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<!--
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UID=812169
|
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ConceptID=C3805839
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Central hypoventilation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812169</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.">C3805839</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Hypoventilation, central</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007110">HP:0007110</a></td></tr>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Central hypoventilation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/332433" ref="tree=MeSH" title="MedGen record for Abnormal pattern of respiration">Abnormal pattern of respiration</a></span><ul><li><span class="TLline"><a href="/medgen/469022" ref="tree=MeSH" title="MedGen record for Hypoventilation">Hypoventilation</a></span><ul><li><span class="matched_ds">Central hypoventilation</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_330410"><div><strong>Human HOXA1 syndromes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330410</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.">C1832215</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HOXA1-related disorders are characterized by ocular motility disorder (horizontal gaze palsy with or without Duane syndrome), bilateral sensorineural deafness, cerebrovascular malformations (predominantly involving the carotid arteries), motor delay, central hypoventilation, and intellectual disability. Additional common features include congenital heart disease, facial paresis, vocal cord paresis, and swallowing dysfunction. Some individuals have seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330410">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357007"><div><strong>Perry syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357007</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:">C1868594</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357007">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_409616"><div><strong>Severe neonatal-onset encephalopathy with microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>409616</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.">C1968556</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/409616">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383183"><div><strong>Stevenson-Carey syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383183</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.">C2677763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383183">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648426"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648426</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.">C4748768</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794174"><div><strong>Central hypoventilation syndrome, congenital, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794174</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.">C5561964</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital central hypoventilation syndrome-3 (CCHS3) is an autosomal recessive disorder characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present in the neonatal period with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Patients also have gastrointestinal problems manifest as feeding difficulties and diarrhea or constipation. Other features may include poor heat tolerance and paroxysmal hypertension (Hernandez-Miranda et al., 2018). For a discussion of genetic heterogeneity of CCHS, see CCHS1 (209880).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794285"><div><strong>Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794285</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.">C5562075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794285">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824048"><div><strong>Combined oxidative phosphorylation deficiency 57</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824048</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.">C5774275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824048">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central hypoventilation syndrome, congenital, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 57</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330410" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Human HOXA1 syndromes</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perry syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_409616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe neonatal-onset encephalopathy with microcephaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383183" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stevenson-Carey syndrome</a></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/33131661">Management of Rare Causes of Pediatric Chronic Respiratory Failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi J,
|
||
Al-Shamli N,
|
||
Chiang J,
|
||
Amin R</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Clin</span>
|
||
2020 Dec;15(4):511-526.
|
||
Epub 2020 Sep 30
|
||
doi: 10.1016/j.jsmc.2020.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33131661" target="_blank">33131661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32958024">Guidelines for diagnosis and management of congenital central hypoventilation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trang H,
|
||
Samuels M,
|
||
Ceccherini I,
|
||
Frerick M,
|
||
Garcia-Teresa MA,
|
||
Peters J,
|
||
Schoeber J,
|
||
Migdal M,
|
||
Markstrom A,
|
||
Ottonello G,
|
||
Piumelli R,
|
||
Estevao MH,
|
||
Senecic-Cala I,
|
||
Gnidovec-Strazisar B,
|
||
Pfleger A,
|
||
Porto-Abal R,
|
||
Katz-Salamon M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Sep 21;15(1):252.
|
||
doi: 10.1186/s13023-020-01460-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32958024" target="_blank">32958024</a><a href="/pmc/articles/PMC7503443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10390427">Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
1999 Jul;160(1):368-73.
|
||
doi: 10.1164/ajrccm.160.1.16010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10390427" target="_blank">10390427</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22central%20hypoventilation%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 (37)</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/32434902">DCTN1-related Parkinson-plus disorder (Perry syndrome).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson D,
|
||
McEntagart MM,
|
||
Isaacs JD</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2020 Aug;20(4):317-319.
|
||
Epub 2020 May 20
|
||
doi: 10.1136/practneurol-2020-002505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32434902" target="_blank">32434902</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32407531">ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvengt J,
|
||
Gernay C,
|
||
Mastouri M,
|
||
Farhat N,
|
||
Lebrethon MC,
|
||
Seghaye MC,
|
||
Bours V</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Jul 1;105(7)
|
||
doi: 10.1210/clinem/dgaa247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32407531" target="_blank">32407531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30987797">Question 3: What are the indications for and challenges in performing polysomnography in infants?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cielo CM</span><br />
|
||
<span class="medgenPMjournal">Paediatr Respir Rev</span>
|
||
2019 Apr;30:27-29.
|
||
Epub 2019 Feb 28
|
||
doi: 10.1016/j.prrv.2019.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30987797" target="_blank">30987797</a><a href="/pmc/articles/PMC6589377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29779603">Diaphragm Pacing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiMarco AF</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
2018 Jun;39(2):459-471.
|
||
doi: 10.1016/j.ccm.2018.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29779603" target="_blank">29779603</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20188865">Retrotrapezoid nucleus and parafacial respiratory group.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guyenet PG,
|
||
Mulkey DK</span><br />
|
||
<span class="medgenPMjournal">Respir Physiol Neurobiol</span>
|
||
2010 Oct 31;173(3):244-55.
|
||
Epub 2010 Feb 25
|
||
doi: 10.1016/j.resp.2010.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20188865" target="_blank">20188865</a><a href="/pmc/articles/PMC2891992" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypoventilation%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 (246)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37828049">Hirschsprung disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montalva L,
|
||
Cheng LS,
|
||
Kapur R,
|
||
Langer JC,
|
||
Berrebi D,
|
||
Kyrklund K,
|
||
Pakarinen M,
|
||
de Blaauw I,
|
||
Bonnard A,
|
||
Gosain A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2023 Oct 12;9(1):54.
