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<meta name="keywords" content="C0005747, blepharospasm, blepharospasm (spasm of eyelid), blepharospasms, disease or syndrome, eyelid spasm, eyelid twitching, involuntary closure of eyelid, spasm of eyelids, spontaneous closure of eyelid, 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 focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=599
ConceptID=C0005747
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Blepharospasm</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>599</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0005747</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>Blepharospasms</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Spasm of eyelids (59026006); Blepharospasm (spasm of eyelid) (59026006); Blepharospasm (59026006)</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:0000643">HP:0000643</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. [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">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0005747[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=599">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=599" ref="ncbi_uid=599">V</a></span></span><span class="TLline">Blepharospasm</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/871367" ref="tree=MeSH" title="MedGen record for Abnormality of the orbital region">Abnormality of the orbital region</a></span><ul><li><span class="TLline"><a href="/medgen/1670962" ref="tree=MeSH" title="MedGen record for Abnormality of the ocular adnexa">Abnormality of the ocular adnexa</a></span><ul><li><span class="TLline"><a href="/medgen/1670989" ref="tree=MeSH" title="MedGen record for Abnormal ocular adnexa physiology">Abnormal ocular adnexa physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1644818" ref="tree=MeSH" title="MedGen record for Abnormal eyelid physiology">Abnormal eyelid physiology</a></span><ul><li><span class="matched_ds">Blepharospasm</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_6708"><div><strong>Pigmentary pallidal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6708</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0018523</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age &gt;10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6708">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_168057"><div><strong>Deficiency of ferroxidase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>168057</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C0878682</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease is seen in individuals ranging from age 30 years to older than 70 years. The neurologic findings of movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and ataxia (gait ataxia, dysarthria) correspond to regions of iron deposition in the brain. Individuals with aceruloplasminemia often present with anemia prior to onset of DM or obvious neurologic problems. Cognitive dysfunction including apathy and forgetfulness occurs in more than half of individuals with this condition.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/168057">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_220945"><div><strong>Deficiency of aromatic-L-amino-acid decarboxylase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220945</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1291564</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with aromatic L-amino acid decarboxylase (AADC) deficiency typically have complex symptoms, including motor, behavioral, cognitive, and autonomic findings. Symptom onset is in early infancy, typically within the first six months of life. The most common initial symptoms are often nonspecific, and include feeding difficulties, hypotonia, and developmental delay. More specific symptoms include oculogyric crises (which occur in the vast majority of affected individuals, typically starting in infancy), movement disorders (especially dystonia), and autonomic dysfunction (excessive sweating, temperature instability, ptosis, nasal congestion, hypoglycemic episodes). Sleep disturbance is present in a majority of affected individuals and can include insomnia, hypersomnia, or both. Mood disturbance, including irritability and anxiety, are also common. Brain MRI is typically either normal or may demonstrate nonspecific abnormalities, such as mild diffuse cerebral atrophy or delayed myelination. Seizures are an uncommon finding, occurring in fewer than 5% of affected individuals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/220945">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_375031"><div><strong>Epilepsy, familial adult myoclonic, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375031</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1842852</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012).&#13; For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375031">Condition Record</a></div></div>
<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)&#10;Click for more information.">C1843264</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<div class="spaceAbove nowrap">See: <a href="/medgen/335918">Condition Record</a></div></div>
<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)&#10;Click for more information.">C1851945</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<div class="spaceAbove nowrap">See: <a href="/medgen/338823">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_344049"><div><strong>Autosomal recessive early-onset Parkinson disease 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344049</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1853445</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344049">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_381211"><div><strong>Neuroferritinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381211</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1853578</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/381211">Condition Record</a></div></div>
<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)&#10;Click for more information.">C1857093</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<div class="spaceAbove nowrap">See: <a href="/medgen/346511">Condition Record</a></div></div>
