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<meta name="keywords" content="C0162671, disease or syndrome, juvenile myopathy, encephalopathy, lactic acidosis, stroke, melas, melas - mitochondrial encephalopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes, mitochondrial encephalomyopathy, lactic acidosis and stroke, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, mitochondrial myopathy, lactic acidosis, stroke-like episode, mt-co1, mt-co2, mt-co3, mt-cyb, mt-nd1, mt-nd5, mt-nd6, mt-tc, mt-tf, mt-tk, mt-tl1, mt-tq, mt-ts1, mt-ts2, mt-tv, mt-tw, myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke, syndrome, melas, 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="MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of affected individuals develop signs and symptoms of MELAS between ages two and 40 years. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures and/or dementia, muscle weakness and exercise intolerance, normal early psychomotor development, recurrent headaches, recurrent vomiting, hearing impairment, peripheral neuropathy, learning disability, and short stature. During the stroke-like episodes neuroimaging shows increased T2-weighted signal areas that do not correspond to the classic vascular distribution (hence the term &quot;stroke-like&quot;). Lactic acidemia is very common and muscle biopsies typically show ragged red fibers." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=56485
ConceptID=C0162671
-->
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1224/bin/mt-overview-Image001.gif" src-large="/books/NBK1224/bin/mt-overview-Image001.jpg" /></a><br /><a href="/books/NBK1224/figure/mt-overview.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">MELAS syndrome<span class="h1sub">(MELAS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56485</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.">C0162671</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>Juvenile myopathy, encephalopathy, lactic acidosis, stroke; MELAS; Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (39925003); Juvenile myopathy, encephalopathy, lactic acidosis, stroke (39925003); MELAS - mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (39925003)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_165802"><div><strong>Mitochondrial inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>165802</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.">C0887941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).</div></div>
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_165802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial inheritance</a><span> (Orphanet)</span></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></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">Genes (locations):<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="MT-CO1 - ID: 4512 - NCBI Gene" href="/gene/4512" class="medgenPMinfo">MT-CO1</a>; <a target="_blank" title="MT-CO2 - ID: 4513 - NCBI Gene" href="/gene/4513" class="medgenPMinfo">MT-CO2</a>; <a target="_blank" title="MT-CO3 - ID: 4514 - NCBI Gene" href="/gene/4514" class="medgenPMinfo">MT-CO3</a>; <a target="_blank" title="MT-CYB - ID: 4519 - NCBI Gene" href="/gene/4519" class="medgenPMinfo">MT-CYB</a>; <a target="_blank" title="MT-ND1 - ID: 4535 - NCBI Gene" href="/gene/4535" class="medgenPMinfo">MT-ND1</a>; <a target="_blank" title="MT-ND5 - ID: 4540 - NCBI Gene" href="/gene/4540" class="medgenPMinfo">MT-ND5</a>; <a target="_blank" title="MT-ND6 - ID: 4541 - NCBI Gene" href="/gene/4541" class="medgenPMinfo">MT-ND6</a>; <a target="_blank" title="MT-TC - ID: 4511 - NCBI Gene" href="/gene/4511" class="medgenPMinfo">MT-TC</a>; <a target="_blank" title="MT-TF - ID: 4558 - NCBI Gene" href="/gene/4558" class="medgenPMinfo">MT-TF</a>; <a target="_blank" title="MT-TK - ID: 4566 - NCBI Gene" href="/gene/4566" class="medgenPMinfo">MT-TK</a>; <a target="_blank" title="MT-TL1 - ID: 4567 - NCBI Gene" href="/gene/4567" class="medgenPMinfo">MT-TL1</a>; <a target="_blank" title="MT-TQ - ID: 4572 - NCBI Gene" href="/gene/4572" class="medgenPMinfo">MT-TQ</a>; <a target="_blank" title="MT-TS1 - ID: 4574 - NCBI Gene" href="/gene/4574" class="medgenPMinfo">MT-TS1</a>; <a target="_blank" title="MT-TS2 - ID: 4575 - NCBI Gene" href="/gene/4575" class="medgenPMinfo">MT-TS2</a>; <a target="_blank" title="MT-TV - ID: 4577 - NCBI Gene" href="/gene/4577" class="medgenPMinfo">MT-TV</a>; <a target="_blank" title="MT-TW - ID: 4578 - NCBI Gene" href="/gene/4578" class="medgenPMinfo">MT-TW</a></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010789" target="_blank">MONDO:0010789</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/540000" target="_blank">540000</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=550">ORPHA550</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_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of affected individuals develop signs and symptoms of MELAS between ages two and 40 years. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures and/or dementia, muscle weakness and exercise intolerance, normal early psychomotor development, recurrent headaches, recurrent vomiting, hearing impairment, peripheral neuropathy, learning disability, and short stature. During the stroke-like episodes neuroimaging shows increased T2-weighted signal areas that do not correspond to the classic vascular distribution (hence the term "stroke-like"). Lactic acidemia is very common and muscle biopsies typically show ragged red fibers. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</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 />MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988).&#13;
Other mitochondrial encephalomyopathies include Leigh syndrome (MILS; 500017), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000).  <a target="_blank" href="http://www.omim.org/entry/540000">http://www.omim.org/entry/540000</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).<br /><br />Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes">https://medlineplus.gov/genetics/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes</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_2039"><div><strong>Cardiac arrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2039</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.">C0003811</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2039">Feature record</a> | <a href="/medgen?term=%22Cardiac%20arrhythmia%22%5BClinical%20Features%5D%20OR%202039%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_12162"><div><strong>Wolff-Parkinson-White pattern</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12162</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.">C0043202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).