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<!--
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UID=854367
|
||
ConceptID=C3887506
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperkinetic movements</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854367</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.">C3887506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hyperkinesis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hyperkinesia (44548000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002487">HP:0002487</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">Motor hyperactivity with excessive movement of muscles of the body as a whole. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_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">Hyperkinetic movements</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/10113" ref="tree=MeSH" title="MedGen record for Movement disorder">Movement disorder</a></span><ul><li><span class="TLline"><a href="/medgen/8514" ref="tree=MeSH" title="MedGen record for Dyskinesia">Dyskinesia</a></span><ul><li><span class="matched_ds">Hyperkinetic movements</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_120652"><div><strong>Hypervalinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120652</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.">C0268573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Valinemia is an inborn error of metabolism characterized clinically by vomiting, feeding difficulties, hypotonia, and developmental delay, and biochemically by high concentrations of valine in serum and urine (Wada, 1965).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120652">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_124340"><div><strong>Succinate-semialdehyde dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124340</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:">C0268631</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Succinic semialdehyde dehydrogenase (SSADH) deficiency is characterized by a relatively non-progressive encephalopathy typically presenting with hypotonia and delayed acquisition of motor and language developmental milestones in the first two years of life. Common clinical features include an almost universal intellectual disability and adaptive function deficits, as well as epilepsy, autism spectrum disorder, movement disorders (such as ataxia, dystonia, and exertional dyskinesia), sleep disturbances, attention problems, anxiety, and obsessive-compulsive behaviors. Notably, seizures, autism spectrum disorder features, and behavioral problems tend to worsen around the time of late childhood or early adolescence. Affected individuals do not usually have episodic decompensation following metabolic stressors, as is typical of other organic acidemias and metabolic encephalopathies, although some have been diagnosed after having unanticipated difficulty recovering from otherwise ordinary childhood illnesses. Clinical presentation with acute onset of generalized hypotonia and choreiform movement following upper-respiratory tract infection has been observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/124340">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_901885"><div><strong>X-linked intellectual disability-short stature-overweight syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901885</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.">C0796218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kumar-type X-linked syndromic intellectual developmental disorder (MRXSK) is an X-linked recessive disorder that shows phenotypic variability and multisystem involvement apparent from birth or early infancy. Most affected individuals are male, although 1 severely affected girl with a de novo THOC2 mutation has been reported. At the severe end of the spectrum, affected individuals have hypotonia, neonatal difficulties, failure to thrive with poor overall growth, feeding difficulties, respiratory insufficiency, visual impairment, profoundly impaired intellectual development with poor or absent speech, and motor abnormalities, such as inability to walk and hyperkinetic movements. Less severely affected individuals have mildly to moderately impaired intellectual development and speech delay. Additional features include behavioral abnormalities, hearing or visual defects, seizures, dysmorphic facial features, and brain imaging abnormalities (Kumar et al., 2015; Kumar et al., 2018; Kumar et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/901885">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344640"><div><strong>Methylcobalamin deficiency type cblE</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344640</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.">C1856057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344640">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382151"><div><strong>Combined PSAP deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382151</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.">C2673635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined saposin deficiency (PSAPD), a deficiency of prosaposin and saposins A, B, C, and D, is a fatal infantile storage disorder with hepatosplenomegaly and severe neurologic disease (summary by Hulkova et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/382151">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394455"><div><strong>Christianson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394455</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.">C2678194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Christianson syndrome (referred to as CS in this GeneReview), an X-linked disorder, is characterized in males by cognitive dysfunction, behavioral disorder, and neurologic findings (e.g., seizures, ataxia, postnatal microcephaly, and eye movement abnormalities). Males with CS typically present with developmental delay, later meeting criteria for severe intellectual disability (ID). Behaviorally, autism spectrum disorder and hyperactivity are common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result in failure to thrive. Seizures, typically beginning before age three years, can include infantile spasms and tonic, tonic-clonic, myoclonic, and atonic seizures. Subsequently, regression (e.g., loss of ambulation and ability to feed independently) may occur. Manifestations in heterozygous females range from asymptomatic to mild ID and/or behavioral issues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394455">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413170"><div><strong>Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413170</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.">C2749864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (SUCLA2-related mtDNA depletion syndrome) is characterized by onset of the following features in infancy: developmental delay, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, growth failure, and feeding difficulties. Other less frequent features include choreoathetosis, muscle weakness, recurrent vomiting, ptosis, and kyphoscoliosis. The median survival is age 20 years; approximately 30% of affected individuals succumb during childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413170">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462337"><div><strong>Developmental and epileptic encephalopathy, 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462337</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.">C3150987</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by Ogiwara et al., 2009; Howell et al., 2015; Wolff et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481912"><div><strong>Intellectual disability, autosomal dominant 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481912</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.">C3280282</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. To date, 72 individuals with GRIN1-NDD have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481912">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766992"><div><strong>Branched-chain keto acid dehydrogenase kinase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766992</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.">C3554078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766992">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815922"><div><strong>Mitochondrial DNA depletion syndrome 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815922</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.">C3809592</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a multi-system disorder characterized primarily by congenital or early-onset lactic acidosis and growth failure, feeding difficulty, hypotonia, and developmental delay. Other neurologic manifestations can include seizures, movement disorders, ataxia, autonomic dysfunction, and stroke-like episodes. All affected individuals alive at the time they were reported (median age: 3.5 years) demonstrated significant developmental delay. Other findings can involve the heart (hypertrophic cardiomyopathy, congenital heart malformations, arrhythmias), liver (mildly elevated transaminases), eyes (cataract, strabismus, nystagmus, optic atrophy), hearing (sensorineural hearing loss), and bone marrow (neutropenia, lymphopenia). Survival varies; the median age of reported deaths was two years (range 2 days – 75 months), although surviving individuals as old as 36 years have been reported. To date FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815922">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_904191"><div><strong>Hypomyelinating leukodystrophy 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904191</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.">C4225332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-10 (HLD10) is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging (summary by Nakayama et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904191">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934595"><div><strong>Optic atrophy 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934595</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.">C4310628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Optic atrophy-11 (OPA11) is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934595">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_1374697"><div><strong>Neurodevelopmental disorder with involuntary movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1374697</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.">C4479569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNAO1-related disorder encompasses a broad phenotypic continuum that includes hyperkinetic movement disorders and/or epilepsy and is typically associated with developmental delay and intellectual disability. Viewed by age of onset, three clusters in this continuum can be observed: (1) infantile-onset developmental and epileptic encephalopathy (DEE) with or without prominent movement disorder; (2) infantile- or early childhood-onset prominent movement disorder and neurodevelopmental disorder with or without childhood-onset epilepsy with varying seizure types; (3) later childhood- or adult-onset movement disorder with variable developmental delay and intellectual disability. Epilepsy can be either DEE (onset typically within the first year of life of drug-resistant epilepsy in which developmental delays are attributed to the underlying diagnosis as well as the impact of uncontrolled seizures) or varying seizure types (onset typically between ages three and ten years of focal or generalized tonic-clonic seizures that may be infrequent or well controlled with anti-seizure medications). Movement disorders are characterized by dystonia and choreoathetosis, most commonly a mixed pattern of persistent or paroxysmal dyskinesia that affects the whole body. Exacerbations of the hyperkinetic movement disorder, which can be spontaneous or triggered (e.g., by intercurrent illness, emotional stress, voluntary movements), can last minutes to weeks. Hyperkinetic crises (including status dystonicus) are characterized by temporarily increased and nearly continuous involuntary movements or dystonic posturing that can be life-threatening. Deaths in early childhood have been reported due to medically refractory epilepsy or hyperkinetic crises, but the phenotypic spectrum includes milder presentations, including in adults. As many adults with disabilities have not undergone advanced genetic testing, it is likely that adults with GNAO1-related disorder are underrecognized and underreported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1374697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385598"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type R18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385598</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.">C4517996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-18 (LGMDR18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1614787"><div><strong>Intellectual disability, autosomal dominant 54</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1614787</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.">C4540484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1614787">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648431"><div><strong>Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648431</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.">C4748715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures (summary by Baker et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648431">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648381"><div><strong>Developmental and epileptic encephalopathy, 69</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648381</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.">C4748988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-69 (DEE69) is an autosomal dominant severe neurodevelopmental encephalopathic disorder characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication (summary by Helbig et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648381">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1681879"><div><strong>Developmental and epileptic encephalopathy, 72</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681879</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.">C5193063</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-72 (DEE72) is neurologic disorder characterized by the onset of infantile spasms around 5 months of age. The seizures tend to be refractory to treatment. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills. Additional more variable features include hyperkinetic movements and cortical visual impairment (summary by Sega et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1681879">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1681181"><div><strong>Neurodevelopmental disorder with impaired speech and hyperkinetic movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1681181</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.">C5193088</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate (summary by Khan et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1681181">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1678038"><div><strong>Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1678038</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.">C5193128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is an autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding and may die of respiratory failure in childhood or in the second decade (summary by Gorman et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1678038">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1761611"><div><strong>Developmental and epileptic encephalopathy 89</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1761611</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.">C5436853</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by Chatron et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1761611">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1779648"><div><strong>Developmental and epileptic encephalopathy 6B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779648</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.">C5543353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1779648">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798887"><div><strong>Infantile-onset generalized dyskinesia with orofacial involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798887</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.">C5567464</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798887">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1810214"><div><strong>3-methylglutaconic aciduria, type VIIB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810214</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.">C5676893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CLPB (caseinolytic peptidase B) deficiency is characterized by neurologic involvement and neutropenia, which can range from severe to mild. In severe CLPB deficiency, death usually occurs at a few months of age due to significant neonatal neurologic involvement (hyperekplexia or absence of voluntary movements, hypotonia or hypertonia, swallowing problems, respiratory insufficiency, and epilepsy) and severe neutropenia associated with life-threatening infections. Individuals with moderate CLPB deficiency present with neurologic abnormalities in infancy including hypotonia and feeding problems, and develop spasticity, a progressive movement disorder (ataxia, dystonia, and/or dyskinesia), epilepsy, and intellectual disability. Neutropenia is variable, but not life threatening. In those with mild CLPB deficiency there is no neurologic involvement, intellect is normal, neutropenia is mild and intermittent, and life expectancy is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810214">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808365"><div><strong>Parkinsonism-dystonia 3, childhood-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808365</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.">C5676913</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The current (but limited) understanding of the WARS2 deficiency phenotypic spectrum, based on 29 individuals from 24 families reported to date, can be viewed as a clustering of hallmark features within the broad phenotypes of epilepsy and movement disorder. The epilepsy spectrum encompasses neonatal- or infantile-onset developmental and epileptic encephalopathy (DEE) and other less well described seizure types. DEE manifests mostly in the neonatal period or within the first year of life. Seizures are generally difficult to control and may lead to status epilepticus and death. Over time the following become evident: global developmental delay, mild-to-severe intellectual disability, speech impairment (slurred and slow speech, dysarthria or no speech production but preserved receptive speech), weakness and muscle atrophy, motor hyperactivity with athetosis, and neuropsychiatric manifestations including aggressiveness and sleep disorders. The movement disorder spectrum encompasses the overlapping phenotypes of levodopa-responsive parkinsonism/dystonia and progressive myoclonus-ataxia/hyperkinetic movement disorder and is primarily associated with childhood or early adulthood onset. Of note, the continua within and between the epilepsy spectrum and the movement disorder spectrum remain to be determined pending reporting of more individuals with WARS2 deficiency.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808365">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_1824013"><div><strong>Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824013</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.">C5774240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM) is an autosomal recessive syndromic disorder characterized primarily by neurologic deficits. Patients show global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. Other features include visual impairment due to optic atrophy, sensorineural hearing loss, and neuromuscular abnormalities. The severity is highly variable. The disorder is progressive; about half of patients show developmental regression with loss of previous skills. Features suggestive of a mitochondrial disorder include cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate. Some patients develop seizures, some have dysmorphic facial features, and some have nonspecific abnormalities on brain imaging. Death in childhood may occur (Kaiyrzhanov et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824013">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1848439"><div><strong>Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848439</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.">C5882675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay (CCDDRD) is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present. Additional features may include expressionless face, feeding or chewing difficulties due to oromotor dysfunction, and dysmorphic facial features (Dupont et al., 2021; Sheth et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1848439">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_988270"><div><strong>GTP cyclohydrolase I deficiency with hyperphenylalaninemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988270</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN305333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988270">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_989503"><div><strong>Congenital