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<meta name="keywords" content="C0151564, cogwheel muscle rigidity, cogwheel rigidities, cogwheel rigidity, cogwheeling, rigidities, cogwheel, rigidity, cogwheel, sign or symptom, 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="A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=57469
|
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ConceptID=C0151564
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cogwheel rigidity</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57469</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.">C0151564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cogwheel Rigidities; Cogwheel Rigidity; Rigidities, Cogwheel; Rigidity, Cogwheel</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cogwheel rigidity (55630000); Cogwheel muscle rigidity (55630000)</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:0002396">HP:0002396</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">A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). [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="TLline">Cogwheel rigidity</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/10132" ref="tree=MeSH" title="MedGen record for Hypertonia">Hypertonia</a></span><ul><li><span class="TLline"><a href="/medgen/7752" ref="tree=MeSH" title="MedGen record for Rigidity">Rigidity</a></span><ul><li><span class="matched_ds">Cogwheel rigidity</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_208674"><div><strong>Early-onset parkinsonism-intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208674</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.">C0796195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waisman syndrome (WSMN) is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208674">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_168057"><div><strong>Deficiency of ferroxidase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>168057</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:">C0878682</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease is seen in individuals ranging from age 30 years to older than 70 years. The neurologic findings of movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and ataxia (gait ataxia, dysarthria) correspond to regions of iron deposition in the brain. Individuals with aceruloplasminemia often present with anemia prior to onset of DM or obvious neurologic problems. Cognitive dysfunction including apathy and forgetfulness occurs in more than half of individuals with this condition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/168057">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375289"><div><strong>Biotin-responsive basal ganglia disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375289</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.">C1843807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in early infancy, childhood, or adulthood. Early-infantile BTBGD presents before age three months with vomiting, feeding difficulties, encephalopathy, hypotonia, seizures, and respiratory failure. Classic BTBGD presents between ages three and ten years with recurrent subacute encephalopathy manifesting as confusion, seizures, ataxia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia that, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. Adult Wernicke-like encephalopathy BTBGD, described in three individuals to date, presents after age ten years with acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in classic and adult BTBGD; however, most infants with early-infantile BTBGD have a poor outcome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375289">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375311"><div><strong>Spinocerebellar ataxia type 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375311</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.">C1843891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by Delplanque et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339504"><div><strong>Spinocerebellar ataxia type 19/22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339504</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.">C1846367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia-19 (SCA19) is an autosomal dominant disorder characterized by progressive cerebellar ataxia with a variable age of onset (age 2 years to late adulthood). Other neurologic manifestations include developmental delay and cognitive impairment; movement disorders including myoclonus, dystonia, rigidity, and bradykinesia; and seizures. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339504">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342121"><div><strong>Dystonia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342121</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.">C1851920</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms toward the evening and alleviation of symptoms in the morning after sleep). Initial symptoms are often gait difficulties attributable to flexion-inversion (equinovarus posture) of the foot. Occasionally, initial symptoms are arm dystonia, postural tremor of the hand, or slowness of movements. Brisk deep-tendon reflexes in the legs, ankle clonus, and/or the striatal toe (dystonic extension of the big toe) are present in many affected individuals. In general, gradual progression to generalized dystonia is observed. Intellectual, cerebellar, sensory, and autonomic disturbances generally do not occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342121">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401500"><div><strong>Autosomal recessive juvenile Parkinson disease 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401500</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.">C1868675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Parkin type of early-onset Parkinson disease (PARK-Parkin) is characterized by the cardinal signs of Parkinson disease (PD): bradykinesia, resting tremor, and rigidity. The median age at onset is 31 years (range: 3-81 years). The disease is slowly progressive: disease duration of more than 50 years has been reported. Clinical findings vary; hyperreflexia is common. Lower-limb dystonia may be a presenting sign and cognitive decline appears to be no more frequent than in the general population. Dyskinesia as a result of treatment with levodopa frequently occurs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401500">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_813052"><div><strong>X-linked parkinsonism-spasticity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813052</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.">C3806722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic neurological disorder with characteristics of parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. There is evidence this disease is caused by hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813052">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934737"><div><strong>Developmental and epileptic encephalopathy, 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934737</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.">C4310770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-37 (DEE37) is an autosomal recessive epileptic-dyskinetic neurologic disorder characterized by the onset of intractable seizures or abnormal movements in the first months or years of life. Patients typically have normal or only mildly delayed development in early infancy, but then show developmental regression and stagnation after the onset of seizures, which can occur between about 6 months to 2 