\n\nThe heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. A specialized cluster of cells called the atrioventricular node conducts electrical impulses from the heart's upper chambers (the atria) to the lower chambers (the ventricles). Impulses move through the atrioventricular node during each heartbeat, stimulating the ventricles to contract slightly later than the atria.\n\nPeople with Wolff-Parkinson-White syndrome are born with an extra connection in the heart, called an accessory pathway, that allows electrical signals to bypass the atrioventricular node and move from the atria to the ventricles faster than usual. The accessory pathway may also transmit electrical impulses abnormally from the ventricles back to the atria. This extra connection can disrupt the coordinated movement of electrical signals through the heart, leading to an abnormally fast heartbeat (tachycardia) and other changes in heart rhythm. Resulting symptoms include dizziness, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, and fainting (syncope). In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. The most common arrhythmia associated with Wolff-Parkinson-White syndrome is called paroxysmal supraventricular tachycardia.\n\nComplications of Wolff-Parkinson-White syndrome can occur at any age, although some individuals born with an accessory pathway in the heart never experience any health problems associated with the condition.\n\nWolff-Parkinson-White syndrome often occurs with other structural abnormalities of the heart or underlying heart disease. The most common heart defect associated with the condition is Ebstein anomaly, which affects the valve that allows blood to flow from the right atrium to the right ventricle (the tricuspid valve). Additionally, the heart rhythm problems associated with Wolff-Parkinson-White syndrome can be a component of several other genetic syndromes, including hypokalemic periodic paralysis (a condition that causes episodes of extreme muscle weakness), Pompe disease (a disorder characterized by the storage of excess glycogen), Danon disease (a condition that weakens the heart and skeletal muscles and causes intellectual disability), and tuberous sclerosis complex (a condition that results in the growth of noncancerous tumors in many parts of the body).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12162">Feature record</a> | <a href="/medgen?term=%22Wolff-Parkinson-White%20pattern%22%5BClinical%20Features%5D%20OR%2012162%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57442"><div><strong>Left ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57442</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.">C0149721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Enlargement or increased size of the heart left ventricle.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57442">Feature record</a> | <a href="/medgen?term=%22Left%20ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057442%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_69237"><div><strong>Abnormal left ventricular function</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69237</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.">C0242698</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/69237">Feature record</a> | <a href="/medgen?term=%22Abnormal%20left%20ventricular%20function%22%5BClinical%20Features%5D%20OR%2069237%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_346558"><div><strong>Stroke-like episode</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346558</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.">C1857287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346558">Feature record</a> | <a href="/medgen?term=%22Stroke-like%20episode%22%5BClinical%20Features%5D%20OR%20346558%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_808205"><div><strong>Growth abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>808205</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.">C0262361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/808205">Feature record</a> | <a href="/medgen?term=%22Growth%20abnormality%22%5BClinical%20Features%5D%20OR%20808205%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_333228"><div><strong>Episodic vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333228</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.">C1838993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Paroxysmal, recurrent episodes of vomiting.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333228">Feature record</a> | <a href="/medgen?term=%22Episodic%20vomiting%22%5BClinical%20Features%5D%20OR%20333228%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_96788"><div><strong>Bilateral sensorineural hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96788</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.">C0452138</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A form of sensorineural hearing impairment that affects both ears.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96788">Feature record</a> | <a href="/medgen?term=%22Bilateral%20sensorineural%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%2096788%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_335894"><div><strong>Progressive sensorineural hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335894</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.">C1843156</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A progressive form of sensorineural hearing impairment.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335894">Feature record</a> | <a href="/medgen?term=%22Progressive%20sensorineural%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%20335894%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6783"><div><strong>Hemiparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6783</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.">C0018989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6783">Feature record</a> | <a href="/medgen?term=%22Hemiparesis%22%5BClinical%20Features%5D%20OR%206783%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39314"><div><strong>Encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39314</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.">C0085584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39314">Feature record</a> | <a href="/medgen?term=%22Encephalopathy%22%5BClinical%20Features%5D%20OR%2039314%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57451"><div><strong>Migraine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57451</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.">C0149931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57451">Feature record</a> | <a