disorder of deglycosylation 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989503</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN306977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989503">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-methylglutaconic aciduria, type VIIB</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type R18</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branched-chain keto acid dehydrogenase kinase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Christianson syndrome</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="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (32)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined PSAP deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_989503" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of deglycosylation 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848439" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1779648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 6B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1761611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 89</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 11</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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 69</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681879" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 72</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_988270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GTP cyclohydrolase I deficiency with hyperphenylalaninemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypervalinemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_904191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile-onset generalized dyskinesia with orofacial involvement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1614787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 54</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylcobalamin deficiency type cblE</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815922" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1681181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with impaired speech and hyperkinetic movements</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1374697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with involuntary movements</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1678038" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808365" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonism-dystonia 3, childhood-onset</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Succinate-semialdehyde dehydrogenase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability-short stature-overweight 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/36729635">BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tangeraas T,
|
||
Constante JR,
|
||
Backe PH,
|
||
Oyarzábal A,
|
||
Neugebauer J,
|
||
Weinhold N,
|
||
Boemer F,
|
||
Debray FG,
|
||
Ozturk-Hism B,
|
||
Evren G,
|
||
Tuba EF,
|
||
Ummuhan O,
|
||
Footitt E,
|
||
Davison J,
|
||
Martinez C,
|
||
Bueno C,
|
||
Machado I,
|
||
Rodríguez-Pombo P,
|
||
Al-Sannaa N,
|
||
De Los Santos M,
|
||
López JM,
|
||
Ozturkmen-Akay H,
|
||
Karaca M,
|
||
Tekin M,
|
||
Pajares S,
|
||
Ormazabal A,
|
||
Stoway SD,
|
||
Artuch R,
|
||
Dixon M,
|
||
Mørkrid L,
|
||
García-Cazorla A</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Jul 3;146(7):3003-3013.
|
||
doi: 10.1093/brain/awad010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729635" target="_blank">36729635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34000162">Hyperkinetic Movements in Children: Differential Diagnosis, Evaluation, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dy-Hollins M,
|
||
Carr S,
|
||
Scharf J,
|
||
Sharma N,
|
||
Stern TA</span><br />
|
||
<span class="medgenPMjournal">Prim Care Companion CNS Disord</span>
|
||
2021 Apr 1;23(2)
|
||
doi: 10.4088/PCC.20f02840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34000162" target="_blank">34000162</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33934385">An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrini A,
|
||
Steel D,
|
||
Barwick K,
|
||
Kurian MA</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2021 May;36(5):1104-1114.
|
||
Epub 2021 May 2
|
||
doi: 10.1002/mds.28495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33934385" target="_blank">33934385</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperkinetic%20movements%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 (11)</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/39174246">Paroxysmal movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magrinelli F,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:145-156.
|
||
doi: 10.1016/B978-0-323-90820-7.00010-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174246" target="_blank">39174246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37424291">Neuropsychiatric phenotypes in functional movement disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilmour GS,
|
||
Langer LK,
|
||
Lang AE,
|
||
MacGillivray L,
|
||
Lidstone SC</span><br />
|
||
<span class="medgenPMjournal">CNS Spectr</span>
|
||
2023 Dec;28(6):747-755.
|
||
Epub 2023 Jul 10
|
||
doi: 10.1017/S1092852923002353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37424291" target="_blank">37424291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31779817">Parkinsonism in Huntington's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reilmann R</span><br />
|
||
<span class="medgenPMjournal">Int Rev Neurobiol</span>
|
||
2019;149:299-306.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1016/bs.irn.2019.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31779817" target="_blank">31779817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21496573">Spinocerebellar degenerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perlman SL</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2011;100:113-40.
|
||
doi: 10.1016/B978-0-444-52014-2.00006-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21496573" target="_blank">21496573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1979705">Tardive dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casey DE</span><br />
|
||
<span class="medgenPMjournal">West J Med</span>
|
||
1990 Nov;153(5):535-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1979705" target="_blank">1979705</a><a href="/pmc/articles/PMC1002605" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperkinetic%20movements%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (39)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38291845">Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Monfrini E,
|
||
Avanzino L,
|
||
Palermo G,
|
||
Bonato G,
|
||
Brescia G,
|
||
Ceravolo R,
|
||
Cantarella G,
|
||
Mandich P,
|
||
Prokisch H,
|
||
Storm Van's Gravesande K,
|
||
Straccia G,
|
||
Elia A,
|
||
Reale C,
|
||
Panteghini C,
|
||
Zorzi G,
|
||
Eleopra R,
|
||
Erro R,
|
||
Carecchio M,
|
||
Garavaglia B,
|
||
Zech M,
|
||
Romito L,
|
||
Di Fonzo A</span><br />
|
||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Jan;11(1):87-93.
