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<!--
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UID=356495
|
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ConceptID=C1866284
|
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Motor deterioration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356495</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.">C1866284</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Progressive degeneration of movement</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:0002333">HP:0002333</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">Loss of previously present motor (i.e., movement) 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>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Motor 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">Motor 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>
|
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|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_44131"><div><strong>Galactosylceramide beta-galactosidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44131</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:">C0023521</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 months and as late as the seventh decade). Although historically 85%-90% of symptomatic individuals with Krabbe disease diagnosed by enzyme activity alone have infantile-onset Krabbe disease and 10%-15% have later-onset Krabbe disease, the experience with newborn screening (NBS) suggests that the proportion of individuals with possible later-onset Krabbe disease is higher than previously thought. Infantile-onset Krabbe disease is characterized by normal development in the first few months followed by rapid severe neurologic deterioration; the average age of death is 24 months (range 8 months to 9 years). Later-onset Krabbe disease is much more variable in its presentation and disease course.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44131">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_48441"><div><strong>Rett syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48441</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.">C0035372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48441">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39477"><div><strong>Mucopolysaccharidosis, MPS-III-C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39477</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.">C0086649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39477">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120624"><div><strong>Sphingolipid activator protein 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120624</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.">C0268262</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The adult form of metachromatic leukodystrophy affects approximately 15 to 20 percent of individuals with the disorder. In this form, the first symptoms appear during the teenage years or later. Often behavioral problems such as alcohol use disorder, drug abuse, or difficulties at school or work are the first symptoms to appear. The affected individual may experience psychiatric symptoms such as delusions or hallucinations. People with the adult form of metachromatic leukodystrophy may survive for 20 to 30 years after diagnosis. During this time there may be some periods of relative stability and other periods of more rapid decline.\n\nIn 20 to 30 percent of individuals with metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. In this juvenile form, the first signs of the disorder may be behavioral problems and increasing difficulty with schoolwork. Progression of the disorder is slower than in the late infantile form, and affected individuals may survive for about 20 years after diagnosis.\n\nThe most common form of metachromatic leukodystrophy, affecting about 50 to 60 percent of all individuals with this disorder, is called the late infantile form. This form of the disorder usually appears in the second year of life. Affected children lose any speech they have developed, become weak, and develop problems with walking (gait disturbance). As the disorder worsens, muscle tone generally first decreases, and then increases to the point of rigidity. Individuals with the late infantile form of metachromatic leukodystrophy typically do not survive past childhood.\n\nIn people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk. Affected individuals also develop loss of sensation in the extremities (peripheral neuropathy), incontinence, seizures, paralysis, an inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported, most often involving the gallbladder.\n\nMetachromatic leukodystrophy gets its name from the way cells with an accumulation of sulfatides appear when viewed under a microscope. The sulfatides form granules that are described as metachromatic, which means they pick up color differently than surrounding cellular material when stained for examination.\n\nMetachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white matter. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120624">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376792"><div><strong>Neuronal ceroid lipofuscinosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376792</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.">C1850442</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 patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). 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/376792">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394313"><div><strong>ANE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394313</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.">C2677535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) is an autosomal recessive disorder characterized by alopecia with skin involvement including multiple facial nevi and flexural hyperpigmentation; moderately to severely impaired intellectual development; progressive motor decline; and endocrine deficiency (summary by Spiegel et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394313">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1790423"><div><strong>Ceroid lipofuscinosis, neuronal, 6A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790423</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.">C5551375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuronal ceroid lipofuscinosis-6A (CLN6A) is an autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development. Affected individuals have progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures. As with all CLNs, CLN6A is characterized pathologically by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN6A comprises mixed combinations of 'curvilinear' and 'fingerprint' profiles (summary by Sharp et al., 2003; Mole et al., 2005). For a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1790423">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841261"><div><strong>Megalencephalic leukoencephalopathy with subcortical cysts 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841261</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.">C5830625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3) is a neurodegenerative disorder characterized by increased head circumference in infancy followed by progressive motor and cognitive decline in early childhood. Affected individuals either do not achieve walking or lose independent ambulation in the first or second decades. Cognitive impairment is variable and accompanied by poor speech and dysarthria. Most patients have early-onset seizures, which may be mild or refractory. Brain imaging shows unremitting megalencephalic leukoencephalopathy with subcortical cysts and swelling of the cerebral white matter (Passchier et al., 2023). For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841261">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ANE syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1790423" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ceroid lipofuscinosis, neuronal, 6A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44131" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galactosylceramide beta-galactosidase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841261" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephalic leukoencephalopathy with subcortical cysts 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-III-C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_48441" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rett syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sphingolipid activator protein 1 deficiency</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39251501">Rett Syndrome: The Emerging Landscape of Treatment Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Percy AK,
|
||
Ananth A,
|
||
Neul JL</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2024 Nov;38(11):851-867.
