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<meta name="keywords" content="C4022592, finding, oral motor hypotonia, 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="Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Oral motor hypotonia (Concept Id: C4022592)
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<!--
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UID=868200
|
||
ConceptID=C4022592
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Oral motor hypotonia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868200</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:">C4022592</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0030190">HP:0030190</a></td></tr>
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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">Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
|
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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>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Oral motor hypotonia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/488941" ref="tree=MeSH" title="MedGen record for Abnormal muscle tone">Abnormal muscle tone</a></span><ul><li><span class="TLline"><a href="/medgen/10133" ref="tree=MeSH" title="MedGen record for Hypotonia">Hypotonia</a></span><ul><li><span class="matched_ds">Oral motor hypotonia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_419735"><div><strong>Nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419735</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.">C2931187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782096"><div><strong>Coffin-Siris syndrome 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782096</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.">C5444111</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782096">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coffin-Siris syndrome 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephropathic cystinosis</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/39505005">Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alves BKAMF,
|
||
Araujo APQC,
|
||
Santos FND,
|
||
Ribeiro MG</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2024 Nov;82(11):1-8.
|
||
Epub 2024 Nov 6
|
||
doi: 10.1055/s-0044-1791757.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39505005" target="_blank">39505005</a><a href="/pmc/articles/PMC11540468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34432140">Comparing the Tongue and Lip Strength and Endurance of Children with Down Syndrome with Their Typical Peers Using IOPI.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farpour HR,
|
||
Moosavi SA,
|
||
Mohammadian Z,
|
||
Farpour S</span><br />
|
||
<span class="medgenPMjournal">Dysphagia</span>
|
||
2022 Aug;37(4):966-972.
|
||
Epub 2021 Aug 25
|
||
doi: 10.1007/s00455-021-10359-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34432140" target="_blank">34432140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29763510">Trihexyphenidyl for dystonia in cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvey AR,
|
||
Baker LB,
|
||
Reddihough DS,
|
||
Scheinberg A,
|
||
Williams K</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 May 15;5(5):CD012430.
|
||
doi: 10.1002/14651858.CD012430.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29763510" target="_blank">29763510</a><a href="/pmc/articles/PMC6494536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25437151">Perceptual and instrumental assessments of orofacial muscle tone in dysarthric and normal speakers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietsch AM,
|
||
Solomon NP,
|
||
Sharkey LA,
|
||
Duffy JR,
|
||
Strand EA,
|
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Clark HM</span><br />
|
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<span class="medgenPMjournal">J Rehabil Res Dev</span>
|
||
2014;51(7):1127-42.
|
||
doi: 10.1682/JRRD.2013.07.0167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25437151" target="_blank">25437151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1472356">Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaap C,
|
||
Schrander-Stumpel CT,
|
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Fryns JP</span><br />
|
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<span class="medgenPMjournal">Genet Couns</span>
|
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1992;3(4):209-15.
|
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<span class="bold">PMID: </span><a href="/pubmed/1472356" target="_blank">1472356</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oral%20motor%20hypotonia%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 (27)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39212455">Rare diseases: a challenge in paediatric dentistry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Giuca MR</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Dent</span>
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2024 Sep 3;25(3):171-171.
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Epub 2024 Sep 1
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doi: 10.23804/ejpd.2024.25.03.01.
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<span class="bold">PMID: </span><a href="/pubmed/39212455" target="_blank">39212455</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/38531369">VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Yıldırım M,
|
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Yarenci GB,
|
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Genç MB,
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Uçar Çİ,
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Bayav S,
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Tekin MN,
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Bektaş Ö,
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Teber S</span><br />
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<span class="medgenPMjournal">Neuropediatrics</span>
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2024 Jun;55(3):200-204.
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Epub 2024 Mar 26
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doi: 10.1055/s-0044-1782675.