years of age. In addition to epileptic encephalopathy, affected individuals also manifest a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. There is severely impaired intellectual development and function, loss of verbal skills with absent speech, and impaired volitional movements (summary by Madeo et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934737">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648355"><div><strong>Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648355</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.">C4748984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The MCIDDS syndrome is characterized by microcephaly and growth retardation, congenital cataracts, impaired intellectual development with attention deficit-hyperactivity disorder, and dystonia, with striatal thinning seen on MRI (Al-Owain et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648355">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1802087"><div><strong>Neurodevelopmental disorder with or without variable movement or behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802087</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.">C5676908</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) is an autosomal dominant disorder characterized by mildly to severely impaired intellectual development and, in some patients, movement abnormalities consisting of tremors, cerebellar ataxia, or extrapyramidal symptoms. Movement abnormalities have onset in childhood or adolescence. Other variable features include autism spectrum disorder or autistic features and epilepsy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1802087">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1814585"><div><strong>Classic dopamine transporter deficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814585</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.">C5700336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SLC6A3-related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (by age 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood). Classic early-onset DTDS: Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). Over time, affected individuals develop parkinsonism-dystonia characterized by bradykinesia (progressing to akinesia), dystonic posturing, distal tremor, rigidity, and reduced facial expression. Limitation of voluntary movements leads to severe motor delay. Episodic status dystonicus, exacerbations of dystonia, and secondary orthopedic, gastrointestinal, and respiratory complications are common. Many affected individuals appear to show relative preservation of intellect with good cognitive development. Atypical later-onset DTDS: Normal psychomotor development in infancy and early childhood. Attention-deficit/hyperactivity disorder (ADHD) is reported in childhood followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term prognosis of this form of DTDS is currently unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1814585">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1857802"><div><strong>Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857802</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.">C5935590</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability (Kuipers et al., 2018; Al-Kasbi et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1857802">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_401500" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive juvenile Parkinson disease 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375289" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biotin-responsive basal ganglia disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1814585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Classic dopamine transporter deficiency syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_168057" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of ferroxidase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 37</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208674" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset parkinsonism-intellectual disability syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648355" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1802087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with or without variable movement or behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339504" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 19/22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 21</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked parkinsonism-spasticity syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31733693">Diagnosis and Differential Diagnosis of Parkinson Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caproni S,
|
||
Colosimo C</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2020 Feb;36(1):13-24.
|
||
Epub 2019 Sep 17
|
||
doi: 10.1016/j.cger.2019.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31733693" target="_blank">31733693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28511263">Diagnosis and Treatment of Functional (Psychogenic) Parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaFaver K,
|
||
Espay AJ</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
2017 Apr;37(2):228-232.
|
||
Epub 2017 May 16
|
||
doi: 10.1055/s-0037-1601487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28511263" target="_blank">28511263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21933950">Diagnosis and treatment of psychogenic parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jankovic J</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2011 Dec;82(12):1300-3.
|
||
Epub 2011 Sep 20
|
||
doi: 10.1136/jnnp-2011-300876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21933950" target="_blank">21933950</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cogwheel%20rigidity%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 (5)</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/30799335">Parkinsonism Relating to Intoxication with Glyphosate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eriguchi M,
|
||
Iida K,
|
||
Ikeda S,
|
||
Osoegawa M,
|
||
Nishioka K,
|
||
Hattori N,
|
||
Nagayama H,
|
||
Hara H</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2019 Jul 1;58(13):1935-1938.
|
||
Epub 2019 Feb 25
|
||
doi: 10.2169/internalmedicine.2028-18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30799335" target="_blank">30799335</a><a href="/pmc/articles/PMC6663540" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29960586">Jaw tremor: a manifestation of vascular parkinsonism? - a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Udagedara TB,
|
||
Gooneratne IK</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2018 Jun 30;18(1):92.
|
||
doi: 10.1186/s12883-018-1093-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29960586" target="_blank">29960586</a><a href="/pmc/articles/PMC6026506" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2392220">Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Orozco Diaz G,
|
||
Nodarse Fleites A,
|
||
Cordovés Sagaz R,
|
||
Auburger G</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1990 Sep;40(9):1369-75.
|
||
doi: 10.1212/wnl.40.9.1369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2392220" target="_blank">2392220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2833878">Extrapyramidal and other neurologic manifestations associated with carbon disulfide fumigant exposure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters HA,
|
||
Levine RL,
|
||
Matthews CG,
|
||
Chapman LJ</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1988 May;45(5):537-40.