<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)&#10;Click for more information.">C1865818</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<div class="spaceAbove nowrap">See: <a href="/medgen/355560">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482866"><div><strong>Dystonia 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482866</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3281236</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dystonia-21 (DYT21) is an autosomal dominant form of pure torsion dystonia, a movement disorder characterized by sustained muscle contractions causing twisting and repetitive movements and abnormal postures (summary by Norgren et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482866">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767288"><div><strong>Dystonia 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767288</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554374</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by Charlesworth et al., 2012).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767288">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_904244"><div><strong>Myoclonic dystonia 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904244</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225341</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Myoclonic dystonia-26 (DYT26) is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/904244">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_908570"><div><strong>Developmental and epileptic encephalopathy, 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908570</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4225361</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by Simons et al., 2015).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/908570">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934601"><div><strong>Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934601</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310634</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MECR-related neurologic disorder is characterized by a progressive childhood-onset movement disorder and optic atrophy; intellect is often but not always preserved. The movement disorder typically presents between ages one and 6.5 years and is mainly dystonia that can be accompanied by chorea and/or ataxia. Over time some affected individuals require assistive devices for mobility. Speech fluency and intelligibility are progressively impaired due to dysarthria. Optic atrophy typically develops between ages four and 12 years and manifests as reduced visual acuity, which can include functional blindness (also known as legal blindness) in adulthood. Because only 13 affected individuals are known to the authors, and because nearly half of them were diagnosed retrospectively as adults, the natural history of disease progression and other aspects of the phenotype have not yet been completely defined.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934601">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1640286"><div><strong>Blepharospasm, benign essential, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640286</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4692845</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1640286">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive early-onset Parkinson disease 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640286" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharospasm, benign essential, susceptibility to</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of aromatic-L-amino-acid decarboxylase</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_168057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of ferroxidase</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 29</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 21</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 24</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities</a></div>
<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>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, familial adult myoclonic, 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic dystonia 26</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroferritinopathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary pallidal degeneration</a></div>
<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>
<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>
<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></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/38612382">Genetic Update and Treatment for Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koptielow J,
Szyłak E,
Szewczyk-Roszczenko O,
Roszczenko P,
Kochanowicz J,
Kułakowska A,
Chorąży M</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Mar 22;25(7)
doi: 10.3390/ijms25073571.
<span class="bold">PMID: </span><a href="/pubmed/38612382" target="_blank">38612382</a><a href="/pmc/articles/PMC11011602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32331272">Treatment of Blepharospasm and Oromandibular Dystonia with Botulinum Toxins.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hassell TJW,
Charles D</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2020 Apr 22;12(4)
doi: 10.3390/toxins12040269.
<span class="bold">PMID: </span><a href="/pubmed/32331272" target="_blank">32331272</a><a href="/pmc/articles/PMC7232182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26875996">Diagnosis, pathophysiology, and treatment of photophobia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Katz BJ,
Digre KB</span><br />
<span class="medgenPMjournal">Surv Ophthalmol</span>
2016 Jul-Aug;61(4):466-77.
Epub 2016 Feb 12
doi: 10.1016/j.survophthal.2016.02.001.
<span class="bold">PMID: </span><a href="/pubmed/26875996" target="_blank">26875996</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22blepharospasm%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 (206)</a></div></div>
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<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
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<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/36136557">Botulinum Toxin-A Current Place in the Treatment of Chronic Migraine and Other Primary Headaches.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kępczyńska K,
Domitrz I</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2022 Sep 5;14(9)
doi: 10.3390/toxins14090619.
<span class="bold">PMID: </span><a href="/pubmed/36136557" target="_blank">36136557</a><a href="/pmc/articles/PMC9501363" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32279713">Medical and Surgical Treatments for Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA</span><br />
<span class="medgenPMjournal">Neurol Clin</span>
2020 May;38(2):325-348.
Epub 2020 Mar 2
doi: 10.1016/j.ncl.2020.01.003.
