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<meta name="keywords" content="C1839259, ar, atrophies, x-linked bulbo-spinal, atrophy, muscular, spinobulbar, atrophy, spinobulbar muscular, atrophy, x-linked bulbo-spinal, bulbo spinal atrophy, x linked, bulbo-spinal atrophies, x-linked, bulbo-spinal atrophy x-linked, bulbo-spinal atrophy, x-linked, bulbospinal muscular atrophy, bulbospinal muscular atrophy, x linked, bulbospinal muscular atrophy, x-linked, bulbospinal neuronopathy x-linked recessive, bulbospinal neuronopathy, x-linked recessive, disease or syndrome, kd, kennedy disease, kennedy spinal and bulbar muscular atrophy, kennedy syndrome, kennedy's disease, muscular atrophy, spinobulbar, sbma, smax1, spinal and bulbar muscular atrophy, spinal and bulbar muscular atrophy of kennedy, x-linked recessive, spinal and bulbar muscular atrophy x-linked, spinal and bulbar muscular atrophy, x linked 1, spinal and bulbar muscular atrophy, x-linked 1, spinal and bulbar muscular atrophy, x-linked type 1, spinal bulbar muscular atrophy, spinobulbar muscular atrophies, spinobulbar muscular atrophy, x linked bulbo spinal atrophy, x linked bulbospinal muscular atrophy, x linked spinal and bulbar muscular atrophy, x-linked bsma, x-linked bulbo-spinal atrophies, x-linked bulbo-spinal atrophy, x-linked bulbospinal amyotrophy, x-linked bulbospinal atrophy, x-linked bulbospinal muscular atrophy, x-linked spinal and bulbar muscular atrophy, 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="Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations in affected males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=333282
|
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ConceptID=C1839259
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Kennedy disease<span class="h1sub">(SMAX1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333282</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1839259</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Bulbo-spinal atrophy X-linked; Bulbospinal neuronopathy X-linked recessive; KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY; SMAX1; Spinal and Bulbar Muscular Atrophy; Spinal and bulbar muscular atrophy X-linked; SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Kennedy syndrome (230253001); X-linked bulbospinal atrophy (230253001); Bulbospinal muscular atrophy (230253001)</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) 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="AR - ID: 367 - NCBI Gene" href="/gene/367" class="medgenPMinfo">AR</a> (Xq12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010735" target="_blank">MONDO:0010735</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/313200" target="_blank">313200</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&Expert=481">ORPHA481</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>
|
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<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/NBK1333" target="_blank">Spinal and Bulbar Muscular Atrophy</a></div><div>Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations in affected males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity. [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/NBK1333#kennedy.Summary" target="NBK1333">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.Diagnosis" target="NBK1333">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.Clinical_Characteristics" target="NBK1333">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.Genetically_Related_Allelic_Diso" target="NBK1333">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.Differential_Diagnosis" target="NBK1333">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.Management" target="NBK1333">Management</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.Genetic_Counseling" target="NBK1333">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.Resources" target="NBK1333">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.Molecular_Genetics" target="NBK1333">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.Chapter_Notes" target="NBK1333">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1333#kennedy.References" target="NBK1333">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Albert La Spada <a href="/books/NBK1333" target="NBK1333" title="NCBI Bookshelf: Spinal and Bulbar Muscular Atrophy">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 />Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; 253300). <a target="_blank" href="http://www.omim.org/entry/313200">http://www.omim.org/entry/313200</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).<br /><br />Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile). <a target="_blank" href="https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy">https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy</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_57626"><div><strong>Testicular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57626</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0156312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57626">Feature record</a> | <a href="/medgen?term=%22Testicular%20atrophy%22%5BClinical%20Features%5D%20OR%2057626%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452706"><div><strong>Decreased fertility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452706</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0729353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452706">Feature record</a> | <a href="/medgen?term=%22Decreased%20fertility%22%5BClinical%20Features%5D%20OR%20452706%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) 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_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5124"><div><strong>Fasciculations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0015644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5124">Feature record</a> | <a href="/medgen?term=%22Fasciculations%22%5BClinical%20Features%5D%20OR%205124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18386"><div><strong>Peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18386</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0031117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18386">Feature record</a> | <a href="/medgen?term=%22Peripheral%20neuropathy%22%5BClinical%20Features%5D%20OR%2018386%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101791"><div><strong>Sensory neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101791</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151313</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peripheral neuropathy affecting the sensory nerves.