href="/medgen?term=%22Migraine%22%5BClinical%20Features%5D%20OR%2057451%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%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_10135"><div><strong>Myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10135</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.">C0026848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10135">Feature record</a> | <a href="/medgen?term=%22Myopathy%22%5BClinical%20Features%5D%20OR%2010135%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_56484"><div><strong>Inborn mitochondrial myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56484</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.">C0162670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56484">Feature record</a> | <a href="/medgen?term=%22Inborn%20mitochondrial%20myopathy%22%5BClinical%20Features%5D%20OR%2056484%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_477048"><div><strong>Ragged-red muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477048</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.">C3275417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477048">Feature record</a> | <a href="/medgen?term=%22Ragged-red%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20477048%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1717"><div><strong>Lactic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717</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.">C0001125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1717">Feature record</a> | <a href="/medgen?term=%22Lactic%20acidosis%22%5BClinical%20Features%5D%20OR%201717%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8350"><div><strong>Diabetes mellitus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8350</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.">C0011849</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A group of abnormalities characterized by hyperglycemia and glucose intolerance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8350">Feature record</a> | <a href="/medgen?term=%22Diabetes%20mellitus%22%5BClinical%20Features%5D%20OR%208350%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3202"><div><strong>Developmental cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3202</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.">C0009691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3202">Feature record</a> | <a href="/medgen?term=%22Developmental%20cataract%22%5BClinical%20Features%5D%20OR%203202%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9193"><div><strong>Hemianopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9193</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.">C0018979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Partial or complete loss of vision in one half of the visual field of one or both eyes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9193">Feature record</a> | <a href="/medgen?term=%22Hemianopia%22%5BClinical%20Features%5D%20OR%209193%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_45205"><div><strong>Ophthalmoplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45205</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.">C0029089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Paralysis of one or more extraocular muscles that are responsible for eye movements.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45205">Feature record</a> | <a href="/medgen?term=%22Ophthalmoplegia%22%5BClinical%20Features%5D%20OR%2045205%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_890568"><div><strong>Cerebral visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>890568</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.">C4048268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/890568">Feature record</a> | <a href="/medgen?term=%22Cerebral%20visual%20impairment%22%5BClinical%20Features%5D%20OR%20890568%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_8350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diabetes mellitus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1717" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lactic acidosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal left ventricular function</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac arrhythmia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57442" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left ventricular hypertrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stroke-like episode</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolff-Parkinson-White pattern</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic vomiting</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_890568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral visual impairment</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental cataract</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9193" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemianopia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ophthalmoplegia</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_56484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inborn mitochondrial myopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10135" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_477048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ragged-red muscle fibers</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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</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_39314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemiparesis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96788" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral sensorineural hearing impairment</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive sensorineural hearing impairment</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_808205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth abnormality</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><li><a href="#tabORDO">Orphanet</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=C0162671[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=56485">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=56485" target="_blank" href="/omim/516000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1224%20OR%20NBK1233)%20AND%20gene%5Bbook%5D&amp;showtype=onebook" ref="ncbi_uid=56485">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=56485" ref="ncbi_uid=56485">V</a></span></span><span class="TLline">MELAS syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><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/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="matched_ds">MELAS syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=63&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">MELAS syndrome</span> in Orphanet.</div></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/34776083">Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lioncino M,