|
||
Epub 2024 Sep 9
|
||
doi: 10.1007/s40263-024-01106-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39251501" target="_blank">39251501</a><a href="/pmc/articles/PMC11486803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32694325">Spinal Epidural Abscess: Diagnosis, Management, and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwab JH,
|
||
Shah AA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2020 Nov 1;28(21):e929-e938.
|
||
doi: 10.5435/JAAOS-D-19-00685.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32694325" target="_blank">32694325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10685483">Nonoperative treatment for lumbar spinal stenosis. Clinical and outcome results and a 3-year survivorship analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simotas AC,
|
||
Dorey FJ,
|
||
Hansraj KK,
|
||
Cammisa F Jr</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2000 Jan 15;25(2):197-203; discussions 203-4.
|
||
doi: 10.1097/00007632-200001150-00009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10685483" target="_blank">10685483</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22motor%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 (7)</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/38477320">Pediatric Subacute Sclerosing Panencephalitis: A Narrative Review on Measles and the Future of Vaccination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sulaiman SA,
|
||
Vora NM,
|
||
Chhabra K,
|
||
Bashir MA,
|
||
Awan Z</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2024 Mar;39(3-4):89-97.
|
||
Epub 2024 Mar 13
|
||
doi: 10.1177/08830738241238860.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38477320" target="_blank">38477320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32694325">Spinal Epidural Abscess: Diagnosis, Management, and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwab JH,
|
||
Shah AA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2020 Nov 1;28(21):e929-e938.
|
||
doi: 10.5435/JAAOS-D-19-00685.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32694325" target="_blank">32694325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31779820">Parkinsonism in neurometabolic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carecchio M</span><br />
|
||
<span class="medgenPMjournal">Int Rev Neurobiol</span>
|
||
2019;149:355-376.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1016/bs.irn.2019.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31779820" target="_blank">31779820</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29721932">Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kleine Holthaus SM,
|
||
Smith AJ,
|
||
Mole SE,
|
||
Ali RR</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2018;1074:91-99.
|
||
doi: 10.1007/978-3-319-75402-4_12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29721932" target="_blank">29721932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12528813">The neuronal ceroid-lipofuscinoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haltia M</span><br />
|
||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
|
||
2003 Jan;62(1):1-13.
|
||
doi: 10.1093/jnen/62.1.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12528813" target="_blank">12528813</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%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 (121)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39251501">Rett Syndrome: The Emerging Landscape of Treatment Strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Percy AK,
|
||
Ananth A,
|
||
Neul JL</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2024 Nov;38(11):851-867.
|
||
Epub 2024 Sep 9
|
||
doi: 10.1007/s40263-024-01106-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39251501" target="_blank">39251501</a><a href="/pmc/articles/PMC11486803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32694325">Spinal Epidural Abscess: Diagnosis, Management, and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwab JH,
|
||
Shah AA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
||
2020 Nov 1;28(21):e929-e938.
|
||
doi: 10.5435/JAAOS-D-19-00685.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32694325" target="_blank">32694325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31387202">Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kahanovitch U,
|
||
Patterson KC,
|
||
Hernandez R,
|
||
Olsen ML</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2019 Aug 5;20(15)
|
||
doi: 10.3390/ijms20153813.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31387202" target="_blank">31387202</a><a href="/pmc/articles/PMC6696322" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16155442">Multifocal motor neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Léger JM,
|
||
Behin A</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2005 Oct;18(5):567-73.
