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<!--
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||
UID=1635612
|
||
ConceptID=C4551761
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Excessive daytime somnolence</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635612</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.">C4551761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Excessive daytime sleepiness</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:0001262">HP:0001262</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A state of abnormally strong desire for sleep during the daytime. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
|
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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="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Excessive daytime somnolence</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/482519" ref="tree=MeSH" title="MedGen record for Reduced consciousness">Reduced consciousness</a></span><ul><li><span class="matched_ds">Excessive daytime somnolence</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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">
|
||
<div class="divPopper rprt" id="rdis_18472"><div><strong>Extreme obesity with alveolar hypoventilation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18472</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.">C0031880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18472">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_46057"><div><strong>Prader-Willi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46057</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.">C0032897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone). A distinctive behavioral phenotype (temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Characteristic facial features, strabismus, and scoliosis are often present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/46057">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78692"><div><strong>Deficiency of hydroxymethylglutaryl-CoA lyase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78692</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.">C0268601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by Gibson et al., 1988).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78692">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90999"><div><strong>Renal carnitine transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90999</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.">C0342788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary carnitine deficiency (PCD) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. If untreated, it encompasses a broad clinical spectrum including: (1) metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis; (2) childhood myopathy involving heart and skeletal muscle with onset between age two and four years; (3) pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia; (4) fatigability in adulthood; and (5) absence of symptoms. The latter two categories often include mothers diagnosed with PCD after newborn screening has identified low carnitine levels in their infants.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90999">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83353"><div><strong>Dihydropyrimidinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83353</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.">C0342803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dihydropyrimidinase deficiency (DPYSD) is an autosomal recessive disease characterized by the presence of dihydropyrimidinuria. The clinical phenotype is highly variable, ranging from early infantile onset of severe neurologic involvement, dysmorphic features, and feeding problems to late onset of mild intellectual disability and even asymptomatic individuals. Patients with a complete or partial deficiency have an increased risk of developing severe toxicity after administration of the anticancer drug 5-fluorouracil (5-FU) (summary by Nakajima et al., 2017). See also dihydropyrimidine dehydrogenase deficiency (274270), a similar disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83353">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_101045"><div><strong>Obstructive sleep apnea syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101045</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.">C0520679</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_209234"><div><strong>6-Pyruvoyl-tetrahydrobiopterin synthase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209234</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.">C0878676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH; 612349), tyrosine hydroxylase (TH; 191290) and tryptophan hydroxylase (TPH1; 191060), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001). HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (233910), caused by mutation in the GCH1 gene (600225), HPABH4C (261630), caused by mutation in the QDPR gene (612676), and HPABH4D (264070), caused by mutation in the PCBD1 gene (126090). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU; 261600), caused by mutation in the PAH gene. Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (612716), caused by mutation in the SPR gene (182125), and autosomal dominant dopa-responsive dystonia (DYT5; 128230), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209234">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371809"><div><strong>Narcolepsy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371809</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.">C1834372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Adie (1926) first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal. In contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype (Peyron et al., 2000). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) (Mignot, 1998). Genetic Heterogeneity of Narcolepsy Additional narcolepsy loci have been mapped to chromosomes 4 (NRCLP2; 605841), 21q (NRCLP3; 609039), 22q13 (NRCLP4; 612417), 14q11 (NRCLP5; 612851), and 19p13.2 (NRCLP6; 614223). NRCLP7 (614250) is caused by mutation in the MOG gene (159465) on chromosome 6p22. Resistance to narcolepsy is associated with minor alleles of a SNP and a marker in the NLC1A gene (610259) on chromosome 21q22.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/371809">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332320"><div><strong>Narcolepsy 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332320</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.">C1836907</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.\n\nNarcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.\n\nAnother common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.\n\nSome people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.\n\nNarcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/332320">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338613"><div><strong>Infantile onset spinocerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338613</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.">C1849096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-7 is an autosomal recessive severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Although originally classified as a form of spinocerebellar ataxia (see, e.g., SCA1, 164400) (Koskinen et al., 1994), it has been reclassified as a mitochondrial DNA depletion syndrome (Hakonen et al., 2008) based on the finding of mtDNA depletion in the brain and liver of affected individuals. For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338613">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_886881"><div><strong>Steinert myotonic dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>886881</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.">C3250443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/886881">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481515"><div><strong>Hereditary sensory neuropathy-deafness-dementia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481515</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.">C3279885</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DNMT1-related disorder is a degenerative disorder of the central and peripheral nervous systems comprising a phenotypic spectrum that includes hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). DNMT1 disorder is often characterized by moderate-to-severe sensorineural hearing loss beginning in the teens or early 20s, sensory impairment, sudomotor dysfunction (loss of sweating), and dementia usually beginning in the mid-40s. In some affected individuals, narcolepsy/cataplexy syndrome and ataxia are predominant findings.