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<meta name="keywords" content="C0013423, childhood torsion disease, disease or syndrome, dystonia deformans musculorum, dystonia deformans progressiva, dystonia musculorum deformans, dystonias, torsion, oppenheim ziehen disease, oppenheim-ziehen disease, primary torsion dystonia, progressive torsion spasm, spasm, progressive torsion, torsion disease of childhood, torsion disease, childhood, torsion dystonia, torsion spasm, progressive, 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="Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=3941
|
||
ConceptID=C0013423
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Torsion dystonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3941</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.">C0013423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Primary torsion dystonia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Torsion dystonia (431034009)</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:0001304">HP:0001304</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0044843" target="_blank">MONDO:0044843</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<div class="portlet 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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN118946[DISCUI]&test_type=Clinical" ref="ncbi_uid=468463">C</a></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"><a href="/medgen/468463" ref="tree=GTR&ncbi_uid=468463&link_uid=468463" title="View MedGen record for 'Ashkenazi Jewish disorders'">Ashkenazi Jewish disorders</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0005859[DISCUI]&test_type=Clinical" ref="ncbi_uid=2685">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=2685" target="_blank" href="/omim/210900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1294%20OR%20NBK1398)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=2685">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2685" ref="ncbi_uid=2685">V</a></span></span><span class="TLline"><a href="/medgen/2685" ref="tree=GTR&ncbi_uid=2685&link_uid=2685" title="View MedGen record for 'Bloom syndrome'">Bloom syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0010674[DISCUI]&test_type=Clinical" ref="ncbi_uid=41393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=41393" target="_blank" href="/omim/219700">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1250/" ref="ncbi_uid=41393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41393" ref="ncbi_uid=41393">V</a></span></span><span class="TLline"><a href="/medgen/41393" ref="tree=GTR&ncbi_uid=41393&link_uid=41393" title="View MedGen record for 'Cystic fibrosis'">Cystic fibrosis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0013364[DISCUI]&test_type=Clinical" ref="ncbi_uid=41678">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=41678" target="_blank" href="/omim/223900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1180/" ref="ncbi_uid=41678">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=41678" ref="ncbi_uid=41678">V</a></span></span><span class="TLline"><a href="/medgen/41678" ref="tree=GTR&ncbi_uid=41678&link_uid=41678" title="View MedGen record for 'Familial dysautonomia'">Familial dysautonomia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3468041[DISCUI]&test_type=Clinical" ref="ncbi_uid=483324">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=483324" target="_blank" href="/omim/227645">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1401/" ref="ncbi_uid=483324">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=483324" ref="ncbi_uid=483324">V</a></span></span><span class="TLline"><a href="/medgen/483324" ref="tree=GTR&ncbi_uid=483324&link_uid=483324" title="View MedGen record for 'Fanconi anemia complementation group C'">Fanconi anemia complementation group C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1961835[DISCUI]&test_type=Clinical" ref="ncbi_uid=409531">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=409531" target="_blank" href="/omim/230800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1269/" ref="ncbi_uid=409531">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=409531" ref="ncbi_uid=409531">V</a></span></span><span class="TLline"><a href="/medgen/409531" ref="tree=GTR&ncbi_uid=409531&link_uid=409531" title="View MedGen record for 'Gaucher disease type I'">Gaucher disease type I</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0238286[DISCUI]&test_type=Clinical" ref="ncbi_uid=68663">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=68663" target="_blank" href="/omim/252650">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1214/" ref="ncbi_uid=68663">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=68663" ref="ncbi_uid=68663">V</a></span></span><span class="TLline"><a href="/medgen/68663" ref="tree=GTR&ncbi_uid=68663&link_uid=68663" title="View MedGen record for 'Mucolipidosis type IV'">Mucolipidosis type IV</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268242[DISCUI]&test_type=Clinical" ref="ncbi_uid=78650">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78650" target="_blank" href="/omim/257200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1370/" ref="ncbi_uid=78650">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78650" ref="ncbi_uid=78650">V</a></span></span><span class="TLline"><a href="/medgen/78650" ref="tree=GTR&ncbi_uid=78650&link_uid=78650" title="View MedGen record for 'Niemann-Pick disease, type A'">Niemann-Pick disease, type A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0206307[DISCUI]&test_type=Clinical" ref="ncbi_uid=61565">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=61565" target="_blank" href="/omim/271900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1234/" ref="ncbi_uid=61565">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=61565" ref="ncbi_uid=61565">V</a></span></span><span class="TLline"><a href="/medgen/61565" ref="tree=GTR&ncbi_uid=61565&link_uid=61565" title="View MedGen record for 'Spongy degeneration of central nervous system'">Spongy degeneration of central nervous system</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0039373[DISCUI]&test_type=Clinical" ref="ncbi_uid=11713">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=11713" target="_blank" href="/omim/272800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1218/" ref="ncbi_uid=11713">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=11713" ref="ncbi_uid=11713">V</a></span></span><span class="TLline"><a