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<meta name="keywords" content="C0268275, ab variant, ab variant gangliosidosis gm2, ab variant gm2 gangliosidosis, ab variant gm2-gangliosidoses, ab variant gm2-gangliosidosis, activator deficiencies, gm2, activator deficiencies, hexosaminidase, activator deficiency gm2 gangliosidosis, activator deficiency, gm2, activator deficiency, hexosaminidase, activator deficient tay sachs disease, activator-deficient tay-sachs disease, activator-deficient tay-sachs diseases, deficiencies, gm2 activator, deficiencies, hexosaminidase activator, deficiency disease, gm2 protein activator, deficiency, gm2 activator, deficiency, hexosaminidase activator, disease or syndrome, disease, activator-deficient tay-sachs, diseases, activator-deficient tay-sachs, gangliosidosis gm2, ab variant, gangliosidosis gm2, type ab, gm2 activator deficiencies, gm2 activator deficiency, gm2 activator deficiency disease, gm2 gangliosidosis, ab variant, gm2 gangliosidosis, type ab, gm2 protein activator deficiency disease, gm2-gangliosidoses, ab variant, gm2-gangliosidosis, ab variant, gm2a, gm&gt;2&lt; gangliosidosis, type ab, hexosaminidase activator deficiencies, hexosaminidase activator deficiency, hexosaminidase activator protein deficiency disease, tay sachs disease, ab variant, tay-sachs disease ab variant, tay-sachs disease, ab variant, tay-sachs disease, activator-deficient, tay-sachs disease, variant ab, tay-sachs diseases, activator-deficient, variant gm2-gangliosidoses, ab, variant gm2-gangliosidosis, ab, 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="Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Tay-Sachs disease, variant AB (Concept Id: C0268275)
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Tay-Sachs disease, variant AB</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78657</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:">C0268275</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>GM2 Activator Deficiency; Gm2-gangliosidosis, ab variant</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Tay-Sachs disease, variant AB (71253000); Hexosaminidase activator deficiency (71253000); GM&gt;2&lt; gangliosidosis, type AB (71253000); GM2 activator deficiency (71253000); AB variant (71253000)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="GM2A - ID: 2760 - NCBI Gene" href="/gene/2760" class="medgenPMinfo">GM2A</a> (5q33.1)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010099" target="_blank">MONDO:0010099</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/272750" target="_blank">272750</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=309246">ORPHA309246</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK583219" target="_blank">GM2 Activator Deficiency</a></div><div>Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Summary" target="NBK583219">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Diagnosis" target="NBK583219">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Clinical_Characteristics" target="NBK583219">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Genetically_Related_Allelic_Dis" target="NBK583219">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Differential_Diagnosis" target="NBK583219">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Management" target="NBK583219">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Genetic_Counseling" target="NBK583219">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Resources" target="NBK583219">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Molecular_Genetics" target="NBK583219">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.Chapter_Notes" target="NBK583219">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK583219#gm2a-def.References" target="NBK583219">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Changrui Xiao  |  Camilo Toro  |  Cyndi Tifft   <a href="/books/NBK583219" target="NBK583219" title="NCBI Bookshelf: GM2 Activator Deficiency">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />The GM2-gangliosidoses are a group of disorders caused by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes, mainly of neuronal cells. GM2-gangliosidosis AB variant is characterized by normal hexosaminidase A (HEXA; 606869) and hexosaminidase B (HEXB; 606873) but the inability to form a functional GM2 activator complex. The clinical and biochemical phenotype of the AB variant is very similar to that of classic Tay-Sachs disease (see 272800) (Gravel et al., 2001).  <a target="_blank" href="http://www.omim.org/entry/272750">http://www.omim.org/entry/272750</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant) is a rare inherited disorder that causes progressive brain injury.   <br /><br />Most individuals with GM2 activator deficiency have the acute infantile form of the disease.  Signs and symptoms of acute infantile GM2 activator deficiency typically appear between the ages of 4 and 12 months, when development slows and the muscles used for movement weaken. Infants with acute infantile GM2 activator deficiency stop achieving normal developmental milestones and eventually lose previously acquired skills such as turning over, sitting, and crawling. These infants also develop an exaggerated startle reaction to loud noises. Over time, infants with acute infantile GM2 activator deficiency typically experience seizures, vision loss, and intellectual disabilites. They eventually become unable to respond to their environment. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of the infantile form of this disorder. Infants with acute infantile GM2 activator deficiency may survive into early childhood.