|
||
Epub 2023 Dec 12
|
||
doi: 10.1002/mdc3.13927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38291845" target="_blank">38291845</a><a href="/pmc/articles/PMC10828607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37828390">Footloose (footloose), footloose.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mumoli L,
|
||
Magro G,
|
||
Bosco D</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2024 Feb;45(2):825-826.
|
||
Epub 2023 Oct 13
|
||
doi: 10.1007/s10072-023-07112-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37828390" target="_blank">37828390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36222771">Chorea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stimming EF,
|
||
Bega D</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Oct 1;28(5):1379-1408.
|
||
doi: 10.1212/CON.0000000000001169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36222771" target="_blank">36222771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36054588">The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Dueñas B,
|
||
Gorman K,
|
||
Marcé-Grau A,
|
||
Ortigoza-Escobar JD,
|
||
Macaya A,
|
||
Danti FR,
|
||
Barwick K,
|
||
Papandreou A,
|
||
Ng J,
|
||
Meyer E,
|
||
Mohammad SS,
|
||
Smith M,
|
||
Muntoni F,
|
||
Munot P,
|
||
Uusimaa J,
|
||
Vieira P,
|
||
Sheridan E,
|
||
Guerrini R,
|
||
Cobben J,
|
||
Yilmaz S,
|
||
De Grandis E,
|
||
Dale RC,
|
||
Pons R,
|
||
Peall KJ,
|
||
Leuzzi V,
|
||
Kurian MA</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 Nov;37(11):2197-2209.
|
||
Epub 2022 Aug 25
|
||
doi: 10.1002/mds.29182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36054588" target="_blank">36054588</a><a href="/pmc/articles/PMC9804670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34000162">Hyperkinetic Movements in Children: Differential Diagnosis, Evaluation, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dy-Hollins M,
|
||
Carr S,
|
||
Scharf J,
|
||
Sharma N,
|
||
Stern TA</span><br />
|
||
<span class="medgenPMjournal">Prim Care Companion CNS Disord</span>
|
||
2021 Apr 1;23(2)
|
||
doi: 10.4088/PCC.20f02840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34000162" target="_blank">34000162</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperkinetic%20movements%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 (70)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38176223">Levodopa for Dystonia in Children: A Case Series and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DeArias AL,
|
||
Bamford NS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2024 Mar;152:16-19.
|
||
Epub 2023 Dec 19
|
||
doi: 10.1016/j.pediatrneurol.2023.12.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38176223" target="_blank">38176223</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36222771">Chorea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stimming EF,
|
||
Bega D</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Oct 1;28(5):1379-1408.
|
||
doi: 10.1212/CON.0000000000001169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36222771" target="_blank">36222771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32279716">Treatment of Tardive Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bashir HH,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 May;38(2):379-396.
|
||
Epub 2020 Feb 28
|
||
doi: 10.1016/j.ncl.2020.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32279716" target="_blank">32279716</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22761271">Off spells and dyskinesias: pharmacologic management of motor complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan TS</span><br />
|
||
<span class="medgenPMjournal">Cleve Clin J Med</span>
|
||
2012 Jul;79 Suppl 2:S8-13.
|
||
doi: 10.3949/ccjm.79.s2a.02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22761271" target="_blank">22761271</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1979705">Tardive dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casey DE</span><br />
|
||
<span class="medgenPMjournal">West J Med</span>
|
||
1990 Nov;153(5):535-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1979705" target="_blank">1979705</a><a href="/pmc/articles/PMC1002605" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperkinetic%20movements%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 (39)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38041194">The improvement of motor symptoms in Huntington's disease during cariprazine treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Csehi R,
|
||
Molnar V,
|
||
Fedor M,
|
||
Zsumbera V,
|
||
Palasti A,
|
||
Acsai K,
|
||
Grosz Z,
|
||
Nemeth G,
|
||
Molnar MJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Dec 1;18(1):375.
|
||
doi: 10.1186/s13023-023-02930-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38041194" target="_blank">38041194</a><a href="/pmc/articles/PMC10690981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36130841">Clinical Reasoning: A Teenage Girl With Progressive Hyperkinetic Movements, Seizures, and Encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khamis S,
|
||
Mitakidou MR,
|
||
Champion M,
|
||
Goyal S,
|
||
Jones RL,
|
||
Siddiqui A,
|
||
Sabanathan S,
|
||
Hedderly T,
|
||
Lin JP,
|
||
Jungbluth H,
|
||
Papandreou A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jan 3;100(1):30-37.
