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<meta name="keywords" content="C1838319, archaic reflex, finding, primitive reflex, primitive reflexes, primitive reflexes (palmomental, snout, glabellar), 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="The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=333065
|
||
ConceptID=C1838319
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Primitive reflex</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333065</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.">C1838319</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Primitive reflexes (palmomental, snout, glabellar)</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:0002476">HP:0002476</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">The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. [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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838319[DISCUI]&test_type=Clinical" ref="ncbi_uid=333065">C</a></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">Primitive reflex</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/10113" ref="tree=MeSH" title="MedGen record for Movement disorder">Movement disorder</a></span><ul><li><span class="TLline"><a href="/medgen/19707" ref="tree=MeSH" title="MedGen record for Abnormal reflex">Abnormal reflex</a></span><ul><li><span class="matched_ds">Primitive reflex</span><ul><li><span class="TLline"><a href="/medgen/927587" ref="tree=MeSH" title="MedGen record for Glabellar reflex">Glabellar reflex</a></span></li><li><span class="TLline"><a href="/medgen/115944" ref="tree=MeSH" title="MedGen record for Grasp reflex">Grasp reflex</a></span></li><li><span class="TLline"><a href="/medgen/155866" ref="tree=MeSH" title="MedGen record for Palmomental reflex">Palmomental reflex</a></span></li><li><span class="TLline"><a href="/medgen/1696755" ref="tree=MeSH" title="MedGen record for Persistent asymmetrical tonic neck reflex">Persistent asymmetrical tonic neck reflex</a></span></li><li><span class="TLline"><a href="/medgen/537036" ref="tree=MeSH" title="MedGen record for Snout reflex">Snout reflex</a></span></li><li><span class="TLline"><a href="/medgen/65864" ref="tree=MeSH" title="MedGen record for Suck reflex">Suck reflex</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_116020"><div><strong>Pick disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116020</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.">C0236642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116020">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78657">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83266"><div><strong>Frontotemporal dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83266</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.">C0338451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In general, frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of Tauopathies Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy. Other neurodegenerative disorders associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104). Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also collectively been termed 'FTDP17' (Lee et al., 2001). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar Degeneration Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTD2 (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTDALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21. In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83266">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_163206"><div><strong>Marden-Walker syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163206</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.">C0796033</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Marden-Walker syndrome (MWKS) is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis, and joint contractures. Other features may include Dandy-Walker malformation with hydrocephalus and vertebral abnormalities (summary by Schrander-Stumpel et al., 1993). There are 2 distal arthrogryposis syndromes with features overlapping those of Marden-Walker syndrome that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and distal arthrogryposis type 5 (DA5; 108145), which are distinguished by the presence of cleft palate and ocular abnormalities, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/163206">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343325"><div><strong>Mast syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343325</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.">C1855346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Mast syndrome (MASTS) is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish (summary by Simpson et al., 2003). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343325">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_357007"><div><strong>Perry syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357007</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1868594</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/357007">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481833"><div><strong>Warburg micro syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481833</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.">C3280203</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/481833">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_767230"><div><strong>Developmental and epileptic encephalopathy, 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767230</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.">C3554316</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/767230">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811566"><div><strong>Neuronal ceroid lipofuscinosis 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811566</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.">C3715049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Neuronal ceroid lipofuscinosis-13 (CLN13) is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013). Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease (see 204300). In a review of the classification of CLN disease, Gardner and Mole (2021) noted that the CLN13 phenotype corresponds to 'Kufs type B', which is characterized by dementia and a variety of motor signs (Smith et al., 2013). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (256730).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811566">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_1648386"><div><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648386</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.">C4721893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can be divided into four stages: 1.. The latent stage is characterized by normal early development. 