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<meta name="keywords" content="C0393588, dystonia, episodic, dystonia, paroxysmal, episodic dystonia, paroxysmal dystonia, sign or symptom, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Paroxysmal dystonia (Concept Id: C0393588)
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<!--
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UID=97951
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ConceptID=C0393588
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Paroxysmal dystonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97951</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:">C0393588</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Dystonia, Paroxysmal; Paroxysmal Dystonia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Paroxysmal dystonia (230310003)</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:0002268">HP:0002268</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016058" target="_blank">MONDO:0016058</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=200037">ORPHA200037</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Paroxysmal dystonia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><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 Abnormality of movement">Abnormality of movement</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">Paroxysmal dystonia</span><ul><li><span class="TLline"><a href="/medgen/782128" ref="tree=MeSH" title="MedGen record for Benign paroxysmal torticollis of infancy">Benign paroxysmal torticollis of infancy</a></span></li><li><span class="TLline"><a href="/medgen/371427" ref="tree=MeSH" title="MedGen record for Dystonia 9">Dystonia 9</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_334104"><div><strong>Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer cramp syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334104</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.">C1842531</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), with profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures; familial infantile myoclonic epilepsy (FIME), with early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability; progressive myoclonus epilepsy (PME), with action myoclonus, tonic-clonic seizures, ataxia, and progressive neurologic decline; rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC); developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS); autosomal recessive nonsyndromic hearing loss (DFNB); and autosomal dominant nonsyndromic hearing loss (DFNA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334104">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343386"><div><strong>Pyruvate dehydrogenase E2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343386</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.">C1855565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343386">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356123"><div><strong>Infantile convulsions and choreoathetosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356123</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.">C1865926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PRRT2-related disorder, caused by heterozygous pathogenic variants in the gene PRRT2 (associated with aberrant synaptic transmission), is characterized by three core episodic neurologic phenotypes: epilepsy, movement disorder, and migraine. Age at onset and phenotypes range from neonatal/infantile (self-limited [familial] infantile epilepsy), to childhood (childhood absence epilepsy), to adolescence to adulthood (paroxysmal kinesigenic dyskinesia [PKD] or migraine). As individuals with PRRT2-related disorder age, they may exhibit one of more of these core phenotypes in various combinations, either concurrently or sequentially. Additionally, family members with the same pathogenic PRRT2 variant may display different core phenotypes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356123">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370188"><div><strong>Paroxysmal nonkinesigenic dyskinesia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370188</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.">C1970149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of abnormal movement that are brought on by alcohol, caffeine, stress, fatigue, menses, or excitement or develop without a known cause. Episodes are not induced by exercise or sudden movement and do not occur during sleep. An episode is characterized by irregular, jerking or shaking movements that range from mild to severe. In this disorder, the dyskinesia can include slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); and, rarely, flailing movements of the limbs (ballismus). The dyskinesia also affects muscles in the torso and face. The type of abnormal movement varies among affected individuals, even among affected members of the same family. Individuals with familial paroxysmal nonkinesigenic dyskinesia do not lose consciousness during an episode. Most people do not experience any neurological symptoms between episodes.\n\nIndividuals with familial paroxysmal nonkinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or their early teens. Episodes typically last 1 to 4 hours, and the frequency of episodes ranges from several per day to one per year. In some affected individuals, episodes occur less often with age.\n\nFamilial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370188">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1631383"><div><strong>Paroxysmal nonkinesigenic dyskinesia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631383</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.">C4551506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are typically precipitated by coffee, tea, or alcohol; they can also be triggered by excitement, stress, or fatigue, or can be spontaneous. Attacks involve dystonic posturing with choreic and ballistic movements, may be accompanied by a preceding aura, occur while the individual is awake, and are not associated with seizures. Attacks last minutes to hours and rarely occur more than once per day. Attack frequency, duration, severity, and combinations of symptoms vary within and among families. Age of onset is typically in childhood or early teens but can be as late as age 50 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1631383">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645412"><div><strong>Encephalopathy due to GLUT1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645412</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.">C4551966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glucose transporter type 1 deficiency syndrome (Glut1DS) is a disorder of brain energy metabolism. Glucose, the essential metabolic fuel for the brain, is transported into the brain exclusively by the protein glucose transporter type 1 (Glut1) across the endothelial cells forming the blood-brain barrier (BBB). Glut1DS results from the inability of Glut1 to transfer