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<meta name="keywords" content="C0522224, finding, inability to move, palsies, palsy, paralyses, paralysis, plegia, plegias, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=105510
|
||
ConceptID=C0522224
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Paralysis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105510</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.">C0522224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Palsies; Palsy; Paralyses; Plegia; Plegias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Paralysis (44695005); Palsy (44695005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003470">HP:0003470</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>
|
||
<div class="portlet_content ln">Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. [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>
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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">Paralysis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><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/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="matched_ds">Paralysis</span><ul><li><span class="TLline"><a href="/medgen/473191" ref="tree=MeSH" title="MedGen record for Brachial Plexus Palsy">Brachial Plexus Palsy</a></span><ul><li><span class="TLline"><a href="/medgen/124376" ref="tree=MeSH" title="MedGen record for Klumpke-Déjerine paralysis">Klumpke-Déjerine paralysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5101" ref="tree=MeSH" title="MedGen record for Facial paralysis">Facial paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/859714" ref="tree=MeSH" title="MedGen record for Acquired Facial Nerve Palsy">Acquired Facial Nerve Palsy</a></span></li><li><span class="TLline"><a href="/medgen/581580" ref="tree=MeSH" title="MedGen record for Congenital facial nerve palsy">Congenital facial nerve palsy</a></span></li><li><span class="TLline"><a href="/medgen/858754" ref="tree=MeSH" title="MedGen record for Facial Nerve Palsy Related to Birth">Facial Nerve Palsy Related to Birth</a></span></li><li><span class="TLline"><a href="/medgen/768724" ref="tree=MeSH" title="MedGen record for Facial Nerve Palsy Related to Trauma">Facial Nerve Palsy Related to Trauma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/101809" ref="tree=MeSH" title="MedGen record for Gastroparesis">Gastroparesis</a></span></li><li><span class="TLline"><a href="/medgen/9196" ref="tree=MeSH" title="MedGen record for Hemiplegia">Hemiplegia</a></span><ul><li><span class="TLline"><a href="/medgen/350828" ref="tree=MeSH" title="MedGen record for Episodic hemiplegia">Episodic hemiplegia</a></span></li><li><span class="TLline"><a href="/medgen/630098" ref="tree=MeSH" title="MedGen record for Left hemiplegia">Left hemiplegia</a></span></li><li><span class="TLline"><a href="/medgen/630097" ref="tree=MeSH" title="MedGen record for Right hemiplegia">Right hemiplegia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45205" ref="tree=MeSH" title="MedGen record for Ophthalmoplegia">Ophthalmoplegia</a></span><ul><li><span class="TLline"><a href="/medgen/57662" ref="tree=MeSH" title="MedGen record for External ophthalmoplegia">External ophthalmoplegia</a></span><ul><li><span class="TLline"><a href="/medgen/870345" ref="tree=MeSH" title="MedGen record for Nonprogressive restrictive external ophthalmoplegia">Nonprogressive restrictive external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/102439" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia">Progressive external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/870469" ref="tree=MeSH" title="MedGen record for Recurrent external ophthalmoplegia">Recurrent external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/400877" ref="tree=MeSH" title="MedGen record for Restrictive external ophthalmoplegia">Restrictive external ophthalmoplegia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137925" ref="tree=MeSH" title="MedGen record for Internal ophthalmoplegia">Internal ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/101820" ref="tree=MeSH" title="MedGen record for Internuclear ophthalmoplegia">Internuclear ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/384479" ref="tree=MeSH" title="MedGen record for Progressive ophthalmoplegia">Progressive ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/21026" ref="tree=MeSH" title="MedGen record for Progressive supranuclear palsy">Progressive supranuclear palsy</a></span><ul><li><span class="TLline"><a href="/medgen/1779597" ref="tree=MeSH" title="MedGen record for Atypical progressive supranuclear palsy syndrome">Atypical progressive supranuclear palsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1640811" ref="tree=MeSH" title="MedGen record for Supranuclear palsy, progressive, 1">Supranuclear palsy, progressive, 1</a></span></li><li><span class="TLline"><a href="/medgen/324446" ref="tree=MeSH" title="MedGen record for Supranuclear palsy, progressive, 2">Supranuclear palsy, progressive, 2</a></span></li><li><span class="TLline"><a href="/medgen/370922" ref="tree=MeSH" title="MedGen record for Supranuclear palsy, progressive, 3">Supranuclear palsy, progressive, 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/452212" ref="tree=MeSH" title="MedGen record for Recurrent painful ophthalmoplegic neuropathy">Recurrent painful ophthalmoplegic neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/235616" ref="tree=MeSH" title="MedGen record for Supranuclear ophthalmoplegia">Supranuclear ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/57604" ref="tree=MeSH" title="MedGen record for Total ophthalmoplegia">Total ophthalmoplegia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/45323" ref="tree=MeSH" title="MedGen record for Paraplegia">Paraplegia</a></span><ul><li><span class="TLline"><a href="/medgen/69225" ref="tree=MeSH" title="MedGen record for Brown-Séquard syndrome">Brown-Séquard syndrome</a></span></li><li><span class="TLline"><a href="/medgen/20882" ref="tree=MeSH" title="MedGen record for Spastic paraplegia">Spastic paraplegia</a></span><ul><li><span class="TLline"><a href="/medgen/344505" ref="tree=MeSH" title="MedGen record for Progressive spastic paraplegia">Progressive spastic