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<meta name="keywords" content="C1836842, finding, psychomotor degeneration, psychomotor deterioration, 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="Loss of previously present mental and motor abilities." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Psychomotor deterioration (Concept Id: C1836842)
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<!--
UID=373191
ConceptID=C1836842
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Psychomotor deterioration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373191</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)&#10;Click for more information.">C1836842</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Psychomotor degeneration</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:0002361">HP:0002361</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>
<div class="portlet_content ln">Loss of previously present mental and motor abilities. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<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">Psychomotor deterioration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868938" ref="tree=MeSH" title="MedGen record for Abnormality of mental function">Abnormality of mental function</a></span><ul><li><span class="TLline"><a href="/medgen/90932" ref="tree=MeSH" title="MedGen record for Cognitive impairment">Cognitive impairment</a></span><ul><li><span class="TLline"><a href="/medgen/66713" ref="tree=MeSH" title="MedGen record for Mental deterioration">Mental deterioration</a></span><ul><li><span class="matched_ds">Psychomotor deterioration</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_11713"><div><strong>Tay-Sachs disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11713</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0039373</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. HEX A is necessary for degradation of GM2 ganglioside; without well-functioning enzymes, GM2 ganglioside builds up in the lysosomes of brain and nerve cells. The classic clinical phenotype is known as Tay-Sachs disease (TSD), characterized by progressive weakness, loss of motor skills beginning between ages three and six months, decreased visual attentiveness, and increased or exaggerated startle response with a cherry-red spot observable on the retina followed by developmental plateau and loss of skills after eight to ten months. Seizures are common by 12 months with further deterioration in the second year of life and death occurring between ages two and three years with some survival to five to seven years. Subacute juvenile TSD is associated with normal developmental milestones until age two years, when the emergence of abnormal gait or dysarthria is noted followed by loss of previously acquired skills and cognitive decline. Spasticity, dysphagia, and seizures are present by the end of the first decade of life, with death within the second decade of life, usually by aspiration. Late-onset TSD presents in older teens or young adults with a slowly progressive spectrum of neurologic symptoms including lower-extremity weakness with muscle atrophy, dysarthria, incoordination, tremor, mild spasticity and/or dystonia, and psychiatric manifestations including acute psychosis. Clinical variability even among affected members of the same family is observed in both the subacute juvenile and the late-onset TSD phenotypes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11713">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_61440"><div><strong>Pelizaeus-Merzbacher disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61440</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)&#10;Click for more information.">C0205711</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/61440">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_155549"><div><strong>Neuronal ceroid lipofuscinosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155549</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)&#10;Click for more information.">C0751383</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).&#13; The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155549">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_332304"><div><strong>Neuronal ceroid lipofuscinosis 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332304</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)&#10;Click for more information.">C1836841</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).&#13; For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/332304">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340540"><div><strong>Neuronal ceroid lipofuscinosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340540</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)&#10;Click for more information.">C1850451</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).&#13; Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.&#13; Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses.&#13; Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis&#13; See also CLN2 (204500), caused by mutation in the TPP1 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4 (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q22; CLN6A (601780) and CLN6B (204300), both caused by mutation in the CLN6 gene (606725) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), both caused by mutation in the CLN8 gene (607837) on 8p23; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q21; CLN13 (615362), caused by mutation in the CTSF gene (603539) on 11q13; and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11.&#13; CLN9 (609055) has not been molecularly characterized.&#13; A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340540">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 9</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelizaeus-Merzbacher disease</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tay-Sachs disease</a></div></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/37793406">Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sampaio LPB,
Henriques-Souza AMM,
Silveira MRMD,
Seguti L,
Santos MLSF,
Montenegro MA,
Antoniuk S,
Manreza MLG</span><br />
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
2023 Sep;81(9):844-856.
Epub 2023 Oct 4
doi: 10.1055/s-0043-1772835.