href="/medgen/11713" ref="tree=GTR&ncbi_uid=11713&link_uid=11713" title="View MedGen record for 'Tay-Sachs disease'">Tay-Sachs disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN120377[DISCUI]&test_type=Clinical" ref="ncbi_uid=468543">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1218/" ref="ncbi_uid=468543">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468543" ref="tree=GTR&ncbi_uid=468543&link_uid=468543" title="View MedGen record for 'Juvenile (Subacute) Hexosaminidase A Deficiency'">Juvenile (Subacute) Hexosaminidase A Deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848914[DISCUI]&test_type=Clinical" ref="ncbi_uid=336450">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336450" target="_blank" href="/omim/272800">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/336450" ref="tree=GTR&ncbi_uid=336450&link_uid=336450" title="View MedGen record for 'Tay-Sachs disease, B variant, adult form'">Tay-Sachs disease, B variant, adult form</a></span></li></ul></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0013423[DISCUI]&test_type=Clinical" ref="ncbi_uid=3941">C</a></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">Torsion dystonia</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/468463" ref="tree=MeSH" title="MedGen record for Ashkenazi Jewish disorders">Ashkenazi Jewish disorders</a></span><ul><li><span class="matched_ds">Torsion dystonia</span><ul><li><span class="TLline"><a href="/medgen/98279" ref="tree=MeSH" title="MedGen record for Acquired idiopathic torsion dystonia">Acquired idiopathic torsion dystonia</a></span></li><li><span class="TLline"><a href="/medgen/95980" ref="tree=MeSH" title="MedGen record for Familial idiopathic torsion dystonia">Familial idiopathic torsion dystonia</a></span></li></ul></li></ul></li></ul></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">
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<div class="divPopper rprt" id="rdis_163226"><div><strong>Blepharonasofacial malformation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163226</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.">C0796197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/163226">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_236274"><div><strong>Torsion dystonia 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>236274</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1414216</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Torsion dystonia-6 (DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/236274">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_326820"><div><strong>X-linked dystonia-parkinsonism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326820</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.">C1839130</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. Features of parkinsonism include resting tremor, bradykinesia, rigidity, postural instability, and severe shuffling gait. The dystonia develops focally, most commonly in the jaw, neck, trunk, and eyes, and less commonly in the limbs, tongue, pharynx, and larynx, the most characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure parkinsonism have non-disabling symptoms that are only slowly progressive; those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. Female carriers are mostly asymptomatic, though a small minority may manifest dystonia, parkinsonism, or chorea.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/326820">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335918"><div><strong>Torsion dystonia 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335918</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.">C1843264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/335918">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342124"><div><strong>Torsion dystonia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342124</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.">C1851943</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dystonia-4 (DYT4), also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342124">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338823"><div><strong>Early-onset generalized limb-onset dystonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338823</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.">C1851945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">DYT1 early-onset isolated dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing or irregular tremor of a leg or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338823">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_346511"><div><strong>Torsion dystonia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346511</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.">C1857093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Torsion dystonia-2 (DYT2) is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summary by Muller and Kupke, 1990; Nemeth, 2002; Khan et al., 2003).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/346511">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_400706"><div><strong>Torsion dystonia with onset in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400706</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.">C1865205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/400706">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355560"><div><strong>Torsion dystonia 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355560</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.">C1865818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by Leube et al., 1996).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355560">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharonasofacial malformation syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338823" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset generalized limb-onset dystonia</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 13</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 4</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_236274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torsion dystonia with onset in infancy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked dystonia-parkinsonism</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/21907099">Genetics and pharmacological treatment of dystonia.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrett MJ,
|
||
Bressman S</span><br />
|
||
<span class="medgenPMjournal">Int Rev Neurobiol</span>
|
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2011;98:525-49.