<span class="bold">PMID: </span><a href="/pubmed/32279713" target="_blank">32279713</a><a href="/pmc/articles/PMC7156436" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25432724">Diagnosis and treatment of dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jinnah HA,
Factor SA</span><br />
<span class="medgenPMjournal">Neurol Clin</span>
2015 Feb;33(1):77-100.
doi: 10.1016/j.ncl.2014.09.002.
<span class="bold">PMID: </span><a href="/pubmed/25432724" target="_blank">25432724</a><a href="/pmc/articles/PMC4248237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23196729">Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lai HJ,
Lin CH,
Wu RM</span><br />
<span class="medgenPMjournal">Acta Neurol Taiwan</span>
2012 Sep;21(3):99-107.
<span class="bold">PMID: </span><a href="/pubmed/23196729" target="_blank">23196729</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11141633">Neuro-ophthalmology of movement disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamilton SR</span><br />
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
2000 Dec;11(6):403-7.
doi: 10.1097/00055735-200012000-00004.
<span class="bold">PMID: </span><a href="/pubmed/11141633" target="_blank">11141633</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blepharospasm%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 (594)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38612382">Genetic Update and Treatment for Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koptielow J,
Szyłak E,
Szewczyk-Roszczenko O,
Roszczenko P,
Kochanowicz J,
Kułakowska A,
Chorąży M</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Mar 22;25(7)
doi: 10.3390/ijms25073571.
<span class="bold">PMID: </span><a href="/pubmed/38612382" target="_blank">38612382</a><a href="/pmc/articles/PMC11011602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32622683">Facial spasms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Blitzer AL,
Phelps PO</span><br />
<span class="medgenPMjournal">Dis Mon</span>
2020 Oct;66(10):101041.
Epub 2020 Jul 1
doi: 10.1016/j.disamonth.2020.101041.
<span class="bold">PMID: </span><a href="/pubmed/32622683" target="_blank">32622683</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26875996">Diagnosis, pathophysiology, and treatment of photophobia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Katz BJ,
Digre KB</span><br />
<span class="medgenPMjournal">Surv Ophthalmol</span>
2016 Jul-Aug;61(4):466-77.
Epub 2016 Feb 12
doi: 10.1016/j.survophthal.2016.02.001.
<span class="bold">PMID: </span><a href="/pubmed/26875996" target="_blank">26875996</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26518078">Primary congenital glaucoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ko F,
Papadopoulos M,
Khaw PT</span><br />
<span class="medgenPMjournal">Prog Brain Res</span>
2015;221:177-89.
Epub 2015 Sep 9
doi: 10.1016/bs.pbr.2015.06.005.
<span class="bold">PMID: </span><a href="/pubmed/26518078" target="_blank">26518078</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22166421">Dystonia: phenomenology.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">LeDoux MS</span><br />
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
2012 Jan;18 Suppl 1(Suppl 1):S162-4.
doi: 10.1016/S1353-8020(11)70050-5.
<span class="bold">PMID: </span><a href="/pubmed/22166421" target="_blank">22166421</a><a href="/pmc/articles/PMC4869992" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blepharospasm%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 (491)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32622683">Facial spasms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Blitzer AL,
Phelps PO</span><br />
<span class="medgenPMjournal">Dis Mon</span>
2020 Oct;66(10):101041.
Epub 2020 Jul 1
doi: 10.1016/j.disamonth.2020.101041.
<span class="bold">PMID: </span><a href="/pubmed/32622683" target="_blank">32622683</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32331272">Treatment of Blepharospasm and Oromandibular Dystonia with Botulinum Toxins.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hassell TJW,
Charles D</span><br />
<span class="medgenPMjournal">Toxins (Basel)</span>
2020 Apr 22;12(4)
doi: 10.3390/toxins12040269.
<span class="bold">PMID: </span><a href="/pubmed/32331272" target="_blank">32331272</a><a href="/pmc/articles/PMC7232182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31747112">Association between cannabis and the eyelids: A comprehensive review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen AX,
Wu AY</span><br />
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
2020 Mar;48(2):230-239.
Epub 2019 Dec 6
doi: 10.1111/ceo.13687.