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481515">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_481896"><div><strong>Narcolepsy 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481896</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.">C3280266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Narcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.\n\nSome people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.\n\nAnother common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.\n\nNarcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.\n\nNarcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481896">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_813625"><div><strong>Autosomal dominant cerebellar ataxia, deafness and narcolepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813625</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.">C3807295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">ADCADN is an autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy/cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression (summary by Winkelmann et al., 2012).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/813625">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_924974"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924974</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.">C4284790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A) Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (613150), caused by mutation in the POMT2 gene (607439); MDDGA3 (253280), caused by mutation in the POMGNT1 gene (606822); MDDGA4 (253800), caused by mutation in the FKTN gene (607440); MDDGA5 (613153), caused by mutation in the FKRP gene (606596); MDDGA6 (613154), caused by mutation in the LARGE gene (603590); MDDGA7 (614643), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGA8 (614830) caused by mutation in the GTDC2 gene (POMGNT2; 614828); MDDGA9 (616538), caused by mutation in the DAG1 gene (128239); MDDGA10 (615041), caused by mutation in the TMEM5 gene (RXYLT1; 605862); MDDGA11 (615181), caused by mutation in the B3GALNT2 gene (610194); MDDGA12 (615249), caused by mutation in the SGK196 gene (POMK; 615247); MDDGA13 (615287), caused by mutation in the B3GNT1 gene (B4GAT1; 605517); and MDDGA14 (615350), caused by mutation in the GMPPB gene (615320).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/924974">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1615839"><div><strong>Intellectual disability, autosomal dominant 52</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615839</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.">C4540478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1615839">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_209234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">6-Pyruvoyl-tetrahydrobiopterin synthase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813625" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant cerebellar ataxia, deafness and narcolepsy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of hydroxymethylglutaryl-CoA lyase</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83353" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dihydropyrimidinase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Extreme obesity with alveolar hypoventilation</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary sensory neuropathy-deafness-dementia syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile onset spinocerebellar ataxia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 52</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924974" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narcolepsy 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narcolepsy 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narcolepsy 7</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_101045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Obstructive sleep apnea syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_46057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prader-Willi syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal carnitine transport defect</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_886881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Steinert myotonic dystrophy syndrome</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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||
<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>
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||
<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>
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<div class="nl"><a target="_blank" href="/pubmed/38466992">Assessment and Management of Sleep Disturbance in Palliative Care Settings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jeon MS,
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Allcroft P,
|
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Brown LR,
|
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Currow D,
|
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Kochovska S,
|
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Krishnan A,
|
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Webster A,
|
||
Campbell R</span><br />
|
||
<span class="medgenPMjournal">J Palliat Med</span>
|
||
2024 Jul;27(7):905-911.
|
||
Epub 2024 Mar 12
|
||
doi: 10.1089/jpm.2023.0537.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38466992" target="_blank">38466992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31215815">Solriamfetol for the treatment of excessive daytime sleepiness associated with narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang J,
|
||
Gao J</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
|
||
2019 Aug;12(8):723-728.
|
||
Epub 2019 Jun 19
|
||
doi: 10.1080/17512433.2019.1632705.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31215815" target="_blank">31215815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25074415">Pharmacological management of narcolepsy and cataplexy in pediatric patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lecendreux M</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2014 Oct;16(5):363-72.
|
||
doi: 10.1007/s40272-014-0083-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25074415" target="_blank">25074415</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22excessive%20daytime%20somnolence%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 (10)</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/32869676">Safety considerations when using non-ergot dopamine agonists to treat Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stocchi F,
|
||
Fossati B,
|
||
Torti M</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Drug Saf</span>
|
||
2020 Sep;19(9):1155-1172.
|
||
Epub 2020 Oct 3
|
||
doi: 10.1080/14740338.2020.1804550.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32869676" target="_blank">32869676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8657099">Use of modafinil in the treatment of narcolepsy: a long term follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Besset A,
|
||
Chetrit M,
|
||
Carlander B,
|
||
Billiard M</span><br />
|
||
<span class="medgenPMjournal">Neurophysiol Clin</span>
|
||
1996;26(1):60-6.