|
||
doi: 10.1001/archneur.1988.00520290069016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2833878" target="_blank">2833878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6508450">Adult onset idiopathic familial brain calcifications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harati Y,
|
||
Jackson JA,
|
||
Benjamin E</span><br />
|
||
<span class="medgenPMjournal">Arch Intern Med</span>
|
||
1984 Dec;144(12):2425-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6508450" target="_blank">6508450</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cogwheel%20rigidity%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34334283">Sporadic Creutzfeldt-Jakob disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salehi P,
|
||
Clark M,
|
||
Pinzon J,
|
||
Patil A</span><br />
|
||
<span class="medgenPMjournal">Am J Emerg Med</span>
|
||
2022 Feb;52:267.e1-267.e3.
|
||
Epub 2021 Jul 22
|
||
doi: 10.1016/j.ajem.2021.07.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34334283" target="_blank">34334283</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31733693">Diagnosis and Differential Diagnosis of Parkinson Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caproni S,
|
||
Colosimo C</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2020 Feb;36(1):13-24.
|
||
Epub 2019 Sep 17
|
||
doi: 10.1016/j.cger.2019.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31733693" target="_blank">31733693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27719845">Psychogenic (functional) parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thenganatt MA,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2016;139:259-262.
|
||
doi: 10.1016/B978-0-12-801772-2.00022-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27719845" target="_blank">27719845</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25187976">"Toilet cake" encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Moreno A</span><br />
|
||
<span class="medgenPMjournal">J Addict Med</span>
|
||
2014 Nov-Dec;8(6):474-5.
|
||
doi: 10.1097/ADM.0000000000000073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25187976" target="_blank">25187976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22035024">Premotor symptoms and early diagnosis of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adler CH</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
2011;121 Suppl 2:3-8.
|
||
doi: 10.3109/00207454.2011.620192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22035024" target="_blank">22035024</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cogwheel%20rigidity%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 (51)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38081104">Unraveling the role of miRNAs in the diagnosis, progression, and therapeutic intervention of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohammed OA,
|
||
Elballal MS,
|
||
El-Husseiny AA,
|
||
Khidr EG,
|
||
El Tabaa MM,
|
||
Elazazy O,
|
||
Abd-Elmawla MA,
|
||
Elesawy AE,
|
||
Ibrahim HM,
|
||
Abulsoud AI,
|
||
El-Dakroury WA,
|
||
Abdel Mageed SS,
|
||
Elrebehy MA,
|
||
Nomier Y,
|
||
Abdel-Reheim MA,
|
||
El-Husseiny HM,
|
||
Mahmoud AMA,
|
||
Saber S,
|
||
Doghish AS</span><br />
|
||
<span class="medgenPMjournal">Pathol Res Pract</span>
|
||
2024 Jan;253:155023.
|
||
Epub 2023 Dec 10
|
||
doi: 10.1016/j.prp.2023.155023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38081104" target="_blank">38081104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30799335">Parkinsonism Relating to Intoxication with Glyphosate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eriguchi M,
|
||
Iida K,
|
||
Ikeda S,
|
||
Osoegawa M,
|
||
Nishioka K,
|
||
Hattori N,
|
||
Nagayama H,
|
||
Hara H</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2019 Jul 1;58(13):1935-1938.
|
||
Epub 2019 Feb 25
|
||
doi: 10.2169/internalmedicine.2028-18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30799335" target="_blank">30799335</a><a href="/pmc/articles/PMC6663540" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25187976">"Toilet cake" encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Moreno A</span><br />
|
||
<span class="medgenPMjournal">J Addict Med</span>
|
||
2014 Nov-Dec;8(6):474-5.
|
||
doi: 10.1097/ADM.0000000000000073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25187976" target="_blank">25187976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23608871">Paradichlorobenzene (toxin)-induced leucoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buckman F</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Apr 22;2013
|
||
doi: 10.1136/bcr-2013-009407.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23608871" target="_blank">23608871</a><a href="/pmc/articles/PMC3645783" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/474825">Cogwheel rigidity during chronic lithium therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asnis GM,
|
||
Asnis D,
|
||
Dunner DL,
|
||
Fieve RR</span><br />
|
||
<span class="medgenPMjournal">Am J Psychiatry</span>
|
||
1979 Sep;136(9):1225-6.
|
||
doi: 10.1176/ajp.136.9.1225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/474825" target="_blank">474825</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cogwheel%20rigidity%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 (54)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34791639">Mid-life extrapyramidal symptoms predict cognitive impairment 23 years later.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holtback C,
|
||
Welin C,
|
||
Fu M,
|
||
Thunström E,
|
||
Rosengren A,
|
||
Lappas G,
|
||
Hansson PO</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2022 Mar;145(3):305-313.