|
||
doi: 10.1097/01.wco.0000175937.31569.15.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16155442" target="_blank">16155442</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6202474">Treatment of subacute sclerosing panencephalitis: an overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor WJ,
|
||
DuRant RH,
|
||
Dyken PR</span><br />
|
||
<span class="medgenPMjournal">Drug Intell Clin Pharm</span>
|
||
1984 May;18(5):375-81.
|
||
doi: 10.1177/106002808401800503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6202474" target="_blank">6202474</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%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 (104)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39300821">Clinical-grade intranasal NGF fuels neurological and metabolic functions of Mecp2-deficient mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pozzer D,
|
||
Indrigo M,
|
||
Breccia M,
|
||
Florio E,
|
||
Franchino CA,
|
||
De Rocco G,
|
||
Maltecca F,
|
||
Fadda A,
|
||
Rossato M,
|
||
Aramini A,
|
||
Allegretti M,
|
||
Frasca A,
|
||
De Filippis L,
|
||
Landsberger N</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2025 Mar 6;148(3):845-860.
|
||
doi: 10.1093/brain/awae291.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/38477320">Pediatric Subacute Sclerosing Panencephalitis: A Narrative Review on Measles and the Future of Vaccination.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sulaiman SA,
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Vora NM,
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<div class="nl"><a target="_blank" href="/pubmed/32694325">Spinal Epidural Abscess: Diagnosis, Management, and Outcomes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schwab JH,
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<span class="bold">PMID: </span><a href="/pubmed/32694325" target="_blank">32694325</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bouhouche A,
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Regragui W,
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El Fahime E,
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<div class="portlet_content ln"><span class="medgenPMauthor">Simotas AC,
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<span class="bold">PMID: </span><a href="/pubmed/10685483" target="_blank">10685483</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%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 (87)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39300821">Clinical-grade intranasal NGF fuels neurological and metabolic functions of Mecp2-deficient mice.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/39092513">Distinct Clinical Implications of Patient- Versus Clinician-Rated Motor Symptoms in Parkinson's Disease.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37563866">Comparing the effects of GBA variants and onset age on clinical features and progression in Parkinson's disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ren J,
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Zhan X,
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Xing Y,
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<span class="bold">PMID: </span><a href="/pubmed/37563866" target="_blank">37563866</a><a href="/pmc/articles/PMC10848098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32694325">Spinal Epidural Abscess: Diagnosis, Management, and Outcomes.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwab JH,
|
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Shah AA</span><br />
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<span class="medgenPMjournal">J Am Acad Orthop Surg</span>
|
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2020 Nov 1;28(21):e929-e938.
|
||
doi: 10.5435/JAAOS-D-19-00685.
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||
<span class="bold">PMID: </span><a href="/pubmed/32694325" target="_blank">32694325</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19572115">Molecular pathogenesis of spinocerebellar ataxia type 1 disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kang S,
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<span class="bold">PMID: </span><a href="/pubmed/19572115" target="_blank">19572115</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%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 (108)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/34303089">One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bekircan-Kurt CE,
|
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Çetinkaya A,
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Gocmen R,
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Koşukcu C,
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Soylemezoglu F,
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Arsava EM,
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Tuncer A,
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|
||
Akarsu NA,
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Topcuoglu MA</span><br />
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2021 Sep;30(9):105997.
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Epub 2021 Jul 21
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||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/34303089" target="_blank">34303089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27056066">Quetiapine for Psychosis in Parkinson Disease and Neurodegenerative Parkinsonian Disorders: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desmarais P,
|
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Massoud F,
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Filion J,
|
||
Nguyen QD,
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<span class="medgenPMjournal">J Geriatr Psychiatry Neurol</span>
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||
2016 Jul;29(4):227-36.
|
||
Epub 2016 Apr 6
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/27056066" target="_blank">27056066</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20881468">Surgical management of post-traumatic syringomyelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonfield CM,
|
||
Levi AD,
|
||
Arnold PM,
|
||
Okonkwo DO</span><br />
|
||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2010 Oct 1;35(21 Suppl):S245-58.
|
||
doi: 10.1097/BRS.0b013e3181f32e9c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20881468" target="_blank">20881468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19117366">Neuroprotection trials in Parkinson's disease: systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hart RG,
|
||
Pearce LA,
|
||
Ravina BM,
|
||
Yaltho TC,
|
||
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|
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<span class="medgenPMjournal">Mov Disord</span>
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2009 Apr 15;24(5):647-54.
|
||
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|
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<span class="bold">PMID: </span><a href="/pubmed/19117366" target="_blank">19117366</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%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 (4)</a></div></div>
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