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<meta name="keywords" content="C0878677, antopol disease, cardiomyopathies, glycogen storage, cardiomyopathy, glycogen storage, danon disease, danon disease, x-linked dominant, disease or syndrome, disease, antopol, glycogen storage cardiomyopathies, glycogen storage cardiomyopathy, glycogen storage disease due to lamp-2 deficiency, glycogen storage disease due to lysosomal associated membrane protein 2 deficiency, glycogen storage disease iib, glycogen storage disease limited to the heart, glycogen storage disease type 2b, glycogen storage disease type 2b (formerly), glycogen storage disease type iib, glycogenosis due to lamp-2 deficiency, gsd due to lamp-2 deficiency, gsd iib, gsd iib, formerly, gsd2b (formerly), gsd2b, formerly, lamp2, lamp2 lysosomal glycogen storage disease, lysosomal glycogen storage disease caused by mutation in lamp2, lysosomal glycogen storage disease with normal acid maltase, lysosomal glycogen storage disease with normal acid maltase activity, lysosomal glycogen storage disease without acid maltase deficiency, lysosomal glycogen storage disease without acid maltase deficiency (formerly), lysosomal glycogen storage disease without acid maltase deficiency, formerly, pseudoglycogenosis 2, pseudoglycogenosis 2s, pseudoglycogenosis ii, pseudoglycogenosis iis, vacuolar cardiomyopathy and myopathy x-linked, vacuolar cardiomyopathy and myopathy, x linked, vacuolar cardiomyopathy and myopathy, x-linked, x linked vacuolar cardiomyopathy and myopathy, x-linked vacuolar cardiomyopathy and myopathy, 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="Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are typically more severely affected than females. Males usually present with childhood onset concentric hypertrophic cardiomyopathy that is progressive and often requires heart transplantation. Rarely, hypertrophic cardiomyopathy can evolve to resemble dilated cardiomyopathy. Most affected males also have cardiac conduction abnormalities. Skeletal muscle weakness may lead to delayed acquisition of motor milestones. Learning disability and intellectual disability, most often in the mild range, are common. Additionally, affected males can develop retinopathy with subsequent visual impairment. The clinical features in females are broader and more variable. Females are more likely to have dilated cardiomyopathy, with a smaller proportion requiring heart transplantation compared to affected males. Cardiac conduction abnormalities, skeletal muscle weakness, mild cognitive impairment, and pigmentary retinopathy are variably seen in affected females." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=209235
ConceptID=C0878677
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Danon disease<span class="h1sub">(GSD2B, FORMERLY)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209235</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.">C0878677</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>ANTOPOL DISEASE; Glycogen storage cardiomyopathy; Glycogen storage disease limited to the heart; Glycogen storage disease type 2b (formerly); Glycogen Storage Disease Type IIb; GSD IIb; GSD2B (formerly); LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY; Lysosomal glycogen storage disease without acid maltase deficiency (formerly); Pseudoglycogenosis 2; PSEUDOGLYCOGENOSIS II; Vacuolar cardiomyopathy and myopathy X-linked</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Danon disease (419097006); Glycogenosis due to LAMP-2 deficiency (419097006); Lysosomal glycogen storage disease with normal acid maltase activity (419097006); Glycogen storage disease due to LAMP-2 deficiency (419097006); Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (419097006)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</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">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="LAMP2 - ID: 3920 - NCBI Gene" href="/gene/3920" class="medgenPMinfo">LAMP2</a> (Xq24)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0010281" target="_blank">MONDO:0010281</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/300257" target="_blank">300257</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=34587">ORPHA34587</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/NBK554742" target="_blank">Danon Disease</a></div><div>Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are typically more severely affected than females. Males usually present with childhood onset concentric hypertrophic cardiomyopathy that is progressive and often requires heart transplantation. Rarely, hypertrophic cardiomyopathy can evolve to resemble dilated cardiomyopathy. Most affected males also have cardiac conduction abnormalities. Skeletal muscle weakness may lead to delayed acquisition of motor milestones. Learning disability and intellectual disability, most often in the mild range, are common. Additionally, affected males can develop retinopathy with subsequent visual impairment. The clinical features in females are broader and more variable. Females are more likely to have dilated cardiomyopathy, with a smaller proportion requiring heart transplantation compared to affected males. Cardiac conduction abnormalities, skeletal muscle weakness, mild cognitive impairment, and pigmentary retinopathy are variably seen in affected females. [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/NBK554742#danon.Summary" target="NBK554742">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.Diagnosis" target="NBK554742">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.Clinical_Characteristics" target="NBK554742">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.Genetically_Related_Allelic_Disord" target="NBK554742">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.Differential_Diagnosis" target="NBK554742">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.Management" target="NBK554742">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.Genetic_Counseling" target="NBK554742">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.Resources" target="NBK554742">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.Molecular_Genetics" target="NBK554742">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.Chapter_Notes" target="NBK554742">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK554742#danon.References" target="NBK554742">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Matthew RG Taylor  |  Eric D Adler   <a href="/books/NBK554742" target="NBK554742" title="NCBI Bookshelf: Danon Disease">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 />Danon disease is an X-linked dominant disorder predominantly affecting cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. The accumulation of glycogen in muscle and lysosomes originally led to the classification of Danon disease as a variant of glycogen storage disease II (Pompe disease; 232300) with 'normal acid maltase' or alpha-glucosidase (GAA; 606800) (Danon et al., 1981). However, Nishino et al. (2000) stated that Danon disease is not a glycogen storage disease because glycogen is not always increased.&#13;