<span class="bold">PMID: </span><a href="/pubmed/37793406" target="_blank">37793406</a><a href="/pmc/articles/PMC10550353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6504850">Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Besançon AM,
Belon JP,
Castelnau L,
Dumez Y,
Poenaru L</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
1984 Sep-Oct;4(5):365-70.
doi: 10.1002/pd.1970040507.
<span class="bold">PMID: </span><a href="/pubmed/6504850" target="_blank">6504850</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22psychomotor%20deterioration%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>
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<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/39424378">VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Muccioli L,
Vignatelli L,
Tappatà M,
Mazzone S,
Zenesini C,
Armstrong D;
DEFEAT-LD study group,
Michelucci R,
Bisulli F</span><br />
<span class="medgenPMjournal">BMJ Open</span>
2024 Oct 18;14(10):e085062.
doi: 10.1136/bmjopen-2024-085062.
<span class="bold">PMID: </span><a href="/pubmed/39424378" target="_blank">39424378</a><a href="/pmc/articles/PMC11492954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35180571">Vigabatrin-associated brain abnormalities on MRI and other neurological symptoms in patients with West syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Reyes Valenzuela G,
Crespo A,
Princich J,
Fassulo L,
Semprino M,
Gallo A,
Rugilo C,
Pociecha J,
Calvo A,
Caraballo RH</span><br />
<span class="medgenPMjournal">Epilepsy Behav</span>
2022 Apr;129:108606.
Epub 2022 Feb 15
doi: 10.1016/j.yebeh.2022.108606.
<span class="bold">PMID: </span><a href="/pubmed/35180571" target="_blank">35180571</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10826995">Genetics of the neuronal ceroid lipofuscinoses.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peltonen L,
Savukoski M,
Vesa J</span><br />
<span class="medgenPMjournal">Curr Opin Genet Dev</span>
2000 Jun;10(3):299-305.
doi: 10.1016/s0959-437x(00)00086-1.
<span class="bold">PMID: </span><a href="/pubmed/10826995" target="_blank">10826995</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10069573">Batten disease: four genes and still counting.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mole SE</span><br />
<span class="medgenPMjournal">Neurobiol Dis</span>
1998 Nov;5(5):287-303.
doi: 10.1006/nbdi.1998.0209.
<span class="bold">PMID: </span><a href="/pubmed/10069573" target="_blank">10069573</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6504850">Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Besançon AM,
Belon JP,
Castelnau L,
Dumez Y,
Poenaru L</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
1984 Sep-Oct;4(5):365-70.
doi: 10.1002/pd.1970040507.
<span class="bold">PMID: </span><a href="/pubmed/6504850" target="_blank">6504850</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Psychomotor%20deterioration%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/22832779">Infantile spasms (West syndrome) in children with inborn errors of metabolism: a review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gkampeta A,
Pavlou E</span><br />
<span class="medgenPMjournal">J Child Neurol</span>
2012 Oct;27(10):1295-301.
Epub 2012 Jul 25
doi: 10.1177/0883073812448532.
<span class="bold">PMID: </span><a href="/pubmed/22832779" target="_blank">22832779</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11701238">What is West syndrome?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dulac O</span><br />
<span class="medgenPMjournal">Brain Dev</span>
2001 Nov;23(7):447-52.
doi: 10.1016/s0387-7604(01)00268-6.
<span class="bold">PMID: </span><a href="/pubmed/11701238" target="_blank">11701238</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7924073">Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van de Vlasakker CJ,
Gabreëls FJ,
Wijburg HC,
Wevers RA</span><br />
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
1994 May;96(2):119-23.
doi: 10.1016/0303-8467(94)90044-2.
<span class="bold">PMID: </span><a href="/pubmed/7924073" target="_blank">7924073</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3598129">Pelizaeus-Merzbacher disease: clinical and nosological study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Boulloche J,
Aicardi J</span><br />
<span class="medgenPMjournal">J Child Neurol</span>
1986 Jul;1(3):233-9.
doi: 10.1177/088307388600100310.