<span class="bold">PMID: </span><a href="/pubmed/31747112" target="_blank">31747112</a><a href="/pmc/articles/PMC8328051" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29239872">Blepharospasm and Hemifacial Spasm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yen MT</span><br />
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
2018 Winter;58(1):1.
doi: 10.1097/IIO.0000000000000210.
<span class="bold">PMID: </span><a href="/pubmed/29239872" target="_blank">29239872</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15970766">Benign essential blepharospasm.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ben Simon GJ,
McCann JD</span><br />
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
2005 Summer;45(3):49-75.
doi: 10.1097/01.iio.0000167238.26526.a8.
<span class="bold">PMID: </span><a href="/pubmed/15970766" target="_blank">15970766</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blepharospasm%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 (825)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38578115">Blood-Based Proteomics for Adult-Onset Focal Dystonias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Timsina J,
Dinasarapu A,
Kilic-Berkmen G,
Budde J,
Sung YJ,
Klein AM,
Cruchaga C,
Jinnah HA</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2024 Jul;96(1):110-120.
Epub 2024 Apr 5
doi: 10.1002/ana.26929.
<span class="bold">PMID: </span><a href="/pubmed/38578115" target="_blank">38578115</a><a href="/pmc/articles/PMC11186717" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26835998">Episodic Excessive Blinking in Children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mali YP,
Simon JW,
Chaudhri I,
Zobal-Ratner J,
Barry GP</span><br />
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
2016 Jan-Feb;53(1):22-4.
doi: 10.3928/01913913-20150929-18.
<span class="bold">PMID: </span><a href="/pubmed/26835998" target="_blank">26835998</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24524884">Current uses of botulinum toxin A as an adjunct to hand therapy interventions of hand conditions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalliainen LK,
O'Brien VH</span><br />
<span class="medgenPMjournal">J Hand Ther</span>
2014 Apr-Jun;27(2):85-94; quiz 95.
Epub 2013 Dec 10
doi: 10.1016/j.jht.2013.12.003.
<span class="bold">PMID: </span><a href="/pubmed/24524884" target="_blank">24524884</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23114997">The prevalence of primary dystonia: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Steeves TD,
Day L,
Dykeman J,
Jette N,
Pringsheim T</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2012 Dec;27(14):1789-96.
Epub 2012 Oct 31
doi: 10.1002/mds.25244.
<span class="bold">PMID: </span><a href="/pubmed/23114997" target="_blank">23114997</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2076287">Symptomatic nocturnal lagophthalmos.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lyons CJ,
McNab AA</span><br />
<span class="medgenPMjournal">Aust N Z J Ophthalmol</span>
1990 Nov;18(4):393-6.
doi: 10.1111/j.1442-9071.1990.tb01823.x.
<span class="bold">PMID: </span><a href="/pubmed/2076287" target="_blank">2076287</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blepharospasm%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 (241)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38778444">Sex Differences in Dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kilic-Berkmen G,
Scorr LM,
McKay L,
Thayani M,
Donsante Y,
Perlmutter JS,
Norris SA,
Wright L,
Klein C,
Feuerstein JS,
Mahajan A,
Wagle-Shukla A,
Malaty I,
LeDoux MS,
Pirio-Richardson S,
Pantelyat A,
Moukheiber E,
Frank S,
Ondo W,
Saunders-Pullman R,
Lohmann K,
Hess EJ,
Jinnah HA</span><br />
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
2024 Aug;11(8):973-982.
Epub 2024 May 22
doi: 10.1002/mdc3.14059.
<span class="bold">PMID: </span><a href="/pubmed/38778444" target="_blank">38778444</a><a href="/pmc/articles/PMC11329567" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38578115">Blood-Based Proteomics for Adult-Onset Focal Dystonias.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Timsina J,
Dinasarapu A,
Kilic-Berkmen G,
Budde J,
Sung YJ,
Klein AM,
Cruchaga C,
Jinnah HA</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2024 Jul;96(1):110-120.