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<span class="bold">PMID: </span><a href="/pubmed/38531369" target="_blank">38531369</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36754148">Recurrent hypokalemic paralysis in hypothyroidism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Singh J,
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Dinkar A,
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Kumar N,
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Kumar K</span><br />
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<span class="medgenPMjournal">Am J Med Sci</span>
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2023 May;365(5):462-469.
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Epub 2023 Feb 6
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<span class="bold">PMID: </span><a href="/pubmed/36754148" target="_blank">36754148</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29763510">Trihexyphenidyl for dystonia in cerebral palsy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Harvey AR,
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Baker LB,
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Reddihough DS,
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Scheinberg A,
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Williams K</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2018 May 15;5(5):CD012430.
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<span class="bold">PMID: </span><a href="/pubmed/29763510" target="_blank">29763510</a><a href="/pmc/articles/PMC6494536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11835468">Improvement of severe trunk spasms by bilateral high-frequency stimulation of the motor thalamus in a patient with chorea-acanthocytosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Burbaud P,
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Rougier A,
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Ferrer X,
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Guehl D,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oral%20motor%20hypotonia%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 (34)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39505005">Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies.</a></div>
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doi: 10.1055/s-0044-1791757.
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<span class="bold">PMID: </span><a href="/pubmed/39505005" target="_blank">39505005</a><a href="/pmc/articles/PMC11540468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35000215">Segmental facial infantile haemangiomas in the era of propranolol: evaluation at 6 years of age.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Letertre O,
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Boccara O,
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<span class="bold">PMID: </span><a href="/pubmed/35000215" target="_blank">35000215</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29763510">Trihexyphenidyl for dystonia in cerebral palsy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Harvey AR,
|
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Baker LB,
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Reddihough DS,
|
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Scheinberg A,
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Williams K</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2018 May 15;5(5):CD012430.
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doi: 10.1002/14651858.CD012430.pub2.
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<span class="bold">PMID: </span><a href="/pubmed/29763510" target="_blank">29763510</a><a href="/pmc/articles/PMC6494536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26842493">Clinical delineation of the PACS1-related syndrome--Report on 19 patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schuurs-Hoeijmakers JH,
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Gadzicki D,
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Selby K,
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van Karnebeek CD,
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Stavropoulos DJ,
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Marshall CR,
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Merico D,
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Gregor A,
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Zweier C,
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Hopkin RJ,
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de Vries BB,
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Devriendt K,
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Hurles ME,
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Brunner HG;
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2016 Mar;170(3):670-5.
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<span class="bold">PMID: </span><a href="/pubmed/26842493" target="_blank">26842493</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15019702">Childhood macrophagic myofasciitis-consanguinity and clinicopathological features.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nevo Y,
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Kutai M,
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Jossiphov J,
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Livne A,
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Neeman Z,
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Arad T,
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<span class="medgenPMjournal">Neuromuscul Disord</span>
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2004 Apr;14(4):246-52.
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<span class="bold">PMID: </span><a href="/pubmed/15019702" target="_blank">15019702</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oral%20motor%20hypotonia%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 (16)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/29225339">Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Morgan AT,
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Haaften LV,
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van Hulst K,
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Edley C,
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Mei C,
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Tan TY,
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2018 Jan;26(1):75-84.
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Epub 2017 Dec 11
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<span class="bold">PMID: </span><a href="/pubmed/29225339" target="_blank">29225339</a><a href="/pmc/articles/PMC5839037" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25437151">Perceptual and instrumental assessments of orofacial muscle tone in dysarthric and normal speakers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietsch AM,
|
||
Solomon NP,
|
||
Sharkey LA,
|
||
Duffy JR,
|
||
Strand EA,
|
||
Clark HM</span><br />
|
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<span class="medgenPMjournal">J Rehabil Res Dev</span>
|
||
2014;51(7):1127-42.
|
||
doi: 10.1682/JRRD.2013.07.0167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25437151" target="_blank">25437151</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/12924988">Children with Down Syndrome: oral development and morphology after use of palatal plates between 6 and 18 months of age.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bäckman B,
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Grevér-Sjölander AC,
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Holm AK,
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Johansson I</span><br />
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2003 Sep;13(5):327-35.