sufficient glucose across the BBB to meet the glucose demands of the brain. The needs of the brain for glucose increase rapidly after birth, peaking in early childhood, remaining high until about age 10 years, then gradually decreasing throughout adolescence and plateauing in early adulthood. When first diagnosed in infancy to early childhood, the predominant clinical findings of Glut1DS are paroxysmal eye-head movements, pharmacoresistant seizures of varying types, deceleration of head growth, and developmental delay. Subsequently children develop complex movement disorders and intellectual disability ranging from mild to severe. Institution of ketogenic diet therapies (KDTs) helps with early neurologic growth and development and seizure control. Typically, the earlier the treatment the better the long-term clinical outcome. When first diagnosed in later childhood to adulthood (occasionally in a parent following the diagnosis of an affected child), the predominant clinical findings of Glut1DS are usually complex paroxysmal movement disorders, spasticity, ataxia, dystonia, speech difficulty, and intellectual disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645412">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1636366"><div><strong>Episodic kinesigenic dyskinesia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636366</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.">C4552000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PRRT2-related disorder, caused by heterozygous pathogenic variants in the gene PRRT2 (associated with aberrant synaptic transmission), is characterized by three core episodic neurologic phenotypes: epilepsy, movement disorder, and migraine. Age at onset and phenotypes range from neonatal/infantile (self-limited [familial] infantile epilepsy), to childhood (childhood absence epilepsy), to adolescence to adulthood (paroxysmal kinesigenic dyskinesia [PKD] or migraine). As individuals with PRRT2-related disorder age, they may exhibit one of more of these core phenotypes in various combinations, either concurrently or sequentially. Additionally, family members with the same pathogenic PRRT2 variant may display different core phenotypes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1636366">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1633501"><div><strong>Developmental and epileptic encephalopathy, 64</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633501</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.">C4693899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-64 (DEE64) is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633501">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809583"><div><strong>Pontocerebellar hypoplasia, IIA 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809583</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.">C5676999</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pontocerebellar hypoplasia type 17 (PCH17) is a severe autosomal recessive developmental disorder characterized by neonatal hypotonia, severe feeding difficulties, and respiratory insufficiency. Brain imaging shows cerebellar and brainstem hypoplasia. Most affected individuals die in infancy. Those who survive show variable developmental delay. Other features of the disorder include distal hypertonia, poor overall growth, visual defects, autonomic problems, dysmorphic features, and seizures (Coolen et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809583">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1633501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 64</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy due to GLUT1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1636366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic kinesigenic dyskinesia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile convulsions and choreoathetosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paroxysmal nonkinesigenic dyskinesia 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370188" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paroxysmal nonkinesigenic dyskinesia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia, IIA 17</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyruvate dehydrogenase E2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer cramp syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36794704">Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Welniarz Q,
|
||
Gras D,
|
||
Roubertie A,
|
||
Papadopoulou MT,
|
||
Panagiotakaki E,
|
||
Roze E</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 May;38(5):906-907.
|
||
Epub 2023 Feb 16
|
||
doi: 10.1002/mds.29357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36794704" target="_blank">36794704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24588501">Dystonia--new advances in classification, genetics, pathophysiology and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skogseid IM</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand Suppl</span>
|
||
2014;(198):13-9.
|
||
doi: 10.1111/ane.12231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24588501" target="_blank">24588501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20482602">EFNS guidelines on diagnosis and treatment of primary dystonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albanese A,
|
||
Asmus F,
|
||
Bhatia KP,
|
||
Elia AE,
|
||
Elibol B,
|
||
Filippini G,
|
||
Gasser T,
|
||
Krauss JK,
|
||
Nardocci N,
|
||
Newton A,
|
||
Valls-Solé J</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2011 Jan;18(1):5-18.
|
||
doi: 10.1111/j.1468-1331.2010.03042.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20482602" target="_blank">20482602</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22paroxysmal%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 (7)</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/33588936">Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao L,
|
||
Huang X,
|
||
Wang N,
|
||
Wu Z,
|
||
Zhang C,
|
||
Gu W,
|
||
Cong S,
|
||
Ma J,
|
||
Wei L,
|
||
Deng Y,
|
||
Fang Q,
|
||
Niu Q,
|
||
Wang J,
|
||
Wang Z,
|
||
Yin Y,
|
||
Tian J,
|
||
Tian S,
|
||
Bi H,
|
||
Jiang H,
|
||
Liu X,
|
||
Lü Y,
|
||
Sun M,
|
||
Wu J,
|
||
Xu E,
|
||
Chen T,
|
||
Chen T,
|
||
Chen X,
|
||
Li W,
|
||
Li S,
|
||
Li Q,
|
||
Song X,
|
||
Tang Y,
|
||
Yang P,
|
||
Yang Y,
|
||
Zhang M,
|
||
Zhang X,
|
||
Zhang Y,
|
||
Zhang R,
|
||
Ouyang Y,
|
||
Yu J,
|
||
Hu Q,
|
||
Ke Q,
|
||
Yao Y,
|
||
Zhao Z,
|
||
Zhao X,
|
||
Zhao G,
|
||
Liang F,
|
||
Cheng N,
|
||
Han J,
|
||
Peng R,
|
||
Chen S,
|
||
Tang B</span><br />
|
||
<span class="medgenPMjournal">Transl Neurodegener</span>
|
||
2021 Feb 16;10(1):7.
|
||
doi: 10.1186/s40035-021-00231-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33588936" target="_blank">33588936</a><a href="/pmc/articles/PMC7885391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279719">Treatment of Paroxysmal Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Latorre A,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 May;38(2):433-447.