Monda E,
Caiazza M,
Fusco A,
Cirillo A,
Dongiglio F,
Simonelli V,
Sampaolo S,
Ruggiero L,
Scarano G,
Pota V,
Frisso G,
Mazzaccara C,
D'Amati G,
Nigro G,
Russo MG,
Wahbi K,
Limongelli G</span><br />
<span class="medgenPMjournal">Heart Fail Clin</span>
2022 Jan;18(1):51-60.
Epub 2021 Oct 26
doi: 10.1016/j.hfc.2021.07.003.
<span class="bold">PMID: </span><a href="/pubmed/34776083" target="_blank">34776083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33105273">Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barcelos I,
Shadiack E,
Ganetzky RD,
Falk MJ</span><br />
<span class="medgenPMjournal">Curr Opin Pediatr</span>
2020 Dec;32(6):707-718.
doi: 10.1097/MOP.0000000000000954.
<span class="bold">PMID: </span><a href="/pubmed/33105273" target="_blank">33105273</a><a href="/pmc/articles/PMC7774245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
Adesina AM,
Jones J,
Scaglia F</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2015 Sep-Oct;116(1-2):4-12.
Epub 2015 Jun 15
doi: 10.1016/j.ymgme.2015.06.004.
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22melas%20syndrome%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 (12)</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/37024306">MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alves CAPF,
Zandifar A,
Peterson JT,
Tara SZ,
Ganetzky R,
Viaene AN,
Andronikou S,
Falk MJ,
Vossough A,
Goldstein AC</span><br />
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
2023 May;44(5):602-610.
Epub 2023 Apr 6
doi: 10.3174/ajnr.A7837.
<span class="bold">PMID: </span><a href="/pubmed/37024306" target="_blank">37024306</a><a href="/pmc/articles/PMC10171385" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34776083">Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lioncino M,
Monda E,
Caiazza M,
Fusco A,
Cirillo A,
Dongiglio F,
Simonelli V,
Sampaolo S,
Ruggiero L,
Scarano G,
Pota V,
Frisso G,
Mazzaccara C,
D'Amati G,
Nigro G,
Russo MG,
Wahbi K,
Limongelli G</span><br />
<span class="medgenPMjournal">Heart Fail Clin</span>
2022 Jan;18(1):51-60.
Epub 2021 Oct 26
doi: 10.1016/j.hfc.2021.07.003.
<span class="bold">PMID: </span><a href="/pubmed/34776083" target="_blank">34776083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33105273">Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barcelos I,
Shadiack E,
Ganetzky RD,
Falk MJ</span><br />
<span class="medgenPMjournal">Curr Opin Pediatr</span>
2020 Dec;32(6):707-718.
doi: 10.1097/MOP.0000000000000954.
<span class="bold">PMID: </span><a href="/pubmed/33105273" target="_blank">33105273</a><a href="/pmc/articles/PMC7774245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32606088">Headache in cerebrovascular diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lu J,
Liu W,
Zhao H</span><br />
<span class="medgenPMjournal">Stroke Vasc Neurol</span>
2020 Jun;5(2):205-210.
Epub 2020 Mar 26
doi: 10.1136/svn-2020-000333.
<span class="bold">PMID: </span><a href="/pubmed/32606088" target="_blank">32606088</a><a href="/pmc/articles/PMC7337362" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22266889">The genetics of mitochondrial disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Davis RL,
Sue CM</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2011 Nov;31(5):519-30.
