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1026 lines
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102 KiB
XML
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<!--
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||
UID=347171
|
||
ConceptID=C1859520
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive spasticity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347171</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.">C1859520</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Spasticity, progressive</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002191">HP:0002191</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Spasticity that increases in degree with time. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Progressive spasticity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/488941" ref="tree=MeSH" title="MedGen record for Abnormal muscle tone">Abnormal muscle tone</a></span><ul><li><span class="TLline"><a href="/medgen/10132" ref="tree=MeSH" title="MedGen record for Hypertonia">Hypertonia</a></span><ul><li><span class="TLline"><a href="/medgen/7753" ref="tree=MeSH" title="MedGen record for Spasticity">Spasticity</a></span><ul><li><span class="matched_ds">Progressive spasticity</span><ul><li><span class="TLline"><a href="/medgen/347944" ref="tree=MeSH" title="MedGen record for Progressive spastic quadriplegia">Progressive spastic quadriplegia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
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</div>
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|
||
<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>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_44131"><div><strong>Galactosylceramide beta-galactosidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44131</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0023521</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 months and as late as the seventh decade). Although historically 85%-90% of symptomatic individuals with Krabbe disease diagnosed by enzyme activity alone have infantile-onset Krabbe disease and 10%-15% have later-onset Krabbe disease, the experience with newborn screening (NBS) suggests that the proportion of individuals with possible later-onset Krabbe disease is higher than previously thought. Infantile-onset Krabbe disease is characterized by normal development in the first few months followed by rapid severe neurologic deterioration; the average age of death is 24 months (range 8 months to 9 years). Later-onset Krabbe disease is much more variable in its presentation and disease course.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44131">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_66358"><div><strong>Abortive cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66358</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.">C0221061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984). Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (606580), result in type III 3-methylglutaconic aciduria (MGCA3; 258501). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66358">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325157"><div><strong>Hypomyelinating leukodystrophy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325157</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.">C1837355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early-infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay, and dysarthria. Over time the hypotonia typically evolves into spasticity that affects the ability to walk and communicate. Cerebellar signs (gait ataxia, dysmetria, intention tremor, head titubation, and dysdiadochokinesia) frequently manifest during childhood. Some individuals develop extrapyramidal movement abnormalities (choreoathetosis and dystonia). Hearing loss and optic atrophy are observed in rare cases. Motor impairments can lead to swallowing difficulty and orthopedic complications, including hip dislocation and scoliosis. Most individuals have normal cognitive skills or mild intellectual disability – which, however, can be difficult to evaluate in the context of profound motor impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325157">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337496"><div><strong>Syndromic X-linked intellectual disability Lubs type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337496</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.">C1846058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by early-onset hypotonia, feeding difficulty, gastrointestinal manifestations including gastroesophageal reflux and constipation, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent respiratory infections (in ~75% of affected individuals), and seizures (in ~50%). MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and a range of findings from mild intellectual disability to a phenotype similar to that seen in males. In addition to the core features, autistic behaviors, nonspecific neuroradiologic findings on brain MRI, mottled skin, and urogenital anomalies have been observed in several affected boys.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337496">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383026"><div><strong>Hypomyelinating leukodystrophy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383026</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.">C2677109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383026">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767363"><div><strong>Severe intellectual disability-progressive spastic diplegia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767363</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.">C3554449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR). Other common findings include truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors and strabismus. Less common features include intrauterine growth restriction, feeding difficulties, and scoliosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767363">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647077"><div><strong>Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647077</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.">C4693405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) is characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647077">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1680067"><div><strong>Leukodystrophy, hypomyelinating, 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1680067</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.">C5193078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1680067">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684820"><div><strong>Basilicata-Akhtar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684820</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.">C5231394</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Basilicata-Akhtar syndrome (MRXSBA) is characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity. Additional findings include dysmorphic facial features and mild distal skeletal anomalies. Males and females are similarly affected (summary by Basilicata et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684820">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823958"><div><strong>Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823958</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.">C5774185</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (NEDMLHB) is characterized by the onset of these features soon after birth or in early infancy. Affected individuals make almost no developmental progress, are unable to sit or walk, do not acquire speech, have poor visual fixation, and show poor overall growth associated with feeding problems. Some may have a progressive disease course, suggesting neurodegeneration. Additional more variable features include seizures, spasticity, and joint contractures. Brain imaging shows hypomyelination, thin corpus callosum, and cerebral and cerebellar atrophy (Wong et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823958">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abortive cerebellar ataxia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Basilicata-Akhtar syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44131" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galactosylceramide beta-galactosidase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383026" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 4</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1680067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukodystrophy, hypomyelinating, 18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647077" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823958" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe intellectual disability-progressive spastic diplegia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337496" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic X-linked intellectual disability Lubs type</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/32217663">Primary lateral sclerosis: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner MR,
|
||
Talbot K</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2020 Aug;20(4):262-269.
|
||
Epub 2020 Mar 26
|
||
doi: 10.1136/practneurol-2019-002300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32217663" target="_blank">32217663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24676440">Clinical features and management of hereditary spastic paraplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faber I,
|
||
Servelhere KR,
|
||
Martinez AR,
|
||
D'Abreu A,
|
||
Lopes-Cendes I,
|
||
França MC Jr</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2014 Mar;72(3):219-26.
|
||
doi: 10.1590/0004-282x20130248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24676440" target="_blank">24676440</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22753388">Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt C,
|
||
Quintáns B,
|
||
Ros R,
|
||
Ampuero I,
|
||
Yáñez Z,
|
||
Pascual SI,
|
||
de Yébenes JG,
|
||
Sobrido MJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2012 Sep;33(9):1315-23.