paraplegia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/10589" ref="tree=MeSH" title="MedGen record for Paresis">Paresis</a></span><ul><li><span class="TLline"><a href="/medgen/6783" ref="tree=MeSH" title="MedGen record for Hemiparesis">Hemiparesis</a></span></li><li><span class="TLline"><a href="/medgen/113150" ref="tree=MeSH" title="MedGen record for Paraparesis">Paraparesis</a></span><ul><li><span class="TLline"><a href="/medgen/52432" ref="tree=MeSH" title="MedGen record for Spastic paraparesis">Spastic paraparesis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78089" ref="tree=MeSH" title="MedGen record for Paresis of extraocular muscles">Paresis of extraocular muscles</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488958" ref="tree=MeSH" title="MedGen record for Periodic paralysis">Periodic paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/327586" ref="tree=MeSH" title="MedGen record for Andersen Tawil syndrome">Andersen Tawil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/68665" ref="tree=MeSH" title="MedGen record for Hyperkalemic periodic paralysis">Hyperkalemic periodic paralysis</a></span></li><li><span class="TLline"><a href="/medgen/116058" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis">Hypokalemic periodic paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/811387" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis, type 1">Hypokalemic periodic paralysis, type 1</a></span></li><li><span class="TLline"><a href="/medgen/413748" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis, type 2">Hypokalemic periodic paralysis, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867195" ref="tree=MeSH" title="MedGen record for Periodic hypokalemic paresis">Periodic hypokalemic paresis</a></span></li><li><span class="TLline"><a href="/medgen/1670241" ref="tree=MeSH" title="MedGen record for Periodic paralysis with later-onset distal motor neuropathy">Periodic paralysis with later-onset distal motor neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1668303" ref="tree=MeSH" title="MedGen record for Periodic paralysis with transient compartment-like syndrome">Periodic paralysis with transient compartment-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/120639" ref="tree=MeSH" title="MedGen record for Thyrotoxic periodic paralysis">Thyrotoxic periodic paralysis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10989" ref="tree=MeSH" title="MedGen record for Pseudobulbar paralysis">Pseudobulbar paralysis</a></span></li><li><span class="TLline"><a href="/medgen/19748" ref="tree=MeSH" title="MedGen record for Respiratory paralysis">Respiratory paralysis</a></span></li><li><span class="TLline"><a href="/medgen/19617" ref="tree=MeSH" title="MedGen record for Tetraplegia">Tetraplegia</a></span><ul><li><span class="TLline"><a href="/medgen/350829" ref="tree=MeSH" title="MedGen record for Episodic quadriplegia">Episodic quadriplegia</a></span></li><li><span class="TLline"><a href="/medgen/7378" ref="tree=MeSH" title="MedGen record for Locked-in syndrome">Locked-in syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/53047" ref="tree=MeSH" title="MedGen record for Vocal cord paralysis">Vocal cord paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/833874" ref="tree=MeSH" title="MedGen record for Bilateral vocal cord paralysis">Bilateral vocal cord paralysis</a></span></li><li><span class="TLline"><a href="/medgen/155887" ref="tree=MeSH" title="MedGen record for Unilateral vocal cord paralysis">Unilateral vocal cord paralysis</a></span></li><li><span class="TLline"><a href="/medgen/155888" ref="tree=MeSH" title="MedGen record for Vocal cord paresis">Vocal cord paresis</a></span><ul><li><span class="TLline"><a href="/medgen/148345" ref="tree=MeSH" title="MedGen record for Bilateral vocal cord paresis">Bilateral vocal cord paresis</a></span></li><li><span class="TLline"><a href="/medgen/199686" ref="tree=MeSH" title="MedGen record for Unilateral vocal cord paresis">Unilateral vocal cord paresis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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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="divPopper rprt" id="rdis_58118"><div><strong>Variegate porphyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>58118</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.">C0162532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Variegate porphyria (VP) is both a cutaneous porphyria (with chronic blistering skin lesions) and an acute porphyria (with severe episodic neurovisceral symptoms). The most common manifestation of VP is adult-onset cutaneous blistering lesions (subepidermal vesicles, bullae, and erosions that crust over and heal slowly) of sun-exposed skin, especially the hands and face. Other chronic skin findings include milia, scarring, thickening, and areas of decreased and increased skin pigmentation. Facial hyperpigmentation and hypertrichosis may occur. Cutaneous manifestations may improve in winter and be less prevalent in northern regions and in dark-skinned individuals. Acute neurovisceral symptoms can occur any time after puberty, but less often in the elderly. Acute manifestations are highly variable, but may be similar from episode to episode in a person with recurrent attacks; not all manifestations are present in a single episode; and acute symptoms may become chronic. Symptoms are more common in women than men. The most common manifestations are abdominal pain; constipation; pain in the back, chest, and extremities; anxiety; seizures; and a primarily motor neuropathy resulting in muscle weakness that may progress to quadriparesis and respiratory paralysis. Psychiatric disturbances and autonomic neuropathy can also be observed. Acute attacks may be severe and are potentially fatal.