<br /><br />Some people with GM2 activator deficiency may develop milder and more variable signs and symptoms later in life. Due to the rarity of this condition, the full spectrum of the late-onset presentation has not been clearly defined.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/gm2-activator-deficiency">https://medlineplus.gov/genetics/condition/gm2-activator-deficiency</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_3420"><div><strong>Chorea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3420</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.">C0008489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3420">Feature record</a> | <a href="/medgen?term=%22Chorea%22%5BClinical%20Features%5D%20OR%203420%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_17999"><div><strong>Neurodegeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>17999</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.">C0027746</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Progressive loss of neural cells and tissue.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/17999">Feature record</a> | <a href="/medgen?term=%22Neurodegeneration%22%5BClinical%20Features%5D%20OR%2017999%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_20497"><div><strong>Hyperacusis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20497</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.">C0034880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Over-sensitivity to certain frequency ranges of sound.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/20497">Feature record</a> | <a href="/medgen?term=%22Hyperacusis%22%5BClinical%20Features%5D%20OR%2020497%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39083"><div><strong>Apathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39083</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.">C0085632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39083">Feature record</a> | <a href="/medgen?term=%22Apathy%22%5BClinical%20Features%5D%20OR%2039083%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_68582"><div><strong>Abnormal pyramidal sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68582</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.">C0234132</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Functional neurological abnormalities related to dysfunction of the pyramidal tract.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/68582">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pyramidal%20sign%22%5BClinical%20Features%5D%20OR%2068582%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_105510"><div><strong>Paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105510</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.">C0522224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/105510">Feature record</a> | <a href="/medgen?term=%22Paralysis%22%5BClinical%20Features%5D%20OR%20105510%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107445"><div><strong>Loss of speech</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107445</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.">C0542223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107445">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20speech%22%5BClinical%20Features%5D%20OR%20107445%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_658719"><div><strong>Spastic tetraparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>658719</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.">C0575059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spastic weakness affecting all four limbs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/658719">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraparesis%22%5BClinical%20Features%5D%20OR%20658719%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_329357"><div><strong>Exaggerated startle response</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>329357</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.">C1740801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/329357">Feature record</a> | <a href="/medgen?term=%22Exaggerated%20startle%20response%22%5BClinical%20Features%5D%20OR%20329357%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_333065"><div><strong>Primitive reflex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333065</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.">C1838319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333065">Feature record</a> | <a href="/medgen?term=%22Primitive%20reflex%22%5BClinical%20Features%5D%20OR%20333065%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1385980"><div><strong>Myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385980</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.">C4317123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A myoclonic seizure is a type of motor seizure characterized by sudden, brief (&lt;100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1385980">Feature record</a> | <a href="/medgen?term=%22Myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%201385980%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</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.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_322809"><div><strong>Poor head control</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322809</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.">C1836038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/322809">Feature record</a> | <a href="/medgen?term=%22Poor%20head%20control%22%5BClinical%20Features%5D%20OR%20322809%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</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.