2.. The osseous stage (3rd decade of life) is characterized by pain and tenderness, mostly in ankles and feet, usually following strain or injury. Fractures are typically diagnosed several years later, most commonly in the bones of the extremities. 3.. In the early neurologic stage (4th decade of life), a change of personality begins to develop insidiously. Affected individuals show a frontal lobe syndrome (loss of judgment, euphoria, loss of social inhibitions, disturbance of concentration, and lack of insight, libido, and motor persistence) leading to serious social issues. 4.. The late neurologic stage is characterized by progressive dementia and loss of mobility. Death usually occurs before age 50 years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648386">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648374"><div><strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648374</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.">C4748657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years (summary by Klunemann et al., 2005). For a discussion of genetic heterogeneity of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, see 221770.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648374">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1648466"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648466</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.">C4748737</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/1648466">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1682844"><div><strong>Congenital muscular dystrophy with intellectual disability and severe epilepsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1682844</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.">C5190603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1682844">Condition Record</a></div></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_1682844" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital muscular dystrophy with intellectual disability and severe epilepsy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767230" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 15</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontotemporal dementia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163206" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marden-Walker syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', 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_343325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mast syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 13</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357007" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perry syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pick disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648374" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2</a></div>
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Warburg micro syndrome 3</a></div></span></div></div>
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</div>
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<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/26531285">Influence of one-year neurologic outcome of treatment on newborns with moderate and severe hypoxic-ischemic encephalopathy by rhuEP0 combined with ganglioside (GM1).</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu XY,
|
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Ye MY,
|
||
Zhang AM,
|
||
Wang WD,
|
||
Zeng F,
|
||
Li JL,
|
||
Fang F</span><br />
|
||
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
|
||
2015 Oct;19(20):3955-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26531285" target="_blank">26531285</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8534280">Prospective follow-up of primitive reflex profiles in high-risk infants: clues to an early diagnosis of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafeiriou DI,
|
||
Tsikoulas IG,
|
||
Kremenopoulos GM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1995 Sep;13(2):148-52.
|
||
doi: 10.1016/0887-8994(95)00143-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8534280" target="_blank">8534280</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22primitive%20reflex%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 (2)</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/39168782">Cerebral palsy in children: A clinical practice review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel DR,
|
||
Bovid KM,
|
||
Rausch R,
|
||
Ergun-Longmire B,
|
||
Goetting M,
|
||
Merrick J</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2024 Nov;54(11):101673.
|
||
Epub 2024 Aug 20
|
||
doi: 10.1016/j.cppeds.2024.101673.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39168782" target="_blank">39168782</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28709767">Obstetrical Brachial Plexus Palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Berry P,
|
||
Brown M,
|
||
Phillips L,
|
||
Evans SH</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2017 Jul;47(7):151-155.
|
||
Epub 2017 Jul 12
|
||
doi: 10.1016/j.cppeds.2017.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28709767" target="_blank">28709767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16930372">Primitive reflex evaluation in the clinical assessment of extrapyramidal syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borroni B,
|
||
Broli M,
|
||
Costanzi C,
|
||
Gipponi S,
|
||
Gilberti N,
|
||
Agosti C,
|
||
Padovani A</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2006 Sep;13(9):1026-8.
|
||
doi: 10.1111/j.1468-1331.2006.01404.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16930372" target="_blank">16930372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10082338">Clinical significance of plantar grasp response in infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Futagi Y,
|
||
Suzuki Y,
|
||
Goto M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1999 Feb;20(2):111-5.
|
||
doi: 10.1016/s0887-8994(98)00103-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10082338" target="_blank">10082338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8831878">Gait disturbance in Alzheimer's disease: a clinical study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Keeffe ST,
|
||
Kazeem H,
|
||
Philpott RM,
|
||
Playfer JR,
|
||
Gosney M,
|
||
Lye M</span><br />
|
||
<span class="medgenPMjournal">Age Ageing</span>
|
||
1996 Jul;25(4):313-6.
|
||
doi: 10.1093/ageing/25.4.313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8831878" target="_blank">8831878</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primitive%20reflex%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 (39)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28759492">Chronic Hiccups: An Underestimated Problem.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohse EK,
|
||
Hollmann MW,
|
||
Bardenheuer HJ,
|
||
Kessler J</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2017 Oct;125(4):1169-1183.