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/58118">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_56452"><div><strong>Acute intermittent porphyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56452</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.">C0162565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An acute porphyria attack is characterized by a urine porphobilinogen (PBG)-to-creatinine ratio =10 times the upper limit of normal (ULN) and the presence of =2 porphyria manifestations (involving the visceral, peripheral, autonomic, and/or central nervous systems) persisting for >24 hours in the absence of other likely explanations. Onset of acute attacks typically occurs in the second or third decade of life. Acute attacks are more common in women than men. Although attacks in most individuals are typically caused by exposure to certain endogenous or exogenous factors, often no precipitating factor can be identified. The course of acute porphyria attacks is highly variable in an individual and between individuals. Recovery from acute porphyria attacks may occur within days; however, recovery from severe attacks that are not promptly recognized and treated may take weeks or months. The five categories of acute intermittent porphyria (AIP), caused by a heterozygous HMBS pathogenic variant, are based on the urine PBG-to-creatinine ratio and occurrence of acute attacks. Active (symptomatic) AIP: An individual who has experienced at least one acute attack within the last two years. Symptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years but chronic long-standing manifestations of acute porphyria. Asymptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years and no porphyria-related manifestations. Asymptomatic AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute attacks in the last two years but has had =1 acute attack in the past. Latent (inactive) AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute porphyria-related manifestations to date.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56452">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_60012"><div><strong>Progressive sclerosing poliodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60012</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.">C0205710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/60012">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78657"><div><strong>Tay-Sachs disease, variant AB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78657</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.">C0268275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78657">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78659"><div><strong>Porphobilinogen synthase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78659</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.">C0268328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients (Jaffe and Stith, 2007).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78659">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_75681"><div><strong>Familial hypokalemia-hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75681</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.">C0268450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75681">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_140759"><div><strong>Congenital laryngeal adductor palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140759</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.">C0396060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/140759">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_107775"><div><strong>Amyotrophic lateral sclerosis-parkinsonism-dementia complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107775</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.">C0543859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual. See PARK7 (606324) for discussion of a similar phenotype caused by mutation in the DJ1 gene (602533).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107775">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_322471"><div><strong>Neuronopathy, distal hereditary motor, type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322471</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.">C1834692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal dominant distal hereditary motor neuronopathy-2 (HMND2) is a motor neuron disease without sensory loss with an onset age of 15 to 25 years. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet. The disease progresses to complete paralysis of all distal muscles of the lower extremities. Affected individuals have chronic neurogenic alterations in electromyography (summary by Irobi et al., 2004). Some individuals show changes consistent with myofibrillar myopathy on muscle biopsy (Ghaoui et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/322471">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_327111"><div><strong>Congenital Horner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327111</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.">C1840475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Horner syndrome, resulting from unilateral paralysis of the cervical sympathetics, comprises the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis. Iris heterochromia may also be present (Takanashi et al., 2003).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/327111">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343122"><div><strong>Charcot-Marie-Tooth disease type 4G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343122</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.">C1854449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The Russe type of hereditary motor and sensory neuropathy (HMSNR) is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy (summary by Sevilla et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease, see CMT4A (214400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343122">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355121"><div><strong>Cerebral cavernous malformation 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355121</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.">C1864040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355121">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_382017"><div><strong>Neuronopathy, distal hereditary motor, type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382017</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.">C2608087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal dominant distal hereditary motor neuronopathy-3 (HMND3) is a slowly progressive adult-onset motor neuron disorder without sensory involvement. Weakness and atrophy of distal lower limb muscles begins in the third to sixth decade and progresses to the upper limbs 5 to 10 years later (Houlden et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/382017">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_393582"><div><strong>Primary CD59 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393582</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.">C2676767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal recessive disorder characterized by infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Immunosuppressive treatment may result in some clinical improvement (summary by Nevo et al., 2013).