Sugie et al. (2005) classified Danon disease as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. The characteristic vacuole is believed to be an autolysosome surrounded by secondarily-generated membranes containing sarcolemmal proteins, basal lamina, and acetylcholinesterase activity.&#13;
X-linked myopathy with excessive autophagy (XMEA; 310440) is a distinct disorder with similar pathologic features.  <a target="_blank" href="http://www.omim.org/entry/300257">http://www.omim.org/entry/300257</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles (myopathy); and intellectual disabilities. People with Danon disease may develop the condition at different ages. Signs and symptoms of this condition appear about 15 years earlier in males than in females. Males first experience health problems in childhood or adolescence; without treatment, these individuals typically live into early adulthood. Females start experiencing health problems in early adulthood and typically survive into mid-adulthood without treatment.<br /><br />Cardiomyopathy is the most common symptom of Danon disease, and it occurs in all males and in most females. Beginning in childhood, most affected males develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that may make it harder for the heart to pump blood. Others with Danon disease may have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. About half of females with Danon disease have hypertrophic cardiomyopathy, and the other half have dilated cardiomyopathy. Rarely, individuals with hypertrophic cardiomyopathy later develop dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure and premature death.<br /><br />Individuals with Danon disease can have other heart-related signs and symptoms, including a sensation of fluttering or pounding in the chest (palpitations), an abnormal heartbeat (arrhythmia), or chest pain. Many affected individuals have abnormalities of the electrical signals that control the heartbeat (conduction abnormalities). Affected individuals often have a specific conduction abnormality known as cardiac preexcitation. The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern.<br /><br />Skeletal myopathy occurs in most males with Danon disease and in some affected females. The weakness typically occurs in the muscles of the shoulders, neck, and upper thighs. Many males with Danon disease have elevated levels of an enzyme called creatine kinase in their blood, which often indicates muscle disease.<br /><br />Most males with Danon disease have mild intellectual disabilities, but this is much less common in affected females.<br /><br />There can be other signs and symptoms of the condition in addition to the three characteristic features. Several affected individuals have had gastrointestinal disease, breathing problems, or visual abnormalities.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/danon-disease">https://medlineplus.gov/genetics/condition/danon-disease</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_603270"><div><strong>Exercise intolerance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>603270</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.">C0424551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/603270">Feature record</a> | <a href="/medgen?term=%22Exercise%20intolerance%22%5BClinical%20Features%5D%20OR%20603270%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_107956"><div><strong>Limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107956</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.">C0587246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced strength and weakness of the muscles of the arms and legs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107956">Feature record</a> | <a href="/medgen?term=%22Limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20107956%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</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.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_13956"><div><strong>Atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13956</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.">C0004245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/13956">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2013956%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2880"><div><strong>Primary dilated cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2880</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.">C0007193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2880">Feature record</a> | <a href="/medgen?term=%22Primary%20dilated%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202880%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2881"><div><strong>Hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2881</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.">C0007194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2881">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202881%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5459"><div><strong>Cardiomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5459</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.">C0018800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5459">Feature record</a> | <a href="/medgen?term=%22Cardiomegaly%22%5BClinical%20Features%5D%20OR%205459%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_21443"><div><strong>Syncope</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21443</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.">C0039070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21443">Feature record</a> | <a