|
||
doi: 10.1213/ANE.0000000000002289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28759492" target="_blank">28759492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28709767">Obstetrical Brachial Plexus Palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Berry P,
|
||
Brown M,
|
||
Phillips L,
|
||
Evans SH</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2017 Jul;47(7):151-155.
|
||
Epub 2017 Jul 12
|
||
doi: 10.1016/j.cppeds.2017.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28709767" target="_blank">28709767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16930372">Primitive reflex evaluation in the clinical assessment of extrapyramidal syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borroni B,
|
||
Broli M,
|
||
Costanzi C,
|
||
Gipponi S,
|
||
Gilberti N,
|
||
Agosti C,
|
||
Padovani A</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2006 Sep;13(9):1026-8.
|
||
doi: 10.1111/j.1468-1331.2006.01404.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16930372" target="_blank">16930372</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6734954">Primitive reflex profile: a quantitation of primitive reflexes in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Capute AJ,
|
||
Palmer FB,
|
||
Shapiro BK,
|
||
Wachtel RC,
|
||
Ross A,
|
||
Accardo PJ</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1984 Jun;26(3):375-83.
|
||
doi: 10.1111/j.1469-8749.1984.tb04456.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6734954" target="_blank">6734954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4303799">Primitive reflex activity in primary and symptomatic Parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearce J,
|
||
Aziz H,
|
||
Gallagher JC</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1968 Oct;31(5):501-8.
|
||
doi: 10.1136/jnnp.31.5.501.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4303799" target="_blank">4303799</a><a href="/pmc/articles/PMC496408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primitive%20reflex%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 (38)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28759492">Chronic Hiccups: An Underestimated Problem.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kohse EK,
|
||
Hollmann MW,
|
||
Bardenheuer HJ,
|
||
Kessler J</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2017 Oct;125(4):1169-1183.
|
||
doi: 10.1213/ANE.0000000000002289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28759492" target="_blank">28759492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28709767">Obstetrical Brachial Plexus Palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Berry P,
|
||
Brown M,
|
||
Phillips L,
|
||
Evans SH</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2017 Jul;47(7):151-155.
|
||
Epub 2017 Jul 12
|
||
doi: 10.1016/j.cppeds.2017.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28709767" target="_blank">28709767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23574923">Early clinical signs in neonates with hypoxic ischemic encephalopathy predict an abnormal amplitude-integrated electroencephalogram at age 6 hours.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horn AR,
|
||
Swingler GH,
|
||
Myer L,
|
||
Linley LL,
|
||
Raban MS,
|
||
Joolay Y,
|
||
Harrison MC,
|
||
Chandrasekaran M,
|
||
Rhoda NR,
|
||
Robertson NJ</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2013 Apr 10;13:52.
|
||
doi: 10.1186/1471-2431-13-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23574923" target="_blank">23574923</a><a href="/pmc/articles/PMC3635928" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17275658">A stereotypic "elbowing" movement, a possible new primitive reflex in newborns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saraga M,
|
||
Resić B,
|
||
Krnić D,
|
||
Jelavić T,
|
||
Krnić D,
|
||
Sinovcić I,
|
||
Tomasović M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2007 Feb;36(2):84-7.
|
||
doi: 10.1016/j.pediatrneurol.2006.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17275658" target="_blank">17275658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6637936">Infant walkers and cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holm VA,
|
||
Harthun-Smith L,
|
||
Tada WL</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1983 Dec;137(12):1189-90.
|
||
doi: 10.1001/archpedi.1983.02140380049016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6637936" target="_blank">6637936</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primitive%20reflex%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39576271">Detailed Analysis of the Palmomental Reflex and Its Clinical Significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma B,
|
||
Zhang J,
|
||
Cui Y,
|
||
Gao H</span><br />
|
||
<span class="medgenPMjournal">Brain Behav</span>
|
||
2024 Nov;14(11):e70164.
|
||
doi: 10.1002/brb3.70164.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39576271" target="_blank">39576271</a><a href="/pmc/articles/PMC11583821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28709767">Obstetrical Brachial Plexus Palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Berry P,
|
||
Brown M,
|
||
Phillips L,
|
||
Evans SH</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2017 Jul;47(7):151-155.