|
||
doi: 10.1016/0987-7053(96)81535-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8657099" target="_blank">8657099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9363086">Epidemiology of obstructive sleep apnea syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Partinen M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pulm Med</span>
|
||
1995 Nov;1(6):482-7.
|
||
doi: 10.1097/00063198-199511000-00009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9363086" target="_blank">9363086</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8304260">Sleep apnea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">ten Brock E,
|
||
Shucard DW</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
1994 Feb 1;49(2):385-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8304260" target="_blank">8304260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3920571">Excessive daytime somnolence. A series of 100 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCarty GE,
|
||
Holmes MD</span><br />
|
||
<span class="medgenPMjournal">Mil Med</span>
|
||
1985 Mar;150(3):138-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3920571" target="_blank">3920571</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Excessive%20daytime%20somnolence%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 (104)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33754217">Sleep Disorders in Patients with Essential Tremor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiménez-Jiménez FJ,
|
||
Alonso-Navarro H,
|
||
García-Martín E,
|
||
Agúndez JAG</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2021 Mar 22;21(5):23.
|
||
doi: 10.1007/s11910-021-01109-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33754217" target="_blank">33754217</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32172472">Mastering nocturnal jigsaws in Parkinson's disease: a dusk-to-dawn review of night-time symptoms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhidayasiri R,
|
||
Sringean J,
|
||
Trenkwalder C</span><br />
|
||
<span class="medgenPMjournal">J Neural Transm (Vienna)</span>
|
||
2020 May;127(5):763-777.
|
||
Epub 2020 Mar 14
|
||
doi: 10.1007/s00702-020-02170-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32172472" target="_blank">32172472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26972033">Sleep in Neuromuscular Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fermin AM,
|
||
Afzal U,
|
||
Culebras A</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Clin</span>
|
||
2016 Mar;11(1):53-64.
|
||
Epub 2016 Jan 9
|
||
doi: 10.1016/j.jsmc.2015.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26972033" target="_blank">26972033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16182083">Sleep apnea in the elderly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groth M</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2005 Nov;21(4):701-12, vi.
|
||
doi: 10.1016/j.cger.2005.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16182083" target="_blank">16182083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14673890">REM behavior disorder and excessive daytime somnolence in Machado-Joseph disease (SCA-3).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman JH,
|
||
Fernandez HH,
|
||
Sudarsky LR</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2003 Dec;18(12):1520-2.
|
||
doi: 10.1002/mds.10590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14673890" target="_blank">14673890</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Excessive%20daytime%20somnolence%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 (103)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32869676">Safety considerations when using non-ergot dopamine agonists to treat Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stocchi F,
|
||
Fossati B,
|
||
Torti M</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Drug Saf</span>
|
||
2020 Sep;19(9):1155-1172.
|
||
Epub 2020 Oct 3
|
||
doi: 10.1080/14740338.2020.1804550.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32869676" target="_blank">32869676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31215815">Solriamfetol for the treatment of excessive daytime sleepiness associated with narcolepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang J,
|
||
Gao J</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Clin Pharmacol</span>
|
||
2019 Aug;12(8):723-728.
|
||
Epub 2019 Jun 19
|
||
doi: 10.1080/17512433.2019.1632705.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31215815" target="_blank">31215815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8657099">Use of modafinil in the treatment of narcolepsy: a long term follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Besset A,
|
||
Chetrit M,
|
||
Carlander B,
|
||
Billiard M</span><br />
|
||
<span class="medgenPMjournal">Neurophysiol Clin</span>
|
||
1996;26(1):60-6.
|
||
doi: 10.1016/0987-7053(96)81535-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8657099" target="_blank">8657099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3941791">Paroxysmal awakenings from sleep associated with excessive daytime somnolence: a form of nocturnal epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peled R,
|
||
Lavie P</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1986 Jan;36(1):95-8.
|
||
doi: 10.1212/wnl.36.1.95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3941791" target="_blank">3941791</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7034220">Sleep apnea syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaudhary BA,
|
||
Speir WA Jr</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1982 Jan;75(1):39-45.
|
||
doi: 10.1097/00007611-198201000-00011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7034220" target="_blank">7034220</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Excessive%20daytime%20somnolence%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 (51)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22886768">Clinical assessment of pediatric obstructive sleep apnea: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Certal V,
|
||
Catumbela E,
|
||
Winck JC,
|
||
Azevedo I,
|
||
Teixeira-Pinto A,
|
||
Costa-Pereira A</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2012 Sep;122(9):2105-14.