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101791">Feature record</a> | <a href="/medgen?term=%22Sensory%20neuropathy%22%5BClinical%20Features%5D%20OR%20101791%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_898626"><div><strong>Bulbar palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898626</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4082299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898626">Feature record</a> | <a href="/medgen?term=%22Bulbar%20palsy%22%5BClinical%20Features%5D%20OR%20898626%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52431"><div><strong>Muscle spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52431</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0037763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden and involuntary contractions of one or more muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52431">Feature record</a> | <a href="/medgen?term=%22Muscle%20spasm%22%5BClinical%20Features%5D%20OR%2052431%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335868"><div><strong>Calf muscle hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335868</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscle hypertrophy affecting the calf muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335868">Feature record</a> | <a href="/medgen?term=%22Calf%20muscle%20hypertrophy%22%5BClinical%20Features%5D%20OR%20335868%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) 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_6447"><div><strong>Abnormality of the mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6447</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026633</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the mouth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6447">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20mouth%22%5BClinical%20Features%5D%20OR%206447%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6694"><div><strong>Gynecomastia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6694</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal development of large mammary glands in males resulting in breast enlargement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6694">Feature record</a> | <a href="/medgen?term=%22Gynecomastia%22%5BClinical%20Features%5D%20OR%206694%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(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the mouth</a></span></li></ul></li><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></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 breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gynecomastia</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_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_452706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased fertility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Testicular atrophy</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_335868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calf muscle hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle spasm</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_898626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bulbar palsy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fasciculations</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sensory neuropathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</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=C1839259[DISCUI]&test_type=Clinical" ref="ncbi_uid=333282">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333282" target="_blank" href="/omim/313200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1333/" ref="ncbi_uid=333282">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333282" ref="ncbi_uid=333282">V</a></span></span><span class="TLline">Kennedy disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843075" ref="tree=MeSH" title="MedGen record for Bulbospinal muscular atrophy of adulthood">Bulbospinal muscular atrophy of adulthood</a></span><ul><li><span class="matched_ds">Kennedy disease</span></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&data_id=156&PatId=169&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Kennedy 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/37058074">Genotype and clinical phenotype analysis of a Family with Kennedy disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai BC,
|
||
Zhong LF,
|
||
Liu YH,
|
||
Sui ZY,
|
||
Yang Q,
|
||
Zeng DT,
|
||
Li X,
|
||
Xu WD,
|
||
Chen T</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2023 Apr 14;102(15):e33502.
|
||
doi: 10.1097/MD.0000000000033502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37058074" target="_blank">37058074</a><a href="/pmc/articles/PMC10101244" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30075105">Motor Neuron Disease: Pathophysiology, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Foster LA,
|
||
Salajegheh MK</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2019 Jan;132(1):32-37.
|
||
Epub 2018 Aug 1
|
||
doi: 10.1016/j.amjmed.2018.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30075105" target="_blank">30075105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23408598">A role for androgen reduction treatment in Kennedy disease?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischbeck KH</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2013 Jun;47(6):789.
|
||
Epub 2013 Mar 21
|
||
doi: 10.1002/mus.23814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23408598" target="_blank">23408598</a><a href="/pmc/articles/PMC4283484" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22kennedy%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 (6)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37578398">Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baskar D,
|
||
Veeramani-Kumar P,
|
||
Polavarapu K,
|
||
Nashi S,
|
||
Vengalil S,
|
||
Menon D,
|
||
Thomas A,
|
||
Bhargava Sanka S,
|
||
Muddasu Suhasini K,
|
||
Huddar A,
|
||
Unnikrishnan G,
|
||
Bardhan M,
|
||
Thomas PT,
|
||
Manjunath N,
|
||
Atchayaram N</span><br />
|
||
<span class="medgenPMjournal">Intern Med J</span>
|
||
2024 Mar;54(3):455-460.
|
||
Epub 2023 Aug 14
|
||
doi: 10.1111/imj.16205.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37578398" target="_blank">37578398</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32276665">The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pradat PF,
|
||
Bernard E,
|
||
Corcia P,
|
||
Couratier P,
|
||
Jublanc C,
|
||
Querin G,
|
||
Morélot Panzini C,
|
||
Salachas F,
|
||
Vial C,
|
||
Wahbi K,
|
||
Bede P,
|
||
Desnuelle C;
|
||
French Kennedy’s Disease Writing Group</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Apr 10;15(1):90.
|
||
doi: 10.1186/s13023-020-01366-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32276665" target="_blank">32276665</a><a href="/pmc/articles/PMC7149864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28456383">Adult-onset spinal muscular atrophy: An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juntas Morales R,
|
||
Pageot N,
|
||
Taieb G,
|
||
Camu W</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2017 May;173(5):308-319.
|
||
Epub 2017 Apr 26
|
||
doi: 10.1016/j.neurol.2017.03.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28456383" target="_blank">28456383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26585990">Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dahlqvist JR,
|
||
Vissing J</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2016 Mar;58(3):388-93.