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_751786"><div><strong>Aspiration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>751786</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.">C2712334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Inspiration of a foreign object into the airway.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/751786">Feature record</a> | <a href="/medgen?term=%22Aspiration%22%5BClinical%20Features%5D%20OR%20751786%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_341335"><div><strong>GM2-ganglioside accumulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341335</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.">C1848920</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Cellular accumulation of GM2 gangliosides.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341335">Feature record</a> | <a href="/medgen?term=%22GM2-ganglioside%20accumulation%22%5BClinical%20Features%5D%20OR%20341335%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_99138"><div><strong>Blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99138</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.">C0456909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99138">Feature record</a> | <a href="/medgen?term=%22Blindness%22%5BClinical%20Features%5D%20OR%2099138%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GM2-ganglioside accumulation</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blindness</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor head control</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68582" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pyramidal sign</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_329357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exaggerated startle response</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperacusis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of speech</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1385980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonic seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_17999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paralysis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primitive reflex</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_658719" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraparesis</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_751786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aspiration</a></span></li></ul></li></ul></div></div>
</div>
<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=C0268275[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=78657">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78657" target="_blank" href="/omim/272750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK583219/" ref="ncbi_uid=78657">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=78657" ref="ncbi_uid=78657">V</a></span></span><span class="TLline">Tay-Sachs disease, variant AB</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/57587" ref="tree=MeSH" title="MedGen record for Inherited lipid metabolism disorder">Inherited lipid metabolism disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52453" ref="tree=MeSH" title="MedGen record for Sphingolipidosis">Sphingolipidosis</a></span><ul><li><span class="TLline"><a href="/medgen/42149" ref="tree=MeSH" title="MedGen record for Gangliosidosis">Gangliosidosis</a></span><ul><li><span class="TLline"><a href="/medgen/78656" ref="tree=MeSH" title="MedGen record for GM2 gangliosidosis">GM2 gangliosidosis</a></span><ul><li><span class="matched_ds">Tay-Sachs disease, variant AB</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/37834060">Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vyas M,
Deschenes NM,
Osmon KJL,
Chen Z,
Ahmad I,
Kot S,
Thompson P,
Richmond C,
Gray SJ,
Walia JS</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2023 Sep 27;24(19)
doi: 10.3390/ijms241914611.
<span class="bold">PMID: </span><a href="/pubmed/37834060" target="_blank">37834060</a><a href="/pmc/articles/PMC10572999" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36835039">Gene Therapy of Sphingolipid Metabolic Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shaimardanova AA,
Solovyeva VV,
Issa SS,
Rizvanov AA</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2023 Feb 11;24(4)
doi: 10.3390/ijms24043627.
<span class="bold">PMID: </span><a href="/pubmed/36835039" target="_blank">36835039</a><a href="/pmc/articles/PMC9964151" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36709536">Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Blondel A,
Kraoua I,
Marcelino C,
Khrouf W,
Schlemmer D,
Ganne B,
Caillaud C,
Fernández-Eulate G,
Turki IBY,
Dauriat B,
Bonnefont-Rousselot D,
Nadjar Y,
Lamari F</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2023 Feb;138(2):106983.
Epub 2022 Dec 26
doi: 10.1016/j.ymgme.2022.106983.
<span class="bold">PMID: </span><a href="/pubmed/36709536" target="_blank">36709536</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32867370">GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leal AF,
Benincore-Flórez E,
Solano-Galarza D,
Garzón Jaramillo RG,
Echeverri-Peña OY,
Suarez DA,
Alméciga-Díaz CJ,
Espejo-Mojica AJ</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2020 Aug 27;21(17)
doi: 10.3390/ijms21176213.
<span class="bold">PMID: </span><a href="/pubmed/32867370" target="_blank">32867370</a><a href="/pmc/articles/PMC7503724" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/116955">Biochemistry and genetics of gangliosidoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sandhoff K,
Christomanou H</span><br />
<span class="medgenPMjournal">Hum Genet</span>
1979;50(2):107-43.
doi: 10.1007/BF00390234.