|
||
doi: 10.1016/j.ncl.2020.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279719" target="_blank">32279719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30338517">Movement disorders associated with neuronal antibodies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dash D,
|
||
Pandey S</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2019 Feb;139(2):106-117.
|
||
Epub 2018 Nov 6
|
||
doi: 10.1111/ane.13039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30338517" target="_blank">30338517</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/2296264">The effect of nocturnal physiological sleep on various movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silvestri R,
|
||
De Domenico P,
|
||
Di Rosa AE,
|
||
Bramanti P,
|
||
Serra S,
|
||
Di Perri R</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
1990;5(1):8-14.
|
||
doi: 10.1002/mds.870050104.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2296264" target="_blank">2296264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%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 (64)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/33588936">Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cao L,
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Jiang H,
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Lü Y,
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Song X,
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Tang Y,
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Yang P,
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Yang Y,
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Zhang M,
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Zhang X,
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Zhang Y,
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Zhang R,
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Ouyang Y,
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Yu J,
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Hu Q,
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Ke Q,
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Yao Y,
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Zhao Z,
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Zhao X,
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Zhao G,
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Liang F,
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Cheng N,
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Peng R,
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<div class="nl"><a target="_blank" href="/pubmed/29276650">Paroxysmal Kinesigenic Dyskinesia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Paucar M,
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|
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<div class="nl"><a target="_blank" href="/pubmed/27734647">Paroxysmal Kinesigenic Dyskinesia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mallik R,
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<div class="portlet_content ln"><span class="medgenPMauthor">Almeida L,
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2014 May 27;82(21):1935.
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<span class="bold">PMID: </span><a href="/pubmed/24862895" target="_blank">24862895</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22176811">Propofol-induced paroxysmal dystonia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cosentino C,
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<span class="bold">PMID: </span><a href="/pubmed/22176811" target="_blank">22176811</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%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 (151)</a></div><h3 class="subhead">Therapy</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/29396943">Paroxysmal Kinesigenic Dyskinesia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaushik JS,
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2018 Jan 15;55(1):74.
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<span class="bold">PMID: </span><a href="/pubmed/29396943" target="_blank">29396943</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29276650">Paroxysmal Kinesigenic Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paucar M,
|
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Malmgren H,
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Svenningsson P</span><br />
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<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
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2017;7:529.
|
||
Epub 2017 Dec 12
|
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doi: 10.7916/D8R79N2F.
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<span class="bold">PMID: </span><a href="/pubmed/29276650" target="_blank">29276650</a><a href="/pmc/articles/PMC5740227" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27734647">Paroxysmal Kinesigenic Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mallik R,
|
||
Nandi SS</span><br />
|
||
<span class="medgenPMjournal">J Assoc Physicians India</span>
|
||
2016 Apr;64(4):77-78.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27734647" target="_blank">27734647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24862895">Paroxysmal hypnogenic dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almeida L,
|
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Dure LS</span><br />
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<span class="medgenPMjournal">Neurology</span>
|
||
2014 May 27;82(21):1935.
|
||
doi: 10.1212/WNL.0000000000000451.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24862895" target="_blank">24862895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22176811">Propofol-induced paroxysmal dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cosentino C,
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Torres L</span><br />
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<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
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2012 Feb;18(2):115-6.
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||
Epub 2011 Dec 15
|
||
doi: 10.1016/j.parkreldis.2011.11.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22176811" target="_blank">22176811</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%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 (77)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38227367">An Electroencephalography Profile of Paroxysmal Kinesigenic Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo H,
|
||
Huang X,
|
||
Li Z,
|
||
Tian W,
|
||
Fang K,
|
||
Liu T,
|
||
Wang S,
|
||
Tang B,
|
||
Hu J,
|
||
Yuan TF,
|
||
Cao L</span><br />
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<span class="medgenPMjournal">Adv Sci (Weinh)</span>
|
||
2024 Mar;11(12):e2306321.
|
||
Epub 2024 Jan 16
|
||
doi: 10.1002/advs.202306321.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38227367" target="_blank">38227367</a><a href="/pmc/articles/PMC10966565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35722745">Clinical and genetic characterization of CACNA1A-related disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Lipman AR,
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Fan X,
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Shen Y,
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Chung WK</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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2022 Oct;102(4):288-295.