|
||
doi: 10.1038/s41572-023-00465-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37828049" target="_blank">37828049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32958024">Guidelines for diagnosis and management of congenital central hypoventilation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trang H,
|
||
Samuels M,
|
||
Ceccherini I,
|
||
Frerick M,
|
||
Garcia-Teresa MA,
|
||
Peters J,
|
||
Schoeber J,
|
||
Migdal M,
|
||
Markstrom A,
|
||
Ottonello G,
|
||
Piumelli R,
|
||
Estevao MH,
|
||
Senecic-Cala I,
|
||
Gnidovec-Strazisar B,
|
||
Pfleger A,
|
||
Porto-Abal R,
|
||
Katz-Salamon M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Sep 21;15(1):252.
|
||
doi: 10.1186/s13023-020-01460-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32958024" target="_blank">32958024</a><a href="/pmc/articles/PMC7503443" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32407531">ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvengt J,
|
||
Gernay C,
|
||
Mastouri M,
|
||
Farhat N,
|
||
Lebrethon MC,
|
||
Seghaye MC,
|
||
Bours V</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Jul 1;105(7)
|
||
doi: 10.1210/clinem/dgaa247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32407531" target="_blank">32407531</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31582675">An unusual pacing artifact.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abualsuod A,
|
||
Paydak H,
|
||
Pothineni NV</span><br />
|
||
<span class="medgenPMjournal">Turk Kardiyol Dern Ars</span>
|
||
2019 Oct;47(7):616-618.
|
||
doi: 10.5543/tkda.2018.52386.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31582675" target="_blank">31582675</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23572305">Haddad syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ławicka M,
|
||
Sawicka J,
|
||
Bąkowska G</span><br />
|
||
<span class="medgenPMjournal">Anaesthesiol Intensive Ther</span>
|
||
2013 Jan-Mar;45(1):30-2.
|
||
doi: 10.5603/AIT.2013.0006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23572305" target="_blank">23572305</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypoventilation%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 (368)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39135139">The EBV connection: a severe case of GFAP-A with central hypoventilation unresponsive to IVIG and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang C,
|
||
Zhang H,
|
||
Lu W,
|
||
Zhan Y</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Res</span>
|
||
2024 Aug 13;29(1):415.
|
||
doi: 10.1186/s40001-024-01926-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39135139" target="_blank">39135139</a><a href="/pmc/articles/PMC11320868" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34342072">Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dulski J,
|
||
Cerquera-Cleves C,
|
||
Milanowski L,
|
||
Kidd A,
|
||
Sitek EJ,
|
||
Strongosky A,
|
||
Vanegas Monroy AM,
|
||
Dickson DW,
|
||
Ross OA,
|
||
Pentela-Nowicka J,
|
||
Sławek J,
|
||
Wszolek ZK</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2021 Dec;28(12):4010-4021.
|
||
Epub 2021 Aug 26
|
||
doi: 10.1111/ene.15048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34342072" target="_blank">34342072</a><a href="/pmc/articles/PMC9295182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21801857">Congenital central hypoventilation syndrome and desogestrel: a call for caution: addendum to "C. Straus, H. Trang, M.H. Becquemin, P. Touraine, T. Similowski, Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel" [Respir. Physiol. Neurobiol. 171 (2010) 171-174].</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Straus C,
|
||
Similowski T</span><br />
|
||
<span class="medgenPMjournal">Respir Physiol Neurobiol</span>
|
||
2011 Sep 15;178(2):357-8.
|
||
Epub 2011 Jul 23
|
||
doi: 10.1016/j.resp.2011.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21801857" target="_blank">21801857</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16359292">Cardiovascular abnormalities and arrhythmias in patients with Ondine's curse (congenital central hypoventilation) syndrome.</a></div>
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypoventilation%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 (144)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Goyal A,
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2022 Sep-Oct;70(5):2130-2131.
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doi: 10.4103/0028-3886.359166.
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<span class="bold">PMID: </span><a href="/pubmed/36352621" target="_blank">36352621</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21801857">Congenital central hypoventilation syndrome and desogestrel: a call for caution: addendum to "C. Straus, H. Trang, M.H. Becquemin, P. Touraine, T. Similowski, Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel" [Respir. Physiol. Neurobiol. 171 (2010) 171-174].</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypoventilation%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 (148)</a></div></div>
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|
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/36403185">Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.</a></div>
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Perez IA,
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Ceccherini I,
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Chen ML,
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Kurek KC,
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Yap KL,
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Keens TG,
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Khaytin I,
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Ballard HA,
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Sokol EA,
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Mittal A,
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Rand CM,
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Weese-Mayer DE</span><br />
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Epub 2022 Nov 20
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<span class="bold">PMID: </span><a href="/pubmed/36403185" target="_blank">36403185</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32407531">ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvengt J,
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||
Gernay C,
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||
Mastouri M,
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Farhat N,
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Seghaye MC,
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||
Bours V</span><br />
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||
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2020 Jul 1;105(7)
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doi: 10.1210/clinem/dgaa247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32407531" target="_blank">32407531</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/27918326">Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Maguire MJ,
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Nolan SJ</span><br />
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2016 Jul 19;7(7):CD011792.
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27083568">Evaluating the evidence: is phrenic nerve stimulation a safe and effective tool for decreasing ventilator dependence in patients with high cervical spinal cord injuries and central hypoventilation?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sieg EP,
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Payne RA,
|
||
Hazard S,
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Rizk E</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/27083568" target="_blank">27083568</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypoventilation%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
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