<span class="bold">PMID: </span><a href="/pubmed/116955" target="_blank">116955</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tay-Sachs%20disease%2C%20variant%20AB%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 (14)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36709536">Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Blondel A,
Kraoua I,
Marcelino C,
Khrouf W,
Schlemmer D,
Ganne B,
Caillaud C,
Fernández-Eulate G,
Turki IBY,
Dauriat B,
Bonnefont-Rousselot D,
Nadjar Y,
Lamari F</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2023 Feb;138(2):106983.
Epub 2022 Dec 26
doi: 10.1016/j.ymgme.2022.106983.
<span class="bold">PMID: </span><a href="/pubmed/36709536" target="_blank">36709536</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34554397">Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abtahi R,
Karimzadeh P,
Rezayi A,
Salehpour S,
Akbarzadeh D,
Tonekaboni SH,
Emameh RZ,
Houshmand M</span><br />
<span class="medgenPMjournal">J Mol Neurosci</span>
2022 Mar;72(3):555-564.
Epub 2021 Sep 23
doi: 10.1007/s12031-021-01907-6.
<span class="bold">PMID: </span><a href="/pubmed/34554397" target="_blank">34554397</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23010210">Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sobek AK,
Evers C,
Dekomien G</span><br />
<span class="medgenPMjournal">Mol Cell Probes</span>
2013 Feb;27(1):32-7.
Epub 2012 Aug 27
doi: 10.1016/j.mcp.2012.08.007.
<span class="bold">PMID: </span><a href="/pubmed/23010210" target="_blank">23010210</a></div>
<div class="nl"><a target="_blank" href="/pubmed/116955">Biochemistry and genetics of gangliosidoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sandhoff K,
Christomanou H</span><br />
<span class="medgenPMjournal">Hum Genet</span>
1979;50(2):107-43.
doi: 10.1007/BF00390234.
<span class="bold">PMID: </span><a href="/pubmed/116955" target="_blank">116955</a></div>
<div class="nl"><a target="_blank" href="/pubmed/110503">Myoclonus and the electroencephalogram, a review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niedermeyer E,
Fineyre F,
Riley T,
Bird B</span><br />
<span class="medgenPMjournal">Clin Electroencephalogr</span>
1979 Apr;10(2):75-95.
doi: 10.1177/155005947901000206.
<span class="bold">PMID: </span><a href="/pubmed/110503" target="_blank">110503</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tay-Sachs%20disease%2C%20variant%20AB%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 (17)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32867370">GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leal AF,
Benincore-Flórez E,
Solano-Galarza D,
Garzón Jaramillo RG,
Echeverri-Peña OY,
Suarez DA,
Alméciga-Díaz CJ,
Espejo-Mojica AJ</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2020 Aug 27;21(17)
doi: 10.3390/ijms21176213.
<span class="bold">PMID: </span><a href="/pubmed/32867370" target="_blank">32867370</a><a href="/pmc/articles/PMC7503724" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17196574">Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsuji D,
Higashine Y,
Matsuoka K,
Sakuraba H,
Itoh K</span><br />
<span class="medgenPMjournal">Clin Chim Acta</span>
2007 Mar;378(1-2):38-41.
Epub 2006 Oct 24
doi: 10.1016/j.cca.2006.10.010.
<span class="bold">PMID: </span><a href="/pubmed/17196574" target="_blank">17196574</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tay-Sachs%20disease%2C%20variant%20AB%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36709536">Plasma G(M2) ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Blondel A,
Kraoua I,
Marcelino C,
Khrouf W,
Schlemmer D,
Ganne B,
Caillaud C,
Fernández-Eulate G,
Turki IBY,
Dauriat B,
Bonnefont-Rousselot D,
Nadjar Y,
Lamari F</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2023 Feb;138(2):106983.
Epub 2022 Dec 26
doi: 10.1016/j.ymgme.2022.106983.
<span class="bold">PMID: </span><a href="/pubmed/36709536" target="_blank">36709536</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23483939">In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sinici I,
Yonekawa S,
Tkachyova I,
Gray SJ,
Samulski RJ,
Wakarchuk W,
Mark BL,
Mahuran DJ</span><br />
<span class="medgenPMjournal">PLoS One</span>
2013;8(3):e57908.