href="/medgen?term=%22Syncope%22%5BClinical%20Features%5D%20OR%2021443%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_12068"><div><strong>Ventricular tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12068</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.">C0042514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12068">Feature record</a> | <a href="/medgen?term=%22Ventricular%20tachycardia%22%5BClinical%20Features%5D%20OR%2012068%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_39317"><div><strong>Atrial arrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39317</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.">C0085611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39317">Feature record</a> | <a href="/medgen?term=%22Atrial%20arrhythmia%22%5BClinical%20Features%5D%20OR%2039317%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_56239"><div><strong>Myocardial fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56239</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.">C0151654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56239">Feature record</a> | <a href="/medgen?term=%22Myocardial%20fibrosis%22%5BClinical%20Features%5D%20OR%2056239%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_75546"><div><strong>Second degree atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75546</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.">C0264906</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75546">Feature record</a> | <a href="/medgen?term=%22Second%20degree%20atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2075546%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_909971"><div><strong>Increased QRS voltage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>909971</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.">C1112650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/909971">Feature record</a> | <a href="/medgen?term=%22Increased%20QRS%20voltage%22%5BClinical%20Features%5D%20OR%20909971%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_254841"><div><strong>Myocardial necrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>254841</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.">C1442837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/254841">Feature record</a> | <a href="/medgen?term=%22Myocardial%20necrosis%22%5BClinical%20Features%5D%20OR%20254841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_868396"><div><strong>Severely reduced left ventricular ejection fraction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868396</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.">C4022790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868396">Feature record</a> | <a href="/medgen?term=%22Severely%20reduced%20left%20ventricular%20ejection%20fraction%22%5BClinical%20Features%5D%20OR%20868396%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_39223"><div><strong>Hypokinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39223</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.">C0086439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39223">Feature record</a> | <a href="/medgen?term=%22Hypokinesia%22%5BClinical%20Features%5D%20OR%2039223%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_90932"><div><strong>Cognitive impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90932</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.">C0338656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90932">Feature record</a> | <a href="/medgen?term=%22Cognitive%20impairment%22%5BClinical%20Features%5D%20OR%2090932%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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced strength of muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_113169"><div><strong>Proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113169</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.">C0221629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A lack of strength of the proximal muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113169">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20113169%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140883"><div><strong>Distal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140883</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.">C0427065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced strength of the musculature of the distal extremities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140883">Feature record</a> | <a href="/medgen?term=%22Distal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20140883%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_234650"><div><strong>Generalized amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234650</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.">C1389113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/234650">Feature record</a> | <a href="/medgen?term=%22Generalized%20amyotrophy%22%5BClinical%20Features%5D%20OR%20234650%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_383715"><div><strong>Exercise-induced muscle cramps</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383715</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.">C1855578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Sudden and involuntary contractions of one or more muscles brought on by physical exertion.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383715">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20muscle%20cramps%22%5BClinical%20Features%5D%20OR%20383715%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_867362"><div><strong>EMG: myopathic abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867362</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.">C4021726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867362">Feature record</a> | <a href="/medgen?term=%22EMG%3A%20myopathic%20abnormalities%22%5BClinical%20Features%5D%20OR%20867362%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870475"><div><strong>Lower limb amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870475</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.">C4024921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Muscular atrophy affecting the lower limb.