Epub 2012 Jan 21
doi: 10.1055/s-0031-1299790.
<span class="bold">PMID: </span><a href="/pubmed/22266889" target="_blank">22266889</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MELAS%20syndrome%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 (257)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37024306">MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alves CAPF,
Zandifar A,
Peterson JT,
Tara SZ,
Ganetzky R,
Viaene AN,
Andronikou S,
Falk MJ,
Vossough A,
Goldstein AC</span><br />
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
2023 May;44(5):602-610.
Epub 2023 Apr 6
doi: 10.3174/ajnr.A7837.
<span class="bold">PMID: </span><a href="/pubmed/37024306" target="_blank">37024306</a><a href="/pmc/articles/PMC10171385" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34118021">Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tetsuka S,
Ogawa T,
Hashimoto R,
Kato H</span><br />
<span class="medgenPMjournal">Metab Brain Dis</span>
2021 Dec;36(8):2181-2193.
Epub 2021 Jun 12
doi: 10.1007/s11011-021-00772-x.
<span class="bold">PMID: </span><a href="/pubmed/34118021" target="_blank">34118021</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27477183">Imaging of MELAS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Malhotra K,
Liebeskind DS</span><br />
<span class="medgenPMjournal">Curr Pain Headache Rep</span>
2016 Sep;20(9):54.
doi: 10.1007/s11916-016-0583-7.
<span class="bold">PMID: </span><a href="/pubmed/27477183" target="_blank">27477183</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19584620">Mitochondrial disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Edmond JC</span><br />
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
2009 Summer;49(3):27-33.
doi: 10.1097/IIO.0b013e3181a8de58.
<span class="bold">PMID: </span><a href="/pubmed/19584620" target="_blank">19584620</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7483605">MELAS syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Koga SJ,
Hodges M,
Markin C,
Gorman P</span><br />
<span class="medgenPMjournal">West J Med</span>
1995 Oct;163(4):379-81.
<span class="bold">PMID: </span><a href="/pubmed/7483605" target="_blank">7483605</a><a href="/pmc/articles/PMC1303144" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MELAS%20syndrome%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 (582)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38612442">Arginine Supplementation in MELAS Syndrome: What Do We Know about the Mechanisms?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barros CDS,
Coutinho A,
Tengan CH</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Mar 24;25(7)
doi: 10.3390/ijms25073629.
<span class="bold">PMID: </span><a href="/pubmed/38612442" target="_blank">38612442</a><a href="/pmc/articles/PMC11011289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38269492">Metformin adverse event profile: a pharmacovigilance study based on the FDA Adverse Event Reporting System (FAERS) from 2004 to 2022.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Du Y,
Zhu J,
Guo Z,
Wang Z,
Wang Y,
Hu M,
Zhang L,
Yang Y,
Wang J,
Huang Y,
Huang P,
Chen M,
Chen B,
Yang C</span><br />
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
2024 Jan-Jun;17(2):189-201.
Epub 2024 Jan 29
doi: 10.1080/17512433.2024.2306223.
<span class="bold">PMID: </span><a href="/pubmed/38269492" target="_blank">38269492</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33463549">Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma R,
Reinstadler B,
Engelstad K,
Skinner OS,
Stackowitz E,
Haller RG,
Clish CB,
Pierce K,
Walker MA,
Fryer R,
Oglesbee D,
Mao X,
Shungu DC,
Khatri A,
Hirano M,
De Vivo DC,
Mootha VK</span><br />
<span class="medgenPMjournal">J Clin Invest</span>
2021 Jan 19;131(2)
doi: 10.1172/JCI136055.
<span class="bold">PMID: </span><a href="/pubmed/33463549" target="_blank">33463549</a><a href="/pmc/articles/PMC7810486" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29980632">Emerging therapies for mitochondrial diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hirano M,
Emmanuele V,
Quinzii CM</span><br />
<span class="medgenPMjournal">Essays Biochem</span>
2018 Jul 20;62(3):467-481.
doi: 10.1042/EBC20170114.
<span class="bold">PMID: </span><a href="/pubmed/29980632" target="_blank">29980632</a><a href="/pmc/articles/PMC6104515" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
Adesina AM,
Jones J,
Scaglia F</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2015 Sep-Oct;116(1-2):4-12.
