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<!--
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UID=392895
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ConceptID=C2673351
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Paucity of anterior horn motor neurons</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>392895</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:">C2673351</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><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:0007277">HP:0007277</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Paucity of anterior horn motor neurons</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868345" ref="tree=MeSH" title="MedGen record for Abnormal neuron morphology">Abnormal neuron morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871226" ref="tree=MeSH" title="MedGen record for Abnormal motor neuron morphology">Abnormal motor neuron morphology</a></span><ul><li><span class="matched_ds">Paucity of anterior horn motor neurons</span></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">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_344338"><div><strong>Lethal congenital contracture syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344338</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.">C1854664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108120), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); LCCS5 (615368), caused by mutation in the DNM2 gene (602378); LCCS6 (616248), caused by mutation in the ZBTB42 gene (613915); LCCS7 (616286), caused by mutation in the CNTNAP1 gene (602346); LCCS8 (616287), caused by mutation in the ADCY6 gene (600294); LCCS9 (616503), caused by mutation in the ADGRG6 gene (612243); LCCS10 (617022), caused by mutation in the NEK9 gene (609798); and LCCS11 (617194), caused by mutation in the GLDN gene (608603).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344338">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677784"><div><strong>Lethal arthrogryposis-anterior horn cell disease syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677784</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.">C5193016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017). Distinction from Lethal Congenital Contracture Syndrome 1 Biallelic mutation in the GLE1 gene can also cause LCCS1, which is lethal in utero. However, distinguishing between LCCS1 and CAAHD is controversial. Smith et al. (2017) suggested that differentiating between the 2 disorders has limited utility, and that they may represent a genotype/phenotype correlation rather than 2 different disease entities. In contrast, Said et al. (2017) concluded that LCCS1 represents a distinct clinical entity in which all affected individuals die prenatally and exhibit no fetal movements. Vuopala et al. (1995) differentiated CAAHD from LCCS1, noting that both are prevalent in Finland. LCCS1 is always fatal during the fetal period, presenting with severe hydrops and intrauterine growth retardation. In LCCS1, the spinal cord is macroscopically thinned because of an early reduction of the anterior horn and a paucity of anterior horn cells. The skeletal muscles are extremely hypoplastic, even difficult to locate. Infants with CAAHD survive longer than those with LCCS1, and when present, hydrops and intrauterine growth retardation are mild. The macroscopic findings of the central nervous system and skeletal muscles are closer to normal, although microscopic analysis also shows degeneration of anterior horn cells. In addition, birthplaces of ancestors of affected individuals do not show clustering in the northeast part of Finland, as is the case with LCCS1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1677784">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal arthrogryposis-anterior horn cell disease syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal congenital contracture syndrome 1</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/6185299">Studies on the human spontaneous electromyelogram (EMyeloG). II. Patients with peripheral nerve, root and spinal cord disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ertekin C,
|
||
Sarica Y,
|
||
Uçkardeşler L</span><br />
|
||
<span class="medgenPMjournal">Electroencephalogr Clin Neurophysiol</span>
|
||
1983 Jan;55(1):24-33.
|
||
doi: 10.1016/0013-4694(83)90143-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6185299" target="_blank">6185299</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paucity%20of%20anterior%20horn%20motor%20neurons%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20139405">Midbrain and spinal cord magnetic resonance imaging (MRI) changes in poliomyelitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Choudhary A,
|
||
Sharma S,
|
||
Sankhyan N,
|
||
Gulati S,
|
||
Kalra V,
|
||
Banerjee B,
|
||
Kumar A</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2010 Apr;25(4):497-9.
|
||
Epub 2010 Feb 5
|
||
doi: 10.1177/0883073809340918.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20139405" target="_blank">20139405</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16147849">Early fetal akinesia deformation sequence: a case report with unusual autoptic features.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Giordano G,
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<div class="nl"><a target="_blank" href="/pubmed/3577692">Infantile neurodegenerative disease with neuronal accumulation of phosphorylated neurofilaments.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wiley CA,
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Love S,
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||
<div class="nl"><a target="_blank" href="/pubmed/3993672">A lethal autosomal recessive syndrome of multiple congenital contractures.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Herva R,
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paucity%20of%20anterior%20horn%20motor%20neurons%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20558162">Increased neuronal Rab5 immunoreactive endosomes do not colocalize with TDP-43 in motor neuron disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Matej R,
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Botond G,
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László L,
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2010 Sep;225(1):133-9.
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||
<span class="bold">PMID: </span><a href="/pubmed/20558162" target="_blank">20558162</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6185299">Studies on the human spontaneous electromyelogram (EMyeloG). II. Patients with peripheral nerve, root and spinal cord disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ertekin C,
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Sarica Y,
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<span class="medgenPMjournal">Electroencephalogr Clin Neurophysiol</span>
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1983 Jan;55(1):24-33.
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||
<span class="bold">PMID: </span><a href="/pubmed/6185299" target="_blank">6185299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7295106">Primary lateral sclerosis: a case report.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Beal MF,
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<span class="medgenPMjournal">Arch Neurol</span>
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||
1981 Oct;38(10):630-3.
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||
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||
<span class="bold">PMID: </span><a href="/pubmed/7295106" target="_blank">7295106</a></div>
|
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