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870475">Feature record</a> | <a href="/medgen?term=%22Lower%20limb%20amyotrophy%22%5BClinical%20Features%5D%20OR%20870475%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1814214"><div><strong>Skeletal muscle autophagosome accumulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814214</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.">C5676640</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal accumulation of autophagosomes in skeletal muscle tissue.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1814214">Feature record</a> | <a href="/medgen?term=%22Skeletal%20muscle%20autophagosome%20accumulation%22%5BClinical%20Features%5D%20OR%201814214%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</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.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</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.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%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 limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb muscle weakness</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</a></span></li></ul></li><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_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</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_39317" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial arrhythmia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular block</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomegaly</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_2881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_909971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased QRS voltage</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myocardial fibrosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_254841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myocardial necrosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary dilated cardiomyopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Second degree atrioventricular block</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868396" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severely reduced left ventricular ejection fraction</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21443" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syncope</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular tachycardia</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 eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</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_140883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal muscle weakness</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG: myopathic abnormalities</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383715" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced muscle cramps</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized amyotrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870475" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower limb amyotrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1814214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal muscle autophagosome accumulation</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_90932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cognitive impairment</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_39223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokinesia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_603270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise intolerance</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=C0878677[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=209235">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=209235" target="_blank" href="/omim/300257">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK554742/" ref="ncbi_uid=209235">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=209235" ref="ncbi_uid=209235">V</a></span></span><span class="TLline">Danon disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871271" ref="tree=MeSH" title="MedGen record for Abnormal myocardium morphology">Abnormal myocardium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/209232" ref="tree=MeSH" title="MedGen record for Cardiomyopathy">Cardiomyopathy</a></span><ul><li><span class="matched_ds">Danon disease</span></li></ul></li></ul></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=10348&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Danon disease</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/37821174">International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hong KN,
Eshraghian EA,
Arad M,
Argirò A,
Brambatti M,
Bui Q,
Caspi O,
de Frutos F,
Greenberg B,
Ho CY,
Kaski JP,
Olivotto I,
Taylor MRG,
Yesso A,
Garcia-Pavia P,
Adler ED</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2023 Oct 17;82(16):1628-1647.
doi: 10.1016/j.jacc.2023.08.014.
<span class="bold">PMID: </span><a href="/pubmed/37821174" target="_blank">37821174</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34081227">Utility of Cardiac Magnetic Resonance Imaging in the Diagnosis, Prognosis, and Treatment of Infiltrative Cardiomyopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ranganath PG,
Tower-Rader A</span><br />
<span class="medgenPMjournal">Curr Cardiol Rep</span>
2021 Jun 3;23(7):87.
doi: 10.1007/s11886-021-01518-y.
<span class="bold">PMID: </span><a href="/pubmed/34081227" target="_blank">34081227</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25228319">Danon disease: clinical features, evaluation, and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">D'souza RS,
Levandowski C,
Slavov D,
Graw SL,
Allen LA,
Adler E,
Mestroni L,
Taylor MR</span><br />
<span class="medgenPMjournal">Circ Heart Fail</span>
2014 Sep;7(5):843-9.
doi: 10.1161/CIRCHEARTFAILURE.114.001105.
<span class="bold">PMID: </span><a href="/pubmed/25228319" target="_blank">25228319</a><a href="/pmc/articles/PMC4169002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22danon%20disease%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 (5)</a></div></div>
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<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
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/37966402">Applications of Gene Therapy in Cardiomyopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Argiro A,
Bui Q,
Hong KN,
Ammirati E,
Olivotto I,
Adler E</span><br />
<span class="medgenPMjournal">JACC Heart Fail</span>
2024 Feb;12(2):248-260.
Epub 2023 Oct 7
doi: 10.1016/j.jchf.2023.09.015.