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/393582">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462323"><div><strong>Progressive demyelinating neuropathy with bilateral striatal necrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462323</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.">C3150973</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">SLC25A19-related thiamine metabolism dysfunction (SLC25A19 deficiency) is characterized by two phenotypes: Amish lethal microcephaly and thiamine metabolism dysfunction syndrome 4 (THMD-4). Amish lethal microcephaly is characterized by severe congenital microcephaly, developmental delay, seizures, 2-oxoglutaric aciduria, and often premature death. THMD-4 is characterized by febrile illness-associated episodic encephalopathy, progressive polyneuropathy, and bilateral striatal necrosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462323">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_477090"><div><strong>Amyotrophic lateral sclerosis type 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477090</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.">C3275459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/477090">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_854762"><div><strong>Autosomal recessive congenital ichthyosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854762</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.">C3888093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854762">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_894160"><div><strong>Lethal congenital contracture syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>894160</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.">C4225386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/894160">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645412"><div><strong>Encephalopathy due to GLUT1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645412</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.">C4551966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glucose transporter type 1 deficiency syndrome (Glut1DS) is a disorder of brain energy metabolism. Glucose, the essential metabolic fuel for the brain, is transported into the brain exclusively by the protein glucose transporter type 1 (Glut1) across the endothelial cells forming the blood-brain barrier (BBB). Glut1DS results from the inability of Glut1 to transfer sufficient glucose across the BBB to meet the glucose demands of the brain. The needs of the brain for glucose increase rapidly after birth, peaking in early childhood, remaining high until about age 10 years, then gradually decreasing throughout adolescence and plateauing in early adulthood. When first diagnosed in infancy to early childhood, the predominant clinical findings of Glut1DS are paroxysmal eye-head movements, pharmacoresistant seizures of varying types, deceleration of head growth, and developmental delay. Subsequently children develop complex movement disorders and intellectual disability ranging from mild to severe. Institution of ketogenic diet therapies (KDTs) helps with early neurologic growth and development and seizure control. Typically, the earlier the treatment the better the long-term clinical outcome. When first diagnosed in later childhood to adulthood (occasionally in a parent following the diagnosis of an affected child), the predominant clinical findings of Glut1DS are usually complex paroxysmal movement disorders, spasticity, ataxia, dystonia, speech difficulty, and intellectual disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645412">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute intermittent porphyria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477090" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_107775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis-parkinsonism-dementia complex</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854762" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cavernous malformation 3</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343122" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4G</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_327111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital Horner syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital laryngeal adductor palsy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy due to GLUT1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75681" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypokalemia-hypomagnesemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_894160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal congenital contracture syndrome 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322471" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, type 2A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, type 2B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Porphobilinogen synthase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393582" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary CD59 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462323" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive demyelinating neuropathy with bilateral striatal necrosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_60012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive sclerosing poliodystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tay-Sachs disease, variant AB</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_58118" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Variegate porphyria</a></div></span></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/36848916">Hyperthyroidism: aetiology, pathogenesis, diagnosis, management, complications, and prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wiersinga WM,