|
||
Epub 2012 Jul 16
|
||
doi: 10.1002/humu.22148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22753388" target="_blank">22753388</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20spasticity%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 (6)</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/37788157">Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinello C,
|
||
Panza E,
|
||
Orlacchio A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Proteomics</span>
|
||
2023 Jul-Dec;20(7-9):171-188.
|
||
Epub 2023 Oct 16
|
||
doi: 10.1080/14789450.2023.2260952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37788157" target="_blank">37788157</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37133535">Genetic characterization of primary lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Boer EMJ,
|
||
de Vries BS,
|
||
Pennings M,
|
||
Kamsteeg EJ,
|
||
Veldink JH,
|
||
van den Berg LH,
|
||
van Es MA</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Aug;270(8):3970-3980.
|
||
Epub 2023 May 3
|
||
doi: 10.1007/s00415-023-11746-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37133535" target="_blank">37133535</a><a href="/pmc/articles/PMC10345048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35970204">Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panza E,
|
||
Meyyazhagan A,
|
||
Orlacchio A</span><br />
|
||
<span class="medgenPMjournal">Exp Neurol</span>
|
||
2022 Nov;357:114203.
|
||
Epub 2022 Aug 13
|
||
doi: 10.1016/j.expneurol.2022.114203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35970204" target="_blank">35970204</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31377012">Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shribman S,
|
||
Reid E,
|
||
Crosby AH,
|
||
Houlden H,
|
||
Warner TT</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2019 Dec;18(12):1136-1146.
|
||
Epub 2019 Jul 31
|
||
doi: 10.1016/S1474-4422(19)30235-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31377012" target="_blank">31377012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25821002">Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milewska M,
|
||
Byrne PC</span><br />
|
||
<span class="medgenPMjournal">Cell Biol Int</span>
|
||
2015 Sep;39(9):1007-15.
|
||
Epub 2015 May 8
|
||
doi: 10.1002/cbin.10472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25821002" target="_blank">25821002</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spasticity%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 (111)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37133535">Genetic characterization of primary lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Boer EMJ,
|
||
de Vries BS,
|
||
Pennings M,
|
||
Kamsteeg EJ,
|
||
Veldink JH,
|
||
van den Berg LH,
|
||
van Es MA</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Aug;270(8):3970-3980.
|
||
Epub 2023 May 3
|
||
doi: 10.1007/s00415-023-11746-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37133535" target="_blank">37133535</a><a href="/pmc/articles/PMC10345048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35970204">Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panza E,
|
||
Meyyazhagan A,
|
||
Orlacchio A</span><br />
|
||
<span class="medgenPMjournal">Exp Neurol</span>
|
||
2022 Nov;357:114203.
|
||
Epub 2022 Aug 13
|
||
doi: 10.1016/j.expneurol.2022.114203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35970204" target="_blank">35970204</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32217663">Primary lateral sclerosis: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turner MR,
|
||
Talbot K</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2020 Aug;20(4):262-269.
|
||
Epub 2020 Mar 26
|
||
doi: 10.1136/practneurol-2019-002300.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32217663" target="_blank">32217663</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31377012">Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shribman S,
|
||
Reid E,
|
||
Crosby AH,
|
||
Houlden H,
|
||
Warner TT</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2019 Dec;18(12):1136-1146.
|
||
Epub 2019 Jul 31
|
||
doi: 10.1016/S1474-4422(19)30235-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31377012" target="_blank">31377012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31292381">Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/31292381" target="_blank">31292381</a><a href="/pmc/articles/PMC6875453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spasticity%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 (99)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/25287453">Umbilical cord blood transplantation to treat Pelizaeus-Merzbacher Disease in 2 young boys.</a></div>
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Wood S,
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<div class="nl"><a target="_blank" href="/pubmed/22735254">Chlorpyrifos-induced delayed myelopathy and pure motor neuropathy: a case report.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thivakaran T,
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Gamage R,
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Gunarathne KS,
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Gooneratne IK</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/22735254" target="_blank">22735254</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spasticity%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 (36)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38551087">Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models.</a></div>
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Fattorini G,
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<span class="bold">PMID: </span><a href="/pubmed/38551087" target="_blank">38551087</a><a href="/pmc/articles/PMC11449140" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37788157">Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Martinello C,
|
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Panza E,
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Orlacchio A</span><br />
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2023 Jul-Dec;20(7-9):171-188.
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Epub 2023 Oct 16
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doi: 10.1080/14789450.2023.2260952.
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||
<span class="bold">PMID: </span><a href="/pubmed/37788157" target="_blank">37788157</a></div>
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||
|
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<div class="nl"><a target="_blank" href="/pubmed/36868263">Expanding the Spectrum of NUBPL-Related Leukodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tonduti D,
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Zambon AA,
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Ghezzi D,
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Lamantea E,
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Izzo R,
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Parazzini C,
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Baldoli C,
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van der Knaap MS,
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Epub 2023 Mar 3
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<span class="bold">PMID: </span><a href="/pubmed/36868263" target="_blank">36868263</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35970204">Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Panza E,
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Meyyazhagan A,
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Orlacchio A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/35970204" target="_blank">35970204</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25821002">Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Milewska M,
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<span class="bold">PMID: </span><a href="/pubmed/25821002" target="_blank">25821002</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spasticity%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 (60)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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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/22015172">Intrathecal baclofen for progressive neurological disease in childhood: a systematic review of literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bonouvrié LA,
|
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van Schie PE,
|
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Becher JG,
|
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van Ouwerkerk WJ,
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Vermeulen RJ</span><br />
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Epub 2011 Oct 19
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<span class="bold">PMID: </span><a href="/pubmed/22015172" target="_blank">22015172</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20spasticity%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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