<span class="bold">PMID: </span><a href="/pubmed/37966402" target="_blank">37966402</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34081227">Utility of Cardiac Magnetic Resonance Imaging in the Diagnosis, Prognosis, and Treatment of Infiltrative Cardiomyopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ranganath PG,
Tower-Rader A</span><br />
<span class="medgenPMjournal">Curr Cardiol Rep</span>
2021 Jun 3;23(7):87.
doi: 10.1007/s11886-021-01518-y.
<span class="bold">PMID: </span><a href="/pubmed/34081227" target="_blank">34081227</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26551884">Sudden cardiac death in neuromuscular disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
Stöllberger C,
Maeztu C</span><br />
<span class="medgenPMjournal">Int J Cardiol</span>
2016 Jan 15;203:508-15.
Epub 2015 Oct 28
doi: 10.1016/j.ijcard.2015.10.176.
<span class="bold">PMID: </span><a href="/pubmed/26551884" target="_blank">26551884</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17027858">Autophagic vacuolar myopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nishino I</span><br />
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
2006 Jun;13(2):90-5.
doi: 10.1016/j.spen.2006.06.004.
<span class="bold">PMID: </span><a href="/pubmed/17027858" target="_blank">17027858</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12507414">Autophagic vacuolar myopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nishino I</span><br />
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
2003 Jan;3(1):64-9.
doi: 10.1007/s11910-003-0040-y.
<span class="bold">PMID: </span><a href="/pubmed/12507414" target="_blank">12507414</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Danon%20disease%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 (48)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37821174">International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hong KN,
Eshraghian EA,
Arad M,
Argirò A,
Brambatti M,
Bui Q,
Caspi O,
de Frutos F,
Greenberg B,
Ho CY,
Kaski JP,
Olivotto I,
Taylor MRG,
Yesso A,
Garcia-Pavia P,
Adler ED</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2023 Oct 17;82(16):1628-1647.
doi: 10.1016/j.jacc.2023.08.014.
<span class="bold">PMID: </span><a href="/pubmed/37821174" target="_blank">37821174</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37660381">Danon disease: Rare cause of cardiomyopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dzierla J,
Pelczar-Płachta W,
Baszkowski F,
Bobkowski W</span><br />
<span class="medgenPMjournal">Kardiol Pol</span>
2023;81(12):1288-1289.
Epub 2023 Sep 3
doi: 10.33963/v.kp.97064.
<span class="bold">PMID: </span><a href="/pubmed/37660381" target="_blank">37660381</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32012649">Lysosomal Abnormalities in Cardiovascular Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chi C,
Riching AS,
Song K</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2020 Jan 27;21(3)
doi: 10.3390/ijms21030811.
<span class="bold">PMID: </span><a href="/pubmed/32012649" target="_blank">32012649</a><a href="/pmc/articles/PMC7036830" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29525649">Genetic Infiltrative Cardiomyopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sweet ME,
Mestroni L,
Taylor MRG</span><br />
<span class="medgenPMjournal">Heart Fail Clin</span>
2018 Apr;14(2):215-224.
doi: 10.1016/j.hfc.2017.12.003.
<span class="bold">PMID: </span><a href="/pubmed/29525649" target="_blank">29525649</a><a href="/pmc/articles/PMC5894511" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25228319">Danon disease: clinical features, evaluation, and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">D'souza RS,
Levandowski C,
Slavov D,
Graw SL,
Allen LA,
Adler E,
Mestroni L,
Taylor MR</span><br />
<span class="medgenPMjournal">Circ Heart Fail</span>
2014 Sep;7(5):843-9.
doi: 10.1161/CIRCHEARTFAILURE.114.001105.