|
||
Poppe KG,
|
||
Effraimidis G</span><br />
|
||
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
|
||
2023 Apr;11(4):282-298.
|
||
Epub 2023 Feb 24
|
||
doi: 10.1016/S2213-8587(23)00005-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36848916" target="_blank">36848916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31324898">Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bassetti CLA,
|
||
Adamantidis A,
|
||
Burdakov D,
|
||
Han F,
|
||
Gay S,
|
||
Kallweit U,
|
||
Khatami R,
|
||
Koning F,
|
||
Kornum BR,
|
||
Lammers GJ,
|
||
Liblau RS,
|
||
Luppi PH,
|
||
Mayer G,
|
||
Pollmächer T,
|
||
Sakurai T,
|
||
Sallusto F,
|
||
Scammell TE,
|
||
Tafti M,
|
||
Dauvilliers Y</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2019 Sep;15(9):519-539.
|
||
Epub 2019 Jul 19
|
||
doi: 10.1038/s41582-019-0226-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31324898" target="_blank">31324898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24189771">Clinical practice guideline: Bell's palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baugh RF,
|
||
Basura GJ,
|
||
Ishii LE,
|
||
Schwartz SR,
|
||
Drumheller CM,
|
||
Burkholder R,
|
||
Deckard NA,
|
||
Dawson C,
|
||
Driscoll C,
|
||
Gillespie MB,
|
||
Gurgel RK,
|
||
Halperin J,
|
||
Khalid AN,
|
||
Kumar KA,
|
||
Micco A,
|
||
Munsell D,
|
||
Rosenbaum S,
|
||
Vaughan W</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2013 Nov;149(3 Suppl):S1-27.
|
||
doi: 10.1177/0194599813505967.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24189771" target="_blank">24189771</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22paralysis%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 (1251)</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/37001932">Reducing Risk in Facial Reanimation Surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pham TB,
|
||
Greene JJ</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2023 May;31(2):297-305.
|
||
Epub 2023 Feb 26
|
||
doi: 10.1016/j.fsc.2023.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37001932" target="_blank">37001932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35119093">Thyrotoxic myopathy: research status, diagnosis, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cui H,
|
||
Zhang X</span><br />
|
||
<span class="medgenPMjournal">Endokrynol Pol</span>
|
||
2022;73(1):157-162.
|
||
Epub 2022 Feb 4
|
||
doi: 10.5603/EP.a2022.0004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35119093" target="_blank">35119093</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28735779">A systematic review of variables associated with sleep paralysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denis D,
|
||
French CC,
|
||
Gregory AM</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2018 Apr;38:141-157.