<span class="bold">PMID: </span><a href="/pubmed/3598129" target="_blank">3598129</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6504850">Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Besançon AM,
Belon JP,
Castelnau L,
Dumez Y,
Poenaru L</span><br />
<span class="medgenPMjournal">Prenat Diagn</span>
1984 Sep-Oct;4(5):365-70.
doi: 10.1002/pd.1970040507.
<span class="bold">PMID: </span><a href="/pubmed/6504850" target="_blank">6504850</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Psychomotor%20deterioration%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 (47)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39424378">VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Muccioli L,
Vignatelli L,
Tappatà M,
Mazzone S,
Zenesini C,
Armstrong D;
DEFEAT-LD study group,
Michelucci R,
Bisulli F</span><br />
<span class="medgenPMjournal">BMJ Open</span>
2024 Oct 18;14(10):e085062.
doi: 10.1136/bmjopen-2024-085062.
<span class="bold">PMID: </span><a href="/pubmed/39424378" target="_blank">39424378</a><a href="/pmc/articles/PMC11492954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37793406">Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sampaio LPB,
Henriques-Souza AMM,
Silveira MRMD,
Seguti L,
Santos MLSF,
Montenegro MA,
Antoniuk S,
Manreza MLG</span><br />
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
2023 Sep;81(9):844-856.
Epub 2023 Oct 4
doi: 10.1055/s-0043-1772835.
<span class="bold">PMID: </span><a href="/pubmed/37793406" target="_blank">37793406</a><a href="/pmc/articles/PMC10550353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35180571">Vigabatrin-associated brain abnormalities on MRI and other neurological symptoms in patients with West syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Reyes Valenzuela G,
Crespo A,
Princich J,
Fassulo L,
Semprino M,
Gallo A,
Rugilo C,
Pociecha J,
Calvo A,
Caraballo RH</span><br />
<span class="medgenPMjournal">Epilepsy Behav</span>
2022 Apr;129:108606.
Epub 2022 Feb 15
doi: 10.1016/j.yebeh.2022.108606.
<span class="bold">PMID: </span><a href="/pubmed/35180571" target="_blank">35180571</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10428434">Successful management of intractable epilepsy with intravenous lidocain and lidocain tapes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kobayashi K,
Ito M,
Miyajima T,
Fujii T,
Okuno T</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
1999 Jul;21(1):476-80.
doi: 10.1016/s0887-8994(99)00026-0.
<span class="bold">PMID: </span><a href="/pubmed/10428434" target="_blank">10428434</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10227067">Lack of effect of terfenadine on the pharmacokinetics of the CYP3A4 substrate buspirone.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lamberg TS,
Kivistö KT,
Neuvonen PJ</span><br />
<span class="medgenPMjournal">Pharmacol Toxicol</span>
1999 Apr;84(4):165-9.
doi: 10.1111/j.1600-0773.1999.tb00894.x.
<span class="bold">PMID: </span><a href="/pubmed/10227067" target="_blank">10227067</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Psychomotor%20deterioration%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 (15)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34399803">Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pondrelli F,
Muccioli L,
Licchetta L,
Mostacci B,
Zenesini C,
Tinuper P,
Vignatelli L,
Bisulli F</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2021 Aug 16;16(1):362.
doi: 10.1186/s13023-021-01989-w.
<span class="bold">PMID: </span><a href="/pubmed/34399803" target="_blank">34399803</a><a href="/pmc/articles/PMC8365996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19833974">Expanding spectrum of encephalitis with NMDA receptor antibodies in young children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lebas A,
Husson B,
Didelot A,
Honnorat J,
Tardieu M</span><br />
<span class="medgenPMjournal">J Child Neurol</span>
2010 Jun;25(6):742-5.
Epub 2009 Oct 15
doi: 10.1177/0883073809343319.