|
||
Epub 2015 Nov 19
|
||
doi: 10.1007/s12031-015-0686-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26585990" target="_blank">26585990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15728312">Laryngospasm: an underdiagnosed symptom of X-linked spinobulbar muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sperfeld AD,
|
||
Hanemann CO,
|
||
Ludolph AC,
|
||
Kassubek J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2005 Feb 22;64(4):753-4.
|
||
doi: 10.1212/01.WNL.0000151978.74467.E7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15728312" target="_blank">15728312</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kennedy%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 (23)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31566244">Bright tongue sign in Kennedy disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin X,
|
||
Wu S</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2020 Jan 1;113(1):45-46.
|
||
doi: 10.1093/qjmed/hcz231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31566244" target="_blank">31566244</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30075105">Motor Neuron Disease: Pathophysiology, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Foster LA,
|
||
Salajegheh MK</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2019 Jan;132(1):32-37.
|
||
Epub 2018 Aug 1
|
||
doi: 10.1016/j.amjmed.2018.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30075105" target="_blank">30075105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25736958">Laboratory evaluation of suspected motor neuron disease: A survey of physicians.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanderson AB,
|
||
Novak JC,
|
||
Nash SM,
|
||
Kolb SJ,
|
||
Kissel JT</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 Jul;52(1):83-7.
|
||
Epub 2015 May 14
|
||
doi: 10.1002/mus.24639.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25736958" target="_blank">25736958</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12810497">Kennedy disease: avoiding misdiagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paparounas K,
|
||
Gotsi A,
|
||
Syrrou M,
|
||
Akritidis N</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
2003 Jun;60(6):893-4.
|
||
doi: 10.1001/archneur.60.6.893.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12810497" target="_blank">12810497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7595622">Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jöbsis GJ,
|
||
Louwerse ES,
|
||
de Visser M,
|
||
Wolterman RA,
|
||
Bolhuis PA,
|
||
Busch HF,
|
||
Brüggenwirth HT,
|
||
Baas F,
|
||
Wiersinga WM,
|
||
Koelman JH</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
1995 May;129 Suppl:56-7.
|
||
doi: 10.1016/0022-510x(95)00064-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7595622" target="_blank">7595622</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kennedy%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 (49)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38552412">271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pennuto M,
|
||
Pradat PF,
|
||
Sorarù G,
|
||
Greensmith L;
|
||
KD Consortium</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2024 May;38:8-19.
|
||
Epub 2024 Mar 11
|
||
doi: 10.1016/j.nmd.2024.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38552412" target="_blank">38552412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26744358">Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pareyson D,
|
||
Fratta P,
|
||
Pradat PF,
|
||
Sorarù G,
|
||
Finsterer J,
|
||
Vissing J,
|
||
Jokela ME,
|
||
Udd B,
|
||
Ludolph AC,
|
||
Sagnelli A,
|
||
Weydt P</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2016 Mar;58(3):394-400.
|
||
Epub 2016 Jan 7
|
||
doi: 10.1007/s12031-015-0704-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26744358" target="_blank">26744358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26585990">Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dahlqvist JR,
|
||
Vissing J</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2016 Mar;58(3):388-93.
|
||
Epub 2015 Nov 19
|
||
doi: 10.1007/s12031-015-0686-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26585990" target="_blank">26585990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26572537">Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weydt P,
|
||
Sagnelli A,
|
||
Rosenbohm A,
|
||
Fratta P,
|
||
Pradat PF,
|
||
Ludolph AC,
|
||
Pareyson D</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2016 Mar;58(3):379-87.
|
||
Epub 2015 Nov 14
|
||
doi: 10.1007/s12031-015-0682-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26572537" target="_blank">26572537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7595622">Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jöbsis GJ,
|
||
Louwerse ES,
|
||
de Visser M,
|
||
Wolterman RA,
|
||
Bolhuis PA,
|
||
Busch HF,
|
||
Brüggenwirth HT,
|
||
Baas F,
|
||
Wiersinga WM,
|
||
Koelman JH</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
1995 May;129 Suppl:56-7.
|
||
doi: 10.1016/0022-510x(95)00064-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7595622" target="_blank">7595622</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kennedy%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37578398">Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baskar D,
|
||
Veeramani-Kumar P,
|
||
Polavarapu K,
|
||
Nashi S,
|
||
Vengalil S,
|
||
Menon D,
|
||
Thomas A,
|
||
Bhargava Sanka S,
|
||
Muddasu Suhasini K,
|
||
Huddar A,
|
||
Unnikrishnan G,
|
||
Bardhan M,
|
||
Thomas PT,
|
||
Manjunath N,
|
||
Atchayaram N</span><br />
|
||
<span class="medgenPMjournal">Intern Med J</span>
|
||
2024 Mar;54(3):455-460.
|
||
Epub 2023 Aug 14
|
||
doi: 10.1111/imj.16205.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37578398" target="_blank">37578398</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30075105">Motor Neuron Disease: Pathophysiology, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Foster LA,
|
||
Salajegheh MK</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2019 Jan;132(1):32-37.