|
||
Epub 2017 Jun 8
|
||
doi: 10.1016/j.smrv.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28735779" target="_blank">28735779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26042960">A Contemporary Approach to Facial Reanimation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jowett N,
|
||
Hadlock TA</span><br />
|
||
<span class="medgenPMjournal">JAMA Facial Plast Surg</span>
|
||
2015 Jul-Aug;17(4):293-300.
|
||
doi: 10.1001/jamafacial.2015.0399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26042960" target="_blank">26042960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9577318">Obstetrical brachial palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kay SP</span><br />
|
||
<span class="medgenPMjournal">Br J Plast Surg</span>
|
||
1998 Jan;51(1):43-50.
|
||
doi: 10.1054/bjps.1997.0166.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9577318" target="_blank">9577318</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paralysis%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 (13517)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38368058">Recurrent Isolated Sleep Paralysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stefani A,
|
||
Tang Q</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Clin</span>
|
||
2024 Mar;19(1):101-109.
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<div class="nl"><a target="_blank" href="/pubmed/30916916">Give me a kiss! An integrative rehabilitative training program with motor imagery and mirror therapy for recovery of facial palsy.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37955871">Incidence and prognosis of contralateral vocal fold paralysis after hemithyroidectomy in previously unoperated patients.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35722671">The "Mirror Effect Plus Protocol" for acute Bell's palsy: A randomized controlled trial with 1-year follow-up.</a></div>
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Piette E,
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<span class="bold">PMID: </span><a href="/pubmed/35722671" target="_blank">35722671</a><a href="/pmc/articles/PMC9420890" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35619710">Advances in Immune Monitoring Approaches for Sepsis-Induced Immunosuppression.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yao RQ,
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<div class="nl"><a target="_blank" href="/pubmed/17426195">Methylprednisolone infusion in early severe ARDS: results of a randomized controlled trial.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paralysis%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 (8626)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31488315">Does Dysphagia Improve Following Laryngeal Reinnervation for Treatment of Hoarseness in Unilateral Vocal Fold Paralysis?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vrabec JT,
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Backous DD,
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<span class="bold">PMID: </span><a href="/pubmed/19328328" target="_blank">19328328</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paralysis%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 (7849)</a></div></div>
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||
</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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37149416">Physical therapy for peripheral facial palsy: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nakano H,
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Fujiwara T,
|
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Tsujimoto Y,
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Morishima N,
|
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Kasahara T,
|
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Ameya M,
|
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Tachibana K,
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Sanada S,
|
||
Toufukuji S,
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||
Hato N</span><br />
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<span class="medgenPMjournal">Auris Nasus Larynx</span>
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2024 Feb;51(1):154-160.
|
||
Epub 2023 May 4
|
||
doi: 10.1016/j.anl.2023.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37149416" target="_blank">37149416</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35787015">Physical therapy for facial nerve paralysis (Bell's palsy): An updated and extended systematic review of the evidence for facial exercise therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AJ,
|
||
Szczepura A,
|
||
Palmer S,
|
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Bark C,
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Neville C,
|
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Thomson D,
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Martin H,
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Nduka C</span><br />
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<span class="medgenPMjournal">Clin Rehabil</span>
|
||
2022 Nov;36(11):1424-1449.
|
||
Epub 2022 Jul 5
|
||
doi: 10.1177/02692155221110727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35787015" target="_blank">35787015</a><a href="/pmc/articles/PMC9510940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32743989">Acute Peripheral Facial Palsy: Recent Guidelines and a Systematic Review of the Literature.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim SJ,
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Lee HY</span><br />
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<span class="medgenPMjournal">J Korean Med Sci</span>
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2020 Aug 3;35(30):e245.
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doi: 10.3346/jkms.2020.35.e245.
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<span class="bold">PMID: </span><a href="/pubmed/32743989" target="_blank">32743989</a><a href="/pmc/articles/PMC7402921" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28735779">A systematic review of variables associated with sleep paralysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denis D,
|
||
French CC,
|
||
Gregory AM</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2018 Apr;38:141-157.
|
||
Epub 2017 Jun 8
|
||
doi: 10.1016/j.smrv.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28735779" target="_blank">28735779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24717284">Bell's palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holland NJ,
|
||
Bernstein JM</span><br />
|
||
<span class="medgenPMjournal">BMJ Clin Evid</span>
|
||
2014 Apr 9;2014
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||
<span class="bold">PMID: </span><a href="/pubmed/24717284" target="_blank">24717284</a><a href="/pmc/articles/PMC3980711" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paralysis%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 (505)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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|
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|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Paralysis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(%22paralysis%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(%22Paralysis%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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