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<span class="bold">PMID: </span><a href="/pubmed/12924988" target="_blank">12924988</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/11516611">Oral motor dysfunction and feeding difficulties in nephropathic cystinosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Trauner DA,
|
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Fahmy RF,
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Mishler DA</span><br />
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<span class="medgenPMjournal">Pediatr Neurol</span>
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2001 May;24(5):365-8.
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doi: 10.1016/s0887-8994(01)00268-5.
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<span class="bold">PMID: </span><a href="/pubmed/11516611" target="_blank">11516611</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/1472356">Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Schaap C,
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Schrander-Stumpel CT,
|
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Fryns JP</span><br />
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<span class="medgenPMjournal">Genet Couns</span>
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1992;3(4):209-15.
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<span class="bold">PMID: </span><a href="/pubmed/1472356" target="_blank">1472356</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oral%20motor%20hypotonia%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38753057">De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Harel T,
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Spicher C,
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Scheer E,
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Buchan JG,
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Cech J,
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Folland C,
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Frey T,
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Holtz AM,
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Innes AM,
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Keren B,
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Macken WL,
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Marcelis C,
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Otten CE,
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Paolucci SA,
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Petit F,
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Pfundt R,
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Pitceathly RDS,
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Rauch A,
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Ravenscroft G,
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Sanchev R,
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Steindl K,
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Tammer F,
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Tyndall A,
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Devys D,
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Vincent SD,
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Elpeleg O,
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<span class="medgenPMjournal">Brain</span>
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2024 Aug 1;147(8):2732-2744.
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doi: 10.1093/brain/awae160.
|
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<span class="bold">PMID: </span><a href="/pubmed/38753057" target="_blank">38753057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38531369">VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yıldırım M,
|
||
Yarenci GB,
|
||
Genç MB,
|
||
Uçar Çİ,
|
||
Bayav S,
|
||
Tekin MN,
|
||
Bektaş Ö,
|
||
Teber S</span><br />
|
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<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2024 Jun;55(3):200-204.
|
||
Epub 2024 Mar 26
|
||
doi: 10.1055/s-0044-1782675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38531369" target="_blank">38531369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36758276">Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">den Hollander B,
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Veenvliet ARJ,
|
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Rothuizen-Lindenschot M,
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van Essen P,
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Peters G,
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Santos-Gómez A,
|
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Olivella M,
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Altafaj X,
|
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Brands MM,
|
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Jacobs BAW,
|
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van Karnebeek CD</span><br />
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<span class="medgenPMjournal">Mol Genet Metab</span>
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2023 Mar;138(3):107523.
|
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Epub 2023 Jan 21
|
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doi: 10.1016/j.ymgme.2023.107523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36758276" target="_blank">36758276</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29763510">Trihexyphenidyl for dystonia in cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvey AR,
|
||
Baker LB,
|
||
Reddihough DS,
|
||
Scheinberg A,
|
||
Williams K</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 May 15;5(5):CD012430.
|
||
doi: 10.1002/14651858.CD012430.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29763510" target="_blank">29763510</a><a href="/pmc/articles/PMC6494536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11516611">Oral motor dysfunction and feeding difficulties in nephropathic cystinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trauner DA,
|
||
Fahmy RF,
|
||
Mishler DA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2001 May;24(5):365-8.
|
||
doi: 10.1016/s0887-8994(01)00268-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11516611" target="_blank">11516611</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oral%20motor%20hypotonia%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 (24)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/29763510">Trihexyphenidyl for dystonia in cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvey AR,
|
||
Baker LB,
|
||
Reddihough DS,
|
||
Scheinberg A,
|
||
Williams K</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 May 15;5(5):CD012430.
|
||
doi: 10.1002/14651858.CD012430.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29763510" target="_blank">29763510</a><a href="/pmc/articles/PMC6494536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Oral%20motor%20hypotonia%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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|
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