<span class="bold">PMID: </span><a href="/pubmed/25228319" target="_blank">25228319</a><a href="/pmc/articles/PMC4169002" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Danon%20disease%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 (110)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39556016">Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg B,
Taylor M,
Adler E,
Colan S,
Ricks D,
Yarabe P,
Battiprolu P,
Shah G,
Patel K,
Coggins M,
Carou-Keenan S,
Schwartz JD,
Rossano JW</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2025 Mar 6;392(10):972-983.
Epub 2024 Nov 18
doi: 10.1056/NEJMoa2412392.
<span class="bold">PMID: </span><a href="/pubmed/39556016" target="_blank">39556016</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37572991">Effect of pharmacological heart failure drugs and gene therapy on Danon's cardiomyopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yadin D,
Guetta T,
Petrover Z,
Alcalai R,
Seidman J,
Seidman CE,
Ofek E,
Kornowski R,
Hochhauser E,
Arad M</span><br />
<span class="medgenPMjournal">Biochem Pharmacol</span>
2023 Sep;215:115735.
Epub 2023 Aug 10
doi: 10.1016/j.bcp.2023.115735.
<span class="bold">PMID: </span><a href="/pubmed/37572991" target="_blank">37572991</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34737089">Clinical features of Danon disease and insights gained from LAMP-2 deficiency models.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhai Y,
Miao J,
Peng Y,
Wang Y,
Dong J,
Zhao X</span><br />
<span class="medgenPMjournal">Trends Cardiovasc Med</span>
2023 Feb;33(2):81-89.
Epub 2021 Nov 2
doi: 10.1016/j.tcm.2021.10.012.
<span class="bold">PMID: </span><a href="/pubmed/34737089" target="_blank">34737089</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31672277">Lysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JJ,
Ishihara K,
Notomi S,
Efstathiou NE,
Ueta T,
Maidana D,
Chen X,
Iesato Y,
Caligiana A,
Vavvas DG</span><br />
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
2020 Jan 8;521(2):414-419.
Epub 2019 Oct 28
doi: 10.1016/j.bbrc.2019.10.138.
<span class="bold">PMID: </span><a href="/pubmed/31672277" target="_blank">31672277</a><a href="/pmc/articles/PMC6935401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31268275">Perioperative management of patients with genetic multisystem diseases associated with pre‑excitation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Staikou C,
Stamelos M,
Stavroulakis E</span><br />
<span class="medgenPMjournal">Anaesthesiol Intensive Ther</span>
2019;51(2):133-146.
doi: 10.5114/ait.2019.86278.
<span class="bold">PMID: </span><a href="/pubmed/31268275" target="_blank">31268275</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Danon%20disease%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 (15)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39456205">History and Perspective of LAMP-2 Deficiency (Danon Disease).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sugie K,
Nishino I</span><br />
<span class="medgenPMjournal">Biomolecules</span>
2024 Oct 9;14(10)
doi: 10.3390/biom14101272.
<span class="bold">PMID: </span><a href="/pubmed/39456205" target="_blank">39456205</a><a href="/pmc/articles/PMC11506487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36876541">New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sivitskaya L,
Vaikhanskaya T,
Danilenko N,
Liaudanski A,
Davydenko O,
Zhelev N</span><br />
<span class="medgenPMjournal">Folia Med (Plovdiv)</span>
2022 Oct 31;64(5):853-862.
doi: 10.3897/folmed.64.e66292.
<span class="bold">PMID: </span><a href="/pubmed/36876541" target="_blank">36876541</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35275782">Cardiac MRI of Hereditary Cardiomyopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fadl SA,
Revels JW,
Rezai Gharai L,
Hanneman K,
Dana F,
Proffitt EK,
Grizzard JD</span><br />
<span class="medgenPMjournal">Radiographics</span>
2022 May-Jun;42(3):625-643.
Epub 2022 Mar 11
doi: 10.1148/rg.210147.