|
||
Epub 2012 Aug 9
|
||
doi: 10.1002/lary.23465.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22886768" target="_blank">22886768</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20308752">Surgical treatment of snoring & obstructive sleep apnoea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ephros HD,
|
||
Madani M,
|
||
Yalamanchili SC</span><br />
|
||
<span class="medgenPMjournal">Indian J Med Res</span>
|
||
2010 Feb;131:267-76.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20308752" target="_blank">20308752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16175159">The neuropsychiatry of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lauterbach EC</span><br />
|
||
<span class="medgenPMjournal">Minerva Med</span>
|
||
2005 Jun;96(3):155-73.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16175159" target="_blank">16175159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8657099">Use of modafinil in the treatment of narcolepsy: a long term follow-up study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Besset A,
|
||
Chetrit M,
|
||
Carlander B,
|
||
Billiard M</span><br />
|
||
<span class="medgenPMjournal">Neurophysiol Clin</span>
|
||
1996;26(1):60-6.
|
||
doi: 10.1016/0987-7053(96)81535-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8657099" target="_blank">8657099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1478023">Respiration during sleep in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feinsilver SH,
|
||
Hertz G</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
1992 Dec;13(4):637-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1478023" target="_blank">1478023</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Excessive%20daytime%20somnolence%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 (40)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37269451">Sleep Disorders in Patients with Choreic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiménez-Jiménez FJ,
|
||
Alonso-Navarro H,
|
||
García-Martín E,
|
||
Agúndez JAG</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2023 Jul;23(7):361-379.
|
||
Epub 2023 Jun 3
|
||
doi: 10.1007/s11910-023-01274-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37269451" target="_blank">37269451</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32163585">Sleep disorders in essential tremor: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiménez-Jiménez FJ,
|
||
Alonso-Navarro H,
|
||
García-Martín E,
|
||
Agúndez JAG</span><br />
|
||
<span class="medgenPMjournal">Sleep</span>
|
||
2020 Sep 14;43(9)
|
||
doi: 10.1093/sleep/zsaa039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32163585" target="_blank">32163585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18795971">Obstructive sleep apnoea-hypopnoea syndrome presenting in the neurology clinic: a prospective 5-year study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim R,
|
||
Larner AJ</span><br />
|
||
<span class="medgenPMjournal">Int J Clin Pract</span>
|
||
2008 Dec;62(12):1886-8.
|
||
Epub 2008 Sep 15
|
||
doi: 10.1111/j.1742-1241.2008.01894.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18795971" target="_blank">18795971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14673890">REM behavior disorder and excessive daytime somnolence in Machado-Joseph disease (SCA-3).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman JH,
|
||
Fernandez HH,
|
||
Sudarsky LR</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2003 Dec;18(12):1520-2.
|
||
doi: 10.1002/mds.10590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14673890" target="_blank">14673890</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1478023">Respiration during sleep in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feinsilver SH,
|
||
Hertz G</span><br />
|
||
<span class="medgenPMjournal">Clin Chest Med</span>
|
||
1992 Dec;13(4):637-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1478023" target="_blank">1478023</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Excessive%20daytime%20somnolence%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 (85)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32163585">Sleep disorders in essential tremor: systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiménez-Jiménez FJ,
|
||
Alonso-Navarro H,
|
||
García-Martín E,
|
||
Agúndez JAG</span><br />
|
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<span class="medgenPMjournal">Sleep</span>
|
||
2020 Sep 14;43(9)
|
||
doi: 10.1093/sleep/zsaa039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32163585" target="_blank">32163585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28013207">An investigation into the prevalence of sleep disturbances in primary Sjögren's syndrome: a systematic review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hackett KL,
|
||
Gotts ZM,
|
||
Ellis J,
|
||
Deary V,
|
||
Rapley T,
|
||
Ng WF,
|
||
Newton JL,
|
||
Deane KHO</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2017 Apr 1;56(4):570-580.
|
||
doi: 10.1093/rheumatology/kew443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28013207" target="_blank">28013207</a><a href="/pmc/articles/PMC5410987" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24819480">COMT gene and risk for Parkinson's disease: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiménez-Jiménez FJ,
|
||
Alonso-Navarro H,
|
||
García-Martín E,
|
||
Agúndez JA</span><br />
|
||
<span class="medgenPMjournal">Pharmacogenet Genomics</span>
|
||
2014 Jul;24(7):331-9.
|
||
doi: 10.1097/FPC.0000000000000056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24819480" target="_blank">24819480</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/22886768">Clinical assessment of pediatric obstructive sleep apnea: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Certal V,
|
||
Catumbela E,
|
||
Winck JC,
|
||
Azevedo I,
|
||
Teixeira-Pinto A,
|
||
Costa-Pereira A</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2012 Sep;122(9):2105-14.
|
||
Epub 2012 Aug 9
|
||
doi: 10.1002/lary.23465.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22886768" target="_blank">22886768</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Excessive%20daytime%20somnolence%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 (4)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22excessive%20daytime%20somnolence%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(%22Excessive%20daytime%20somnolence%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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