|
||
doi: 10.1016/B978-0-12-381328-2.00019-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21907099" target="_blank">21907099</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/8247589">Potency of frozen/thawed botulinum toxin type A in the treatment of torsion dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greene P</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
1993 Nov;109(5):968-9.
|
||
doi: 10.1177/019459989310900537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8247589" target="_blank">8247589</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5529472">Torsion dystonia and spasmodic torticollis--results of treatment with L-dopa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrett RE,
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Yahr MD,
|
||
Duvoisin RC</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1970 Nov;20(11):107-13.
|
||
doi: 10.1212/wnl.20.11_part_2.107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5529472" target="_blank">5529472</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22torsion%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 (17)</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/23622412">Progressive dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein C,
|
||
Münchau A</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1889-97.
|
||
doi: 10.1016/B978-0-444-59565-2.00059-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622412" target="_blank">23622412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22635129">Factitious torsion dystonia in rehabilitation: a singular new case and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beis JM,
|
||
Bertoni N,
|
||
Isner-Horobeti ME,
|
||
Kandel M,
|
||
Mainard D,
|
||
Martinet N,
|
||
Chapelain LL,
|
||
Paysant J</span><br />
|
||
<span class="medgenPMjournal">NeuroRehabilitation</span>
|
||
2012;30(3):235-7.
|
||
doi: 10.3233/NRE-2012-0750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22635129" target="_blank">22635129</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16987160">Onset and progression of primary torsion dystonia in sporadic and familial cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elia AE,
|
||
Filippini G,
|
||
Bentivoglio AR,
|
||
Fasano A,
|
||
Ialongo T,
|
||
Albanese A</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2006 Oct;13(10):1083-8.
|
||
doi: 10.1111/j.1468-1331.2006.01387.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16987160" target="_blank">16987160</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12785748">Childhood dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uc EY,
|
||
Rodnitzky RL</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2003 Mar;10(1):52-61.
|
||
doi: 10.1016/s1071-9091(02)00010-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12785748" target="_blank">12785748</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7176296">Torsion dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wachtel RC,
|
||
Batshaw ML,
|
||
Eldridge R,
|
||
Jankel W,
|
||
Cataldo M</span><br />
|
||
<span class="medgenPMjournal">Johns Hopkins Med J</span>
|
||
1982 Dec;151(6):355-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7176296" target="_blank">7176296</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Torsion%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 (113)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622412">Progressive dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein C,
|
||
Münchau A</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1889-97.
|
||
doi: 10.1016/B978-0-444-59565-2.00059-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622412" target="_blank">23622412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21047175">The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee LV,
|
||
Rivera C,
|
||
Teleg RA,
|
||
Dantes MB,
|
||
Pasco PM,
|
||
Jamora RD,
|
||
Arancillo J,
|
||
Villareal-Jordan RF,
|
||
Rosales RL,
|
||
Demaisip C,
|
||
Maranon E,
|
||
Peralta O,
|
||
Borres R,
|
||
Tolentino C,
|
||
Monding MJ,
|
||
Sarcia S</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
2011;121 Suppl 1:3-11.