Epub 2015 Jun 15
doi: 10.1016/j.ymgme.2015.06.004.
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MELAS%20syndrome%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 (141)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37635512">Infraclavicular Catheter in MELAS Syndrome for Analgesic Purposes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Onay M,
Kiremitçi TT,
Kayhan GE,
Algın Dİ,
Güleç MS</span><br />
<span class="medgenPMjournal">Neurol India</span>
2023 Jul-Aug;71(4):764-766.
doi: 10.4103/0028-3886.383869.
<span class="bold">PMID: </span><a href="/pubmed/37635512" target="_blank">37635512</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37024306">MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alves CAPF,
Zandifar A,
Peterson JT,
Tara SZ,
Ganetzky R,
Viaene AN,
Andronikou S,
Falk MJ,
Vossough A,
Goldstein AC</span><br />
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
2023 May;44(5):602-610.
Epub 2023 Apr 6
doi: 10.3174/ajnr.A7837.
<span class="bold">PMID: </span><a href="/pubmed/37024306" target="_blank">37024306</a><a href="/pmc/articles/PMC10171385" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36813321">Stroke-like episodes in adult mitochondrial disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ng YS,
Gorman GS</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2023;194:65-78.
doi: 10.1016/B978-0-12-821751-1.00005-1.
<span class="bold">PMID: </span><a href="/pubmed/36813321" target="_blank">36813321</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32606088">Headache in cerebrovascular diseases.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lu J,
Liu W,
Zhao H</span><br />
<span class="medgenPMjournal">Stroke Vasc Neurol</span>
2020 Jun;5(2):205-210.
Epub 2020 Mar 26
doi: 10.1136/svn-2020-000333.
<span class="bold">PMID: </span><a href="/pubmed/32606088" target="_blank">32606088</a><a href="/pmc/articles/PMC7337362" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27477183">Imaging of MELAS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Malhotra K,
Liebeskind DS</span><br />
<span class="medgenPMjournal">Curr Pain Headache Rep</span>
2016 Sep;20(9):54.
doi: 10.1007/s11916-016-0583-7.
<span class="bold">PMID: </span><a href="/pubmed/27477183" target="_blank">27477183</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MELAS%20syndrome%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 (183)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38635773">Mitochondrial tRNA pseudouridylation governs erythropoiesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang B,
Shi D,
Yang S,
Lian Y,
Li H,
Cao M,
He Y,
Zhang L,
Qiu C,
Liu T,
Wen W,
Ma Y,
Shi L,
Cheng T,
Shi L,
Yuan W,
Chu Y,
Shi J</span><br />
<span class="medgenPMjournal">Blood</span>
2024 Aug 8;144(6):657-671.
doi: 10.1182/blood.2023022004.
<span class="bold">PMID: </span><a href="/pubmed/38635773" target="_blank">38635773</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36813321">Stroke-like episodes in adult mitochondrial disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ng YS,
Gorman GS</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2023;194:65-78.
doi: 10.1016/B978-0-12-821751-1.00005-1.
<span class="bold">PMID: </span><a href="/pubmed/36813321" target="_blank">36813321</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34776083">Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lioncino M,
Monda E,
Caiazza M,
Fusco A,
Cirillo A,
Dongiglio F,
Simonelli V,
Sampaolo S,
Ruggiero L,
Scarano G,
Pota V,
Frisso G,
Mazzaccara C,
D'Amati G,
Nigro G,
Russo MG,
Wahbi K,
Limongelli G</span><br />
<span class="medgenPMjournal">Heart Fail Clin</span>
2022 Jan;18(1):51-60.
Epub 2021 Oct 26
doi: 10.1016/j.hfc.2021.07.003.
<span class="bold">PMID: </span><a href="/pubmed/34776083" target="_blank">34776083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
Adesina AM,
Jones J,
Scaglia F</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2015 Sep-Oct;116(1-2):4-12.
Epub 2015 Jun 15
doi: 10.1016/j.ymgme.2015.06.004.