Epub 2024 Apr 5
doi: 10.1002/ana.26929.
<span class="bold">PMID: </span><a href="/pubmed/38578115" target="_blank">38578115</a><a href="/pmc/articles/PMC11186717" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30231125">Blepharospasm with elevated anti-acetylcholine receptor antibody titer.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang M,
Li W,
Liu P,
He F,
Ji F,
Meng F</span><br />
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
2018 Aug;76(8):522-526.
doi: 10.1590/0004-282X20180076.
<span class="bold">PMID: </span><a href="/pubmed/30231125" target="_blank">30231125</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28424916">Bilateral pallidotomy for Meige syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Minkin K,
Gabrovski K,
Dimova P,
Tanova R,
Penkov M,
Todorov Y,
Romansky K</span><br />
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
2017 Jul;159(7):1359-1363.
Epub 2017 Apr 19
doi: 10.1007/s00701-017-3178-0.
<span class="bold">PMID: </span><a href="/pubmed/28424916" target="_blank">28424916</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2076287">Symptomatic nocturnal lagophthalmos.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lyons CJ,
McNab AA</span><br />
<span class="medgenPMjournal">Aust N Z J Ophthalmol</span>
1990 Nov;18(4):393-6.
doi: 10.1111/j.1442-9071.1990.tb01823.x.
<span class="bold">PMID: </span><a href="/pubmed/2076287" target="_blank">2076287</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blepharospasm%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 (365)</a></div></div>
</div>
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<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/32654779">Botulinum toxin for benign essential blepharospasm: A systematic review and an algorithmic approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rayess YA,
Awaida CJ,
Jabbour SF,
Ballan AS,
Sleilati FH,
Abou Zeid SM,
Nasr MW</span><br />
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
2021 Jan-Feb;177(1-2):107-114.
Epub 2020 Jul 9
doi: 10.1016/j.neurol.2020.03.022.
<span class="bold">PMID: </span><a href="/pubmed/32654779" target="_blank">32654779</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31990980">Oculomotor functions in focal dystonias: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hirsig A,
Barbey C,
Schüpbach MWM,
Bargiotas P</span><br />
<span class="medgenPMjournal">Acta Neurol Scand</span>
2020 May;141(5):359-367.
Epub 2020 Feb 12
doi: 10.1111/ane.13224.
<span class="bold">PMID: </span><a href="/pubmed/31990980" target="_blank">31990980</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28256436">Parkinsonian-Pyramidal syndromes: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tranchant C,
Koob M,
Anheim M</span><br />
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
2017 Jun;39:4-16.
Epub 2017 Feb 22
doi: 10.1016/j.parkreldis.2017.02.025.
<span class="bold">PMID: </span><a href="/pubmed/28256436" target="_blank">28256436</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23747003">Secondary blepharospasm associated with structural lesions of the brain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Khooshnoodi MA,
Factor SA,
Jinnah HA</span><br />
<span class="medgenPMjournal">J Neurol Sci</span>
2013 Aug 15;331(1-2):98-101.
Epub 2013 Jun 6
doi: 10.1016/j.jns.2013.05.022.
<span class="bold">PMID: </span><a href="/pubmed/23747003" target="_blank">23747003</a><a href="/pmc/articles/PMC3732185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23114997">The prevalence of primary dystonia: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Steeves TD,
Day L,
Dykeman J,
Jette N,
Pringsheim T</span><br />
<span class="medgenPMjournal">Mov Disord</span>
2012 Dec;27(14):1789-96.
Epub 2012 Oct 31
doi: 10.1002/mds.25244.
<span class="bold">PMID: </span><a href="/pubmed/23114997" target="_blank">23114997</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Blepharospasm%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (21)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0005747%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
<li><a href="/gtr/tests?term=C0005747%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0005747%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Blepharospasm" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22blepharospasm%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(%22Blepharospasm%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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Blepharospasm/876" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/blepharospasm_benign_essential" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Blepharospasm" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5909/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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