|
||
Epub 2010 Nov 3
|
||
doi: 10.3109/00207454.2010.526728.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21047175" target="_blank">21047175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15824274">Primary torsion dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grundmann K</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
2005 Apr;62(4):682-5.
|
||
doi: 10.1001/archneur.62.4.682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15824274" target="_blank">15824274</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6398404">The varied clinical expressions of dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fahn S</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
1984 Aug;2(3):541-54.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6398404" target="_blank">6398404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5466932">Psychotherapy in torsion dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tec L</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1970 Jan 19;211(3):502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5466932" target="_blank">5466932</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Torsion%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 (119)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/11701630">Estimating allele age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slatkin M,
|
||
Rannala B</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Genomics Hum Genet</span>
|
||
2000;1:225-49.
|
||
doi: 10.1146/annurev.genom.1.1.225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11701630" target="_blank">11701630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8858192">Torsion dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berardelli A,
|
||
Currà A,
|
||
Manfredi M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1996 Aug;9(4):317-20.
|
||
doi: 10.1097/00019052-199608000-00014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8858192" target="_blank">8858192</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1623256">The dystonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Markham CH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol Neurosurg</span>
|
||
1992 Jun;5(3):301-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1623256" target="_blank">1623256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7176296">Torsion dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wachtel RC,
|
||
Batshaw ML,
|
||
Eldridge R,
|
||
Jankel W,
|
||
Cataldo M</span><br />
|
||
<span class="medgenPMjournal">Johns Hopkins Med J</span>
|
||
1982 Dec;151(6):355-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7176296" target="_blank">7176296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/634871">Phenobarbital dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lightman SL</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
1978 Feb;54(628):114-5.
|
||
doi: 10.1136/pgmj.54.628.114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/634871" target="_blank">634871</a><a href="/pmc/articles/PMC2425079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Torsion%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 (72)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36757831">The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
|
||
Lau T,
|
||
Tajsharghi H,
|
||
Karimiani EG,
|
||
Kariminejad A,
|
||
Efthymiou S,
|
||
Zifarelli G,
|
||
Sultan T,
|
||
Toosi MB,
|
||
Sedighzadeh S,
|
||
Siu VM,
|
||
Ortigoza-Escobar JD,
|
||
AlShamsi AM,
|
||
Ibrahim S,
|
||
Al-Sannaa NA,
|
||
Al-Hertani W,
|
||
Sandra W,
|
||
Tarnopolsky M,
|
||
Alavi S,
|
||
Li C,
|
||
Day-Salvatore DL,
|
||
Martínez-González MJ,
|
||
Levandoski KM,
|
||
Bedoukian E,
|
||
Madan-Khetarpal S,
|
||
Idleburg MJ,
|
||
Menezes MJ,
|
||
Siddharth A,
|
||
Platzer K,
|
||
Oppermann H,
|
||
Smitka M,
|
||
Collins F,
|
||
Lek M,
|
||
Shahrooei M,
|
||
Ghavideldarestani M,
|
||
Herman I,
|
||
Rendu J,
|
||
Faure J,
|
||
Baker J,
|
||
Bhambhani V,
|
||
Calderwood L,
|
||
Akhondian J,
|
||
Imannezhad S,
|
||
Mirzadeh HS,
|
||
Hashemi N,
|
||
Doosti M,
|
||
Safi M,
|
||
Ahangari N,
|
||
Torbati PN,
|
||
Abedini S,
|
||
Salpietro V,
|
||
Gulec EY,
|
||
Eshaghian S,
|
||
Ghazavi M,
|
||
Pascher MT,
|
||
Vogel M,
|
||
Abicht A,
|
||
Moutton S,
|
||
Bruel AL,
|
||
Rieubland C,
|
||
Gallati S,
|
||
Strom TM,
|
||
Lochmüller H,
|
||
Mohammadi MH,
|
||
Alvi JR,
|
||
Zackai EH,
|
||
Keena BA,
|
||
Skraban CM,
|
||
Berger SI,
|
||
Andrew EH,
|
||
Rahimian E,
|
||
Morrow MM,
|
||
Wentzensen IM,
|
||
Millan F,
|
||
Henderson LB,
|
||
Dafsari HS,
|
||
Jungbluth H,
|
||
Gomez-Ospina N,
|
||
McRae A,
|
||
Peter M,
|
||
Veltra D,
|
||
Marinakis NM,
|
||
Sofocleous C,
|
||
Ashrafzadeh F,
|
||
Pehlivan D,
|
||
Lemke JR,
|
||
Melki J,
|
||
Benezit A,
|
||
Bauer P,
|
||
Weis D,
|
||
Lupski JR,
|
||
Senderek J,
|
||
Christodoulou J,
|
||
Chung WK,
|
||
Goodchild R,
|
||
Offiah AC,
|
||
Moreno-De-Luca A,
|
||
Suri M,
|
||
Ebrahimi-Fakhari D,
|
||
Houlden H,
|
||
Maroofian R</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Aug 1;146(8):3273-3288.