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15038606">Mitochondrial disease: mutations and mechanisms.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McKenzie M,
Liolitsa D,
Hanna MG</span><br />
<span class="medgenPMjournal">Neurochem Res</span>
2004 Mar;29(3):589-600.
doi: 10.1023/b:nere.0000014829.42364.dd.
<span class="bold">PMID: </span><a href="/pubmed/15038606" target="_blank">15038606</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MELAS%20syndrome%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 (238)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/33596430">Major cerebral vessels involvement in patients with MELAS syndrome: Worth a scan? A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gramegna LL,
Cortesi I,
Mitolo M,
Evangelisti S,
Talozzi L,
Cirillo L,
Tonon C,
Lodi R</span><br />
<span class="medgenPMjournal">J Neuroradiol</span>
2021 Sep;48(5):359-366.
Epub 2021 Feb 15
doi: 10.1016/j.neurad.2021.02.002.
<span class="bold">PMID: </span><a href="/pubmed/33596430" target="_blank">33596430</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32088469">Metabolic stroke or stroke-like lesion: Peculiarities of a phenomenon.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
Aliyev R</span><br />
<span class="medgenPMjournal">J Neurol Sci</span>
2020 May 15;412:116726.
Epub 2020 Feb 7
doi: 10.1016/j.jns.2020.116726.
<span class="bold">PMID: </span><a href="/pubmed/32088469" target="_blank">32088469</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29466997">Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Di Stadio A,
Pegoraro V,
Giaretta L,
Dipietro L,
Marozzo R,
Angelini C</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2018 Feb 21;13(1):35.
doi: 10.1186/s13023-018-0770-1.
<span class="bold">PMID: </span><a href="/pubmed/29466997" target="_blank">29466997</a><a href="/pmc/articles/PMC5822652" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22MELAS%20syndrome%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 (3)</a></div></div>
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<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=C0162671%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
<li><a href="/gtr/tests?term=C0162671%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C0162671%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0162671%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
<li><a href="/gtr/tests?term=C0162671%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0162671%5bDISCUI%5d" target="_blank">See all (37)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=540000" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=550" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=MELAS%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22melas%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=516000%20516005%20516006%20516020%20516030%20516040%20516050%20590020%20590030%20590050%20590060%20590070%20590080%20590085%20590095%20590105" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4511[geneid]" target="_blank">View MT-TC variations in ClinVar</a></li><li><a href="/clinvar/?term=4512[geneid]" target="_blank">View MT-CO1 variations in ClinVar</a></li><li><a href="/clinvar/?term=4513[geneid]" target="_blank">View MT-CO2 variations in ClinVar</a></li><li><a href="/clinvar/?term=4514[geneid]" target="_blank">View MT-CO3 variations in ClinVar</a></li><li><a href="/clinvar/?term=4519[geneid]" target="_blank">View MT-CYB variations in ClinVar</a></li><li><a href="/clinvar/?term=4535[geneid]" target="_blank">View MT-ND1 variations in ClinVar</a></li><li><a href="/clinvar/?term=4540[geneid]" target="_blank">View MT-ND5 variations in ClinVar</a></li><li><a href="/clinvar/?term=4541[geneid]" target="_blank">View MT-ND6 variations in ClinVar</a></li><li><a href="/clinvar/?term=4558[geneid]" target="_blank">View MT-TF variations in ClinVar</a></li><li><a href="/clinvar/?term=4566[geneid]" target="_blank">View MT-TK variations in ClinVar</a></li><li><a href="/clinvar/?term=4567[geneid]" target="_blank">View MT-TL1 variations in ClinVar</a></li><li><a href="/clinvar/?term=4572[geneid]" target="_blank">View MT-TQ variations in ClinVar</a></li><li><a href="/clinvar/?term=4574[geneid]" target="_blank">View MT-TS1 variations in ClinVar</a></li><li><a href="/clinvar/?term=4575[geneid]" target="_blank">View MT-TS2 variations in ClinVar</a></li><li><a href="/clinvar/?term=4577[geneid]" target="_blank">View MT-TV variations in ClinVar</a></li><li><a href="/clinvar/?term=4578[geneid]" target="_blank">View MT-TW variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=540000" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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