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Epub 2022 Jun 26
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doi: 10.1111/cge.14180.
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<span class="bold">PMID: </span><a href="/pubmed/35722745" target="_blank">35722745</a><a href="/pmc/articles/PMC9458680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279719">Treatment of Paroxysmal Dyskinesia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Latorre A,
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Bhatia KP</span><br />
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<span class="medgenPMjournal">Neurol Clin</span>
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2020 May;38(2):433-447.
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doi: 10.1016/j.ncl.2020.01.007.
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<span class="bold">PMID: </span><a href="/pubmed/32279719" target="_blank">32279719</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21803516">Disorders of amino acid metabolism associated with epilepsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee WT</span><br />
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<span class="medgenPMjournal">Brain Dev</span>
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2011 Oct;33(9):745-52.
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Epub 2011 Jul 30
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doi: 10.1016/j.braindev.2011.06.014.
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||
<span class="bold">PMID: </span><a href="/pubmed/21803516" target="_blank">21803516</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/17426241">Clinical identification of the simple sleep-related movement disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Walters AS</span><br />
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<span class="medgenPMjournal">Chest</span>
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doi: 10.1378/chest.06-1602.
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<span class="bold">PMID: </span><a href="/pubmed/17426241" target="_blank">17426241</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%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 (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39712145">ATP1A3-Associated Paroxysmal Dystonia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ledoux MS</span><br />
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Epub 2024 Dec 17
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<span class="bold">PMID: </span><a href="/pubmed/39712145" target="_blank">39712145</a><a href="/pmc/articles/PMC11661010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38979912">Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Li YL,
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Lin J,
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Huang X,
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Zeng RH,
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Zhang G,
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Xu JN,
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Lin KJ,
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||
Chen XS,
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He MF,
|
||
Qiao JD,
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||
Cheng X,
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Zhu D,
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Xiong ZQ,
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Chen WJ</span><br />
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<span class="medgenPMjournal">Ann Neurol</span>
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2024 Oct;96(4):758-773.
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Epub 2024 Jul 9
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doi: 10.1002/ana.27018.
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<span class="bold">PMID: </span><a href="/pubmed/38979912" target="_blank">38979912</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38079528">Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ousingsawat J,
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Talbi K,
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Gómez-Martín H,
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Koy A,
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Fernández-Jaén A,
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Tekgül H,
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Serdaroğlu E,
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Schreiber R,
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Ortigoza-Escobar JD,
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Kunzelmann K</span><br />
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2024 Jun 3;147(6):1982-1995.
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doi: 10.1093/brain/awad412.
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<span class="bold">PMID: </span><a href="/pubmed/38079528" target="_blank">38079528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35722745">Clinical and genetic characterization of CACNA1A-related disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lipman AR,
|
||
Fan X,
|
||
Shen Y,
|
||
Chung WK</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Oct;102(4):288-295.
|
||
Epub 2022 Jun 26
|
||
doi: 10.1111/cge.14180.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35722745" target="_blank">35722745</a><a href="/pmc/articles/PMC9458680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33547116">Paroxysmal kinesigenic dyskinesia: a diagnostic challenge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dayasiri K,
|
||
Weerapperuma N,
|
||
Wright J,
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||
Anand G</span><br />
|
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<span class="medgenPMjournal">BMJ Case Rep</span>
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||
2021 Feb 5;14(2)
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||
doi: 10.1136/bcr-2020-235112.
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||
<span class="bold">PMID: </span><a href="/pubmed/33547116" target="_blank">33547116</a><a href="/pmc/articles/PMC7871216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%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 (44)</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/30338517">Movement disorders associated with neuronal antibodies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dash D,
|
||
Pandey S</span><br />
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<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2019 Feb;139(2):106-117.
|
||
Epub 2018 Nov 6
|
||
doi: 10.1111/ane.13039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30338517" target="_blank">30338517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23522528">Movement disorders in multiple sclerosis and other demyelinating diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mehanna R,
|
||
Jankovic J</span><br />
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<span class="medgenPMjournal">J Neurol Sci</span>
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2013 May 15;328(1-2):1-8.
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||
Epub 2013 Mar 19
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||
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||
<span class="bold">PMID: </span><a href="/pubmed/23522528" target="_blank">23522528</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paroxysmal%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 (2)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=200037" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Paroxysmal%20dystonia" 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=(%22paroxysmal%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(%22Paroxysmal%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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