|
||
doi: 10.1093/brain/awad039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36757831" target="_blank">36757831</a><a href="/pmc/articles/PMC10393417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622412">Progressive dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein C,
|
||
Münchau A</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1889-97.
|
||
doi: 10.1016/B978-0-444-59565-2.00059-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622412" target="_blank">23622412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21047175">The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee LV,
|
||
Rivera C,
|
||
Teleg RA,
|
||
Dantes MB,
|
||
Pasco PM,
|
||
Jamora RD,
|
||
Arancillo J,
|
||
Villareal-Jordan RF,
|
||
Rosales RL,
|
||
Demaisip C,
|
||
Maranon E,
|
||
Peralta O,
|
||
Borres R,
|
||
Tolentino C,
|
||
Monding MJ,
|
||
Sarcia S</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
2011;121 Suppl 1:3-11.
|
||
Epub 2010 Nov 3
|
||
doi: 10.3109/00207454.2010.526728.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21047175" target="_blank">21047175</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 class="nl"><a target="_blank" href="/pubmed/7176296">Torsion dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wachtel RC,
|
||
Batshaw ML,
|
||
Eldridge R,
|
||
Jankel W,
|
||
Cataldo M</span><br />
|
||
<span class="medgenPMjournal">Johns Hopkins Med J</span>
|
||
1982 Dec;151(6):355-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7176296" target="_blank">7176296</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Torsion%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 (52)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36757831">The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saffari A,
|
||
Lau T,
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||
Tajsharghi H,
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Karimiani EG,
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Kariminejad A,
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Efthymiou S,
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Zifarelli G,
|
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Sultan T,
|
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Toosi MB,
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Sedighzadeh S,
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Siu VM,
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Ortigoza-Escobar JD,
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AlShamsi AM,
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Ibrahim S,
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Al-Sannaa NA,
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Al-Hertani W,
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Sandra W,
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Tarnopolsky M,
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Alavi S,
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Li C,
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Day-Salvatore DL,
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Martínez-González MJ,
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Levandoski KM,
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Bedoukian E,
|
||
Madan-Khetarpal S,
|
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Idleburg MJ,
|
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Menezes MJ,
|
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Siddharth A,
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Platzer K,
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Oppermann H,
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Smitka M,
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Collins F,
|
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Lek M,
|
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Shahrooei M,
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Ghavideldarestani M,
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Herman I,
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Rendu J,
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Faure J,
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Baker J,
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Bhambhani V,
|
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Calderwood L,
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Akhondian J,
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Imannezhad S,
|
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Mirzadeh HS,
|
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Hashemi N,
|
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Doosti M,
|
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Safi M,
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Ahangari N,
|
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Torbati PN,
|
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Abedini S,
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Salpietro V,
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Gulec EY,
|
||
Eshaghian S,
|
||
Ghazavi M,
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Pascher MT,
|
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Vogel M,
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Abicht A,
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Moutton S,
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Bruel AL,
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Rieubland C,
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Gallati S,
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Strom TM,
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Lochmüller H,
|
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Mohammadi MH,
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Alvi JR,
|
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Zackai EH,
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Keena BA,
|
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Skraban CM,
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Berger SI,
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Andrew EH,
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Rahimian E,
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Morrow MM,
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Wentzensen IM,
|