|
||
Epub 2018 Aug 1
|
||
doi: 10.1016/j.amjmed.2018.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30075105" target="_blank">30075105</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28473226">Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Querin G,
|
||
Sorarù G,
|
||
Pradat PF</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2017 May;173(5):326-337.
|
||
Epub 2017 May 1
|
||
doi: 10.1016/j.neurol.2017.03.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28473226" target="_blank">28473226</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24872216">Kennedy disease with biphasic clinical course and rapid progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez Cruz PM,
|
||
Pérez Sánchez JR,
|
||
Catalina Álvarez I,
|
||
Traba López A,
|
||
Muñoz Blanco JL</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2014 Jun;15(4):164-6.
|
||
doi: 10.1097/CND.0000000000000030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24872216" target="_blank">24872216</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18686649">Kennedy disease mimics amyotrophic lateral sclerosis: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu MH,
|
||
Lan MY,
|
||
Liu JS,
|
||
Lai SL,
|
||
Chen SS,
|
||
Chang YY</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Taiwan</span>
|
||
2008 Jun;17(2):99-103.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18686649" target="_blank">18686649</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kennedy%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32276665">The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pradat PF,
|
||
Bernard E,
|
||
Corcia P,
|
||
Couratier P,
|
||
Jublanc C,
|
||
Querin G,
|
||
Morélot Panzini C,
|
||
Salachas F,
|
||
Vial C,
|
||
Wahbi K,
|
||
Bede P,
|
||
Desnuelle C;
|
||
French Kennedy’s Disease Writing Group</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Apr 10;15(1):90.
|
||
doi: 10.1186/s13023-020-01366-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32276665" target="_blank">32276665</a><a href="/pmc/articles/PMC7149864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22006688">Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rocchi C,
|
||
Greco V,
|
||
Urbani A,
|
||
Di Giorgio A,
|
||
Priori M,
|
||
Massa R,
|
||
Bernardi G,
|
||
Marfia GA</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2011 Nov;44(5):737-40.
|
||
doi: 10.1002/mus.22159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22006688" target="_blank">22006688</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18548558">Cortical compensation associated with dysphagia caused by selective degeneration of bulbar motor neurons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dziewas R,
|
||
Teismann IK,
|
||
Suntrup S,
|
||
Schiffbauer H,
|
||
Steinstraeter O,
|
||
Warnecke T,
|
||
Ringelstein EB,
|
||
Pantev C</span><br />
|
||
<span class="medgenPMjournal">Hum Brain Mapp</span>
|
||
2009 Apr;30(4):1352-60.
|
||
doi: 10.1002/hbm.20603.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18548558" target="_blank">18548558</a><a href="/pmc/articles/PMC6870969" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15728312">Laryngospasm: an underdiagnosed symptom of X-linked spinobulbar muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sperfeld AD,
|
||
Hanemann CO,
|
||
Ludolph AC,
|
||
Kassubek J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2005 Feb 22;64(4):753-4.
|
||
doi: 10.1212/01.WNL.0000151978.74467.E7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15728312" target="_blank">15728312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1303195">Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biancalana V,
|
||
Serville F,
|
||
Pommier J,
|
||
Julien J,
|
||
Hanauer A,
|
||
Mandel JL</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1992 Jul;1(4):255-8.
|
||
doi: 10.1093/hmg/1.4.255.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1303195" target="_blank">1303195</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Kennedy%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 (12)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1839259%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C1839259%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1839259%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1839259%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C1839259%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (19)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1839259%5bDISCUI%5d" target="_blank">See all (39)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<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&start=1&limit=10&sort=score%20desc&field=number&search=313200" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=481" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Kennedy%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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=(%22kennedy%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(%22Kennedy%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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&start=1&limit=10&sort=score%20desc&field=number&search=313700" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=367[geneid]" target="_blank">View AR variations in ClinVar</a></li><li><a href="/nuccore/213385253" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=313200" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Kennedy+Disease/993" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/spinal_and_bulbar_muscular_atrophy_x_linked_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Kennedy%20disease" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/spinal-and-bulbar-muscular-atrophy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6818/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301508" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Kennedy%20disease" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Kennedy%20disease%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=333282" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=333282" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1839259[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1839259[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=333282" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=333282" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=333282" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=333282" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=333282" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=333282" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=333282" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=333282" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=333282" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
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