|
||
Epub 2017 Jul 12
|
||
doi: 10.1016/j.cppeds.2017.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28709767" target="_blank">28709767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23992100">Effects of the reappearance of primitive reflexes on eating function and prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hobo K,
|
||
Kawase J,
|
||
Tamura F,
|
||
Groher M,
|
||
Kikutani T,
|
||
Sunakawa H</span><br />
|
||
<span class="medgenPMjournal">Geriatr Gerontol Int</span>
|
||
2014 Jan;14(1):190-7.
|
||
Epub 2013 Aug 29
|
||
doi: 10.1111/ggi.12078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23992100" target="_blank">23992100</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10082338">Clinical significance of plantar grasp response in infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Futagi Y,
|
||
Suzuki Y,
|
||
Goto M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1999 Feb;20(2):111-5.
|
||
doi: 10.1016/s0887-8994(98)00103-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10082338" target="_blank">10082338</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6734954">Primitive reflex profile: a quantitation of primitive reflexes in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Capute AJ,
|
||
Palmer FB,
|
||
Shapiro BK,
|
||
Wachtel RC,
|
||
Ross A,
|
||
Accardo PJ</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1984 Jun;26(3):375-83.
|
||
doi: 10.1111/j.1469-8749.1984.tb04456.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6734954" target="_blank">6734954</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primitive%20reflex%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38587636">The grasp reflex in patients with idiopathic normal pressure hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Kanno S,
|
||
Iseki C,
|
||
Kawakami N,
|
||
Kakinuma K,
|
||
Katsuse K,
|
||
Matsubara S,
|
||
Ota S,
|
||
Endo K,
|
||
Takanami K,
|
||
Osawa SI,
|
||
Kawaguchi T,
|
||
Endo H,
|
||
Mugikura S,
|
||
Suzuki K</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 Jul;271(7):4191-4202.
|
||
Epub 2024 Apr 8
|
||
doi: 10.1007/s00415-024-12341-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38587636" target="_blank">38587636</a><a href="/pmc/articles/PMC11233324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23887216">Buccopalpebral reflex in Parkinson disease and blink reflex study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Unal Y,
|
||
Kutlu G,
|
||
Erdal A,
|
||
Inan LE</span><br />
|
||
<span class="medgenPMjournal">Neurosciences (Riyadh)</span>
|
||
2013 Jul;18(3):252-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23887216" target="_blank">23887216</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6734954">Primitive reflex profile: a quantitation of primitive reflexes in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Capute AJ,
|
||
Palmer FB,
|
||
Shapiro BK,
|
||
Wachtel RC,
|
||
Ross A,
|
||
Accardo PJ</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1984 Jun;26(3):375-83.
|
||
doi: 10.1111/j.1469-8749.1984.tb04456.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6734954" target="_blank">6734954</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6637936">Infant walkers and cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holm VA,
|
||
Harthun-Smith L,
|
||
Tada WL</span><br />
|
||
<span class="medgenPMjournal">Am J Dis Child</span>
|
||
1983 Dec;137(12):1189-90.
|
||
doi: 10.1001/archpedi.1983.02140380049016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6637936" target="_blank">6637936</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7128943">Effects of body build and arousal on newborn infant stepping.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thelen E,
|
||
Fisher DM,
|
||
Ridley-Johnson R,
|
||
Griffin NJ</span><br />
|
||
<span class="medgenPMjournal">Dev Psychobiol</span>
|
||
1982 Sep;15(5):447-53.
|
||
doi: 10.1002/dev.420150506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7128943" target="_blank">7128943</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primitive%20reflex%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 (34)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/35830652">The association between learning disorders, motor function, and primitive reflexes in pre-school children: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McWhirter K,
|
||
Steel A,
|
||
Adams J</span><br />
|
||
<span class="medgenPMjournal">J Child Health Care</span>
|
||
2024 Jun;28(2):402-428.
|
||
Epub 2022 Jul 13
|
||
doi: 10.1177/13674935221114187.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35830652" target="_blank">35830652</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primitive%20reflex%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 (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1838319%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
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<li><a href="/gtr/tests?term=C1838319%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
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