="bold">PMID: </span><a href="/pubmed/21663705" target="_blank">21663705</a><a href="/pmc/articles/PMC3275299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19445800">Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Snaith A,
Wade D</span><br />
<span class="medgenPMjournal">BMJ Clin Evid</span>
2008 Sep 5;2008
<span class="bold">PMID: </span><a href="/pubmed/19445800" target="_blank">19445800</a><a href="/pmc/articles/PMC2907934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Focal%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 (31)</a></div></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=(%22focal%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Focal%20dystonia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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