Epub 2013 Mar 4
doi: 10.1371/journal.pone.0057908.
<span class="bold">PMID: </span><a href="/pubmed/23483939" target="_blank">23483939</a><a href="/pmc/articles/PMC3587417" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17015493">The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maegawa GH,
Stockley T,
Tropak M,
Banwell B,
Blaser S,
Kok F,
Giugliani R,
Mahuran D,
Clarke JT</span><br />
<span class="medgenPMjournal">Pediatrics</span>
2006 Nov;118(5):e1550-62.
Epub 2006 Oct 2
doi: 10.1542/peds.2006-0588.
<span class="bold">PMID: </span><a href="/pubmed/17015493" target="_blank">17015493</a><a href="/pmc/articles/PMC2910078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9728335">Glycosphingolipid degradation and animal models of GM2-gangliosidoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kolter T,
Sandhoff K</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1998 Aug;21(5):548-63.
doi: 10.1023/a:1005419122018.
<span class="bold">PMID: </span><a href="/pubmed/9728335" target="_blank">9728335</a></div>
<div class="nl"><a target="_blank" href="/pubmed/824017">Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Purpura DP,
Suzuki K</span><br />
<span class="medgenPMjournal">Brain Res</span>
1976 Oct 29;116(1):1-21.
doi: 10.1016/0006-8993(76)90245-6.
<span class="bold">PMID: </span><a href="/pubmed/824017" target="_blank">824017</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tay-Sachs%20disease%2C%20variant%20AB%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37298170">Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deschenes NM,
Cheng C,
Ryckman AE,
Quinville BM,
Khanal P,
Mitchell M,
Chen Z,
Sangrar W,
Gray SJ,
Walia JS</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2023 May 24;24(11)
doi: 10.3390/ijms24119217.
<span class="bold">PMID: </span><a href="/pubmed/37298170" target="_blank">37298170</a><a href="/pmc/articles/PMC10253223" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36142595">CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leal AF,
Cifuentes J,
Quezada V,
Benincore-Flórez E,
Cruz JC,
Reyes LH,
Espejo-Mojica AJ,
Alméciga-Díaz CJ</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Sep 14;23(18)
doi: 10.3390/ijms231810672.
<span class="bold">PMID: </span><a href="/pubmed/36142595" target="_blank">36142595</a><a href="/pmc/articles/PMC9505638" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23010210">Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sobek AK,
Evers C,
Dekomien G</span><br />
<span class="medgenPMjournal">Mol Cell Probes</span>
2013 Feb;27(1):32-7.
Epub 2012 Aug 27
doi: 10.1016/j.mcp.2012.08.007.
<span class="bold">PMID: </span><a href="/pubmed/23010210" target="_blank">23010210</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17015493">The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maegawa GH,
Stockley T,
Tropak M,
Banwell B,
Blaser S,
Kok F,
Giugliani R,
Mahuran D,
Clarke JT</span><br />
<span class="medgenPMjournal">Pediatrics</span>
2006 Nov;118(5):e1550-62.
Epub 2006 Oct 2
doi: 10.1542/peds.2006-0588.
<span class="bold">PMID: </span><a href="/pubmed/17015493" target="_blank">17015493</a><a href="/pmc/articles/PMC2910078" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/116955">Biochemistry and genetics of gangliosidoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sandhoff K,
Christomanou H</span><br />
<span class="medgenPMjournal">Hum Genet</span>
1979;50(2):107-43.
doi: 10.1007/BF00390234.
<span class="bold">PMID: </span><a href="/pubmed/116955" target="_blank">116955</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tay-Sachs%20disease%2C%20variant%20AB%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 (14)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268275%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (2)</a></li>
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<li><a href="/gtr/tests?term=C0268275%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C0268275%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (26)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268275%5bDISCUI%5d" target="_blank">See all (33)</a></total></li>
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