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Millan F,
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Henderson LB,
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Dafsari HS,
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Jungbluth H,
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Gomez-Ospina N,
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McRae A,
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Peter M,
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Veltra D,
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Marinakis NM,
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Sofocleous C,
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Ashrafzadeh F,
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Pehlivan D,
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Lemke JR,
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Melki J,
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Benezit A,
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Bauer P,
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Weis D,
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Lupski JR,
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Senderek J,
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Christodoulou J,
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Chung WK,
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Goodchild R,
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Offiah AC,
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Moreno-De-Luca A,
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Suri M,
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Ebrahimi-Fakhari D,
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||
Houlden H,
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||
Maroofian R</span><br />
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||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Aug 1;146(8):3273-3288.
|
||
doi: 10.1093/brain/awad039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36757831" target="_blank">36757831</a><a href="/pmc/articles/PMC10393417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27448549">Thiamine and dystonia 16.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Costantini A,
|
||
Trevi E,
|
||
Pala MI,
|
||
Fancellu R</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2016 Jul 22;2016
|
||
doi: 10.1136/bcr-2016-216721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27448549" target="_blank">27448549</a><a href="/pmc/articles/PMC4964157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16987160">Onset and progression of primary torsion dystonia in sporadic and familial cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elia AE,
|
||
Filippini G,
|
||
Bentivoglio AR,
|
||
Fasano A,
|
||
Ialongo T,
|
||
Albanese A</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2006 Oct;13(10):1083-8.
|
||
doi: 10.1111/j.1468-1331.2006.01387.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16987160" target="_blank">16987160</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3969214">Effect of alcohol on dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biary N,
|
||
Koller W</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1985 Feb;35(2):239-43.
|
||
doi: 10.1212/wnl.35.2.239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3969214" target="_blank">3969214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6683367">Myoclonic dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obeso JA,
|
||
Rothwell JC,
|
||
Lang AE,
|
||
Marsden CD</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1983 Jul;33(7):825-30.
|
||
doi: 10.1212/wnl.33.7.825.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6683367" target="_blank">6683367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Torsion%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 (86)</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/34280321">Understanding Psychiatric Disorders in Idiopathic and Inherited (Monogenic) Forms of Isolated and Combined Dystonia: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lane V,
|
||
Lane M,
|
||
Sturrock A,
|
||
Rickards H</span><br />
|
||
<span class="medgenPMjournal">J Neuropsychiatry Clin Neurosci</span>
|
||
2021 Fall;33(4):295-306.
|
||
Epub 2021 Jul 19
|
||
doi: 10.1176/appi.neuropsych.20110293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34280321" target="_blank">34280321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26164369">Sleep in patients with primary dystonia: A systematic review on the state of research and perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hertenstein E,
|
||
Tang NK,
|
||
Bernstein CJ,
|
||
Nissen C,
|
||
Underwood MR,
|
||
Sandhu HK</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2016 Apr;26:95-107.
|
||
Epub 2015 May 9
|
||
doi: 10.1016/j.smrv.2015.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26164369" target="_blank">26164369</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Torsion%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0013423%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0013423%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0013423%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Torsion%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=(%22torsion%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(%22Torsion%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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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Torsion+dystonia/7138" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Torsion%20dystonia" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Torsion%20dystonia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Torsion%20dystonia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0013423[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0013423[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=3941" ref="log$=recordlinks">MeSH</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=3941" ref="log$=recordlinks">PMC Articles</a>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
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||
</div>
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||
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