<span class="bold">PMID: </span><a href="/pubmed/35275782" target="_blank">35275782</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31698507">Review: Danon disease: Review of natural history and recent advances.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cenacchi G,
Papa V,
Pegoraro V,
Marozzo R,
Fanin M,
Angelini C</span><br />
<span class="medgenPMjournal">Neuropathol Appl Neurobiol</span>
2020 Jun;46(4):303-322.
Epub 2019 Nov 25
doi: 10.1111/nan.12587.
<span class="bold">PMID: </span><a href="/pubmed/31698507" target="_blank">31698507</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26718199">Utility of late gadolinium enhancement in pediatric cardiac MRI.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Etesami M,
Gilkeson RC,
Rajiah P</span><br />
<span class="medgenPMjournal">Pediatr Radiol</span>
2016 Jul;46(8):1096-113.
Epub 2015 Dec 30
doi: 10.1007/s00247-015-3526-2.
<span class="bold">PMID: </span><a href="/pubmed/26718199" target="_blank">26718199</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Danon%20disease%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 (45)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39556016">Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Greenberg B,
Taylor M,
Adler E,
Colan S,
Ricks D,
Yarabe P,
Battiprolu P,
Shah G,
Patel K,
Coggins M,
Carou-Keenan S,
Schwartz JD,
Rossano JW</span><br />
<span class="medgenPMjournal">N Engl J Med</span>
2025 Mar 6;392(10):972-983.
Epub 2024 Nov 18
doi: 10.1056/NEJMoa2412392.
<span class="bold">PMID: </span><a href="/pubmed/39556016" target="_blank">39556016</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37966402">Applications of Gene Therapy in Cardiomyopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Argiro A,
Bui Q,
Hong KN,
Ammirati E,
Olivotto I,
Adler E</span><br />
<span class="medgenPMjournal">JACC Heart Fail</span>
2024 Feb;12(2):248-260.
Epub 2023 Oct 7
doi: 10.1016/j.jchf.2023.09.015.
<span class="bold">PMID: </span><a href="/pubmed/37966402" target="_blank">37966402</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32499120">Clinical features and cardiovascular magnetic resonance characteristics in Danon disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">He J,
Xu J,
Chen L,
Ji K,
Fan X,
Zhao S,
Lu M</span><br />
<span class="medgenPMjournal">Clin Radiol</span>
2020 Sep;75(9):712.e1-712.e11.
Epub 2020 Jun 1
doi: 10.1016/j.crad.2020.04.012.
<span class="bold">PMID: </span><a href="/pubmed/32499120" target="_blank">32499120</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31672277">Lysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JJ,
Ishihara K,
Notomi S,
Efstathiou NE,
Ueta T,
Maidana D,
Chen X,
Iesato Y,
Caligiana A,
Vavvas DG</span><br />
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
2020 Jan 8;521(2):414-419.
Epub 2019 Oct 28
doi: 10.1016/j.bbrc.2019.10.138.
<span class="bold">PMID: </span><a href="/pubmed/31672277" target="_blank">31672277</a><a href="/pmc/articles/PMC6935401" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30594732">Lysosomal storage disorders affecting the heart: a review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nair V,
Belanger EC,
Veinot JP</span><br />
<span class="medgenPMjournal">Cardiovasc Pathol</span>
2019 Mar-Apr;39:12-24.
Epub 2018 Dec 1
doi: 10.1016/j.carpath.2018.11.002.
<span class="bold">PMID: </span><a href="/pubmed/30594732" target="_blank">30594732</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Danon%20disease%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 (32)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0878677%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
<li><a href="/gtr/tests?term=C0878677%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (75)</a></li>
<li><a href="/gtr/tests?term=C0878677%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
<li><a href="/gtr/tests?term=C0878677%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=C0878677%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C0878677%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (107)</a></li>
<li><a href="/gtr/tests?term=C0878677%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (20)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0878677%5bDISCUI%5d" target="_blank">See all (119)</a></total></li>
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<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=300257" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=34587" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Danon%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22danon%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Danon%20disease%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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