|
||
Epub 2021 Nov 17
|
||
doi: 10.1111/ane.13557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34791639" target="_blank">34791639</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18660736">Early diagnosis of Parkinson's disease and initiation of treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiner WJ</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol Dis</span>
|
||
2008 Spring;5(2):46-53; quiz 54-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18660736" target="_blank">18660736</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15726580">Parkinsonism in the course of HTLV-I-associated myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Puccioni-Sohler M,
|
||
Papais-Alvarenga R,
|
||
de Souza PM,
|
||
de França SC,
|
||
Gonçalves RR,
|
||
Jacobson S</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2005 May;20(5):613-5.
|
||
doi: 10.1002/mds.20402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15726580" target="_blank">15726580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8564916">Neuroleptic dosing and neuroleptic plasma levels in schizophrenia: determining the optimal regimen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shriqui CL</span><br />
|
||
<span class="medgenPMjournal">Can J Psychiatry</span>
|
||
1995 Sep;40(7 Suppl 2):S38-48.
|
||
doi: 10.1177/070674379504007s03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8564916" target="_blank">8564916</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1781967">Cognitive decline in patients with Alzheimer disease: differences in patients with and without extrapyramidal signs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller TP,
|
||
Tinklenberg JR,
|
||
Brooks JO 3rd,
|
||
Yesavage JA</span><br />
|
||
<span class="medgenPMjournal">Alzheimer Dis Assoc Disord</span>
|
||
1991 Winter;5(4):251-6.
|
||
doi: 10.1097/00002093-199100540-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1781967" target="_blank">1781967</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cogwheel%20rigidity%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37578921">Modeling, Control, and Clinical Validation of an Upper-Limb Medical Education Task Trainer for Elbow Spasticity and Rigidity Assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pei Y,
|
||
Mansouri M,
|
||
Zallek CM,
|
||
Hsiao-Wecksler ET</span><br />
|
||
<span class="medgenPMjournal">IEEE Trans Neural Syst Rehabil Eng</span>
|
||
2023;31:3320-3330.
|
||
Epub 2023 Aug 21
|
||
doi: 10.1109/TNSRE.2023.3304951.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37578921" target="_blank">37578921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34791639">Mid-life extrapyramidal symptoms predict cognitive impairment 23 years later.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holtback C,
|
||
Welin C,
|
||
Fu M,
|
||
Thunström E,
|
||
Rosengren A,
|
||
Lappas G,
|
||
Hansson PO</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2022 Mar;145(3):305-313.
|
||
Epub 2021 Nov 17
|
||
doi: 10.1111/ane.13557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34791639" target="_blank">34791639</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24655437">Ultrasonographic (TCS) and clinical findings in overlapping phenotype of essential tremor and Parkinson's disease (ET-PD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laučkaitė K,
|
||
Rastenytė D,
|
||
Šurkienė D,
|
||
Vaidelytė B,
|
||
Dambrauskaitė G,
|
||
Sakalauskas A,
|
||
Vaitkus A,
|
||
Gleiznienė R</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2014 Mar 22;14:54.
|
||
doi: 10.1186/1471-2377-14-54.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24655437" target="_blank">24655437</a><a href="/pmc/articles/PMC3998107" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16034864">Sertindole for schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis R,
|
||
Bagnall AM,
|
||
Leitner M</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2005 Jul 20;2005(3):CD001715.
|
||
doi: 10.1002/14651858.CD001715.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16034864" target="_blank">16034864</a><a href="/pmc/articles/PMC7025766" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8564916">Neuroleptic dosing and neuroleptic plasma levels in schizophrenia: determining the optimal regimen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shriqui CL</span><br />
|
||
<span class="medgenPMjournal">Can J Psychiatry</span>
|
||
1995 Sep;40(7 Suppl 2):S38-48.
|
||
doi: 10.1177/070674379504007s03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8564916" target="_blank">8564916</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cogwheel%20rigidity%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 (18)</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/16034864">Sertindole for schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lewis R,
|
||
Bagnall AM,
|
||
Leitner M</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2005 Jul 20;2005(3):CD001715.
|
||
doi: 10.1002/14651858.CD001715.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16034864" target="_blank">16034864</a><a href="/pmc/articles/PMC7025766" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cogwheel%20rigidity%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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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=(%22cogwheel%20rigidity%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Cogwheel%20rigidity%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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