<span class="bold">PMID: </span><a href="/pubmed/19833974" target="_blank">19833974</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12075490">Chorea Huntington: a rare case with childhood onset.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gencik M,
Hammans C,
Strehl H,
Wagner N,
Epplen JT</span><br />
<span class="medgenPMjournal">Neuropediatrics</span>
2002 Apr;33(2):90-2.
doi: 10.1055/s-2002-32367.
<span class="bold">PMID: </span><a href="/pubmed/12075490" target="_blank">12075490</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10191122">Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klockars T,
Savukoski M,
Isosomppi J,
Peltonen L</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
1999 Apr;66(4):324-8.
doi: 10.1006/mgme.1999.2832.
<span class="bold">PMID: </span><a href="/pubmed/10191122" target="_blank">10191122</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10069573">Batten disease: four genes and still counting.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mole SE</span><br />
<span class="medgenPMjournal">Neurobiol Dis</span>
1998 Nov;5(5):287-303.
doi: 10.1006/nbdi.1998.0209.
<span class="bold">PMID: </span><a href="/pubmed/10069573" target="_blank">10069573</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Psychomotor%20deterioration%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 (23)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/11174152">Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mikaeloff Y,
Plouin P,
Dhondt JL,
Ponsot G,
Dulac O</span><br />
<span class="medgenPMjournal">Epileptic Disord</span>
2000 Dec;2(4):213-7.
<span class="bold">PMID: </span><a href="/pubmed/11174152" target="_blank">11174152</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10227067">Lack of effect of terfenadine on the pharmacokinetics of the CYP3A4 substrate buspirone.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lamberg TS,
Kivistö KT,
Neuvonen PJ</span><br />
<span class="medgenPMjournal">Pharmacol Toxicol</span>
1999 Apr;84(4):165-9.
doi: 10.1111/j.1600-0773.1999.tb00894.x.
<span class="bold">PMID: </span><a href="/pubmed/10227067" target="_blank">10227067</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10094192">Spectrum of mutations in fucosidosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Willems PJ,
Seo HC,
Coucke P,
Tonlorenzi R,
O'Brien JS</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
1999 Jan;7(1):60-7.
doi: 10.1038/sj.ejhg.5200272.
<span class="bold">PMID: </span><a href="/pubmed/10094192" target="_blank">10094192</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9112970">A novel neurological disorder with progressive CNS calcification, deafness, renal tubular acidosis, and microcytic anemia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimura M,
Hara T,
Maegaki Y,
Koeda T,
Okubo K,
Hamasaki N,
Sly WS,
Takeshita K</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
1997 Mar;39(3):198-201.
doi: 10.1111/j.1469-8749.1997.tb07410.x.
<span class="bold">PMID: </span><a href="/pubmed/9112970" target="_blank">9112970</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6650130">Neuroaxonal dystrophy with neuromelanin deposition, neurofibrillary tangles, and neuronal loss. Light- and electron-microscopic changes in a 45-year-old woman with progressive psychomotor deterioration.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hartmann HA,
White SK,
Levine RL</span><br />
<span class="medgenPMjournal">Acta Neuropathol</span>
1983;61(3-4):169-72.
doi: 10.1007/BF00691981.
<span class="bold">PMID: </span><a href="/pubmed/6650130" target="_blank">6650130</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Psychomotor%20deterioration%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 (31)</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/34399803">Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pondrelli F,
Muccioli L,
Licchetta L,
Mostacci B,
Zenesini C,
Tinuper P,
Vignatelli L,
Bisulli F</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2021 Aug 16;16(1):362.
doi: 10.1186/s13023-021-01989-w.
<span class="bold">PMID: </span><a href="/pubmed/34399803" target="_blank">34399803</a><a href="/pmc/articles/PMC8365996" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Psychomotor%20deterioration%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 class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22psychomotor%20deterioration%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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