|
||
Epub 2022 Sep 21
|
||
doi: 10.1212/WNL.0000000000201385.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36130841" target="_blank">36130841</a><a href="/pmc/articles/PMC9827126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36222771">Chorea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stimming EF,
|
||
Bega D</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Oct 1;28(5):1379-1408.
|
||
doi: 10.1212/CON.0000000000001169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36222771" target="_blank">36222771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12404112">Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dobson-Stone C,
|
||
Danek A,
|
||
Rampoldi L,
|
||
Hardie RJ,
|
||
Chalmers RM,
|
||
Wood NW,
|
||
Bohlega S,
|
||
Dotti MT,
|
||
Federico A,
|
||
Shizuka M,
|
||
Tanaka M,
|
||
Watanabe M,
|
||
Ikeda Y,
|
||
Brin M,
|
||
Goldfarb LG,
|
||
Karp BI,
|
||
Mohiddin S,
|
||
Fananapazir L,
|
||
Storch A,
|
||
Fryer AE,
|
||
Maddison P,
|
||
Sibon I,
|
||
Trevisol-Bittencourt PC,
|
||
Singer C,
|
||
Caballero IR,
|
||
Aasly JO,
|
||
Schmierer K,
|
||
Dengler R,
|
||
Hiersemenzel LP,
|
||
Zeviani M,
|
||
Meiner V,
|
||
Lossos A,
|
||
Johnson S,
|
||
Mercado FC,
|
||
Sorrentino G,
|
||
Dupré N,
|
||
Rouleau GA,
|
||
Volkmann J,
|
||
Arpa J,
|
||
Lees A,
|
||
Geraud G,
|
||
Chouinard S,
|
||
Németh A,
|
||
Monaco AP</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2002 Nov;10(11):773-81.
|
||
doi: 10.1038/sj.ejhg.5200866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12404112" target="_blank">12404112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1979705">Tardive dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casey DE</span><br />
|
||
<span class="medgenPMjournal">West J Med</span>
|
||
1990 Nov;153(5):535-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1979705" target="_blank">1979705</a><a href="/pmc/articles/PMC1002605" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperkinetic%20movements%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37828390">Footloose (footloose), footloose.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mumoli L,
|
||
Magro G,
|
||
Bosco D</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2024 Feb;45(2):825-826.
|
||
Epub 2023 Oct 13
|
||
doi: 10.1007/s10072-023-07112-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37828390" target="_blank">37828390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36729635">BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tangeraas T,
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Constante JR,
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Backe PH,
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Oyarzábal A,
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Neugebauer J,
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Weinhold N,
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Boemer F,
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Debray FG,
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Ozturk-Hism B,
|
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Evren G,
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Tuba EF,
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Ummuhan O,
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Footitt E,
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Davison J,
|
||
Martinez C,
|
||
Bueno C,
|
||
Machado I,
|
||
Rodríguez-Pombo P,
|
||
Al-Sannaa N,
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||
De Los Santos M,
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||
López JM,
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||
Ozturkmen-Akay H,
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||
Karaca M,
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Tekin M,
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Pajares S,
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||
Ormazabal A,
|
||
Stoway SD,
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||
Artuch R,
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||
Dixon M,
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||
Mørkrid L,
|
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García-Cazorla A</span><br />
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<span class="medgenPMjournal">Brain</span>
|
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2023 Jul 3;146(7):3003-3013.
|
||
doi: 10.1093/brain/awad010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729635" target="_blank">36729635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36054588">The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Dueñas B,
|
||
Gorman K,
|
||
Marcé-Grau A,
|
||
Ortigoza-Escobar JD,
|
||
Macaya A,
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||
Danti FR,
|
||
Barwick K,
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||
Papandreou A,
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||
Ng J,
|
||
Meyer E,
|
||
Mohammad SS,
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Smith M,
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||
Muntoni F,
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Munot P,
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Uusimaa J,
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||
Vieira P,
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||
Sheridan E,
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||
Guerrini R,
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Cobben J,
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||
Yilmaz S,
|
||
De Grandis E,
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||
Dale RC,
|
||
Pons R,
|
||
Peall KJ,
|
||
Leuzzi V,
|
||
Kurian MA</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 Nov;37(11):2197-2209.
|
||
Epub 2022 Aug 25
|
||
doi: 10.1002/mds.29182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36054588" target="_blank">36054588</a><a href="/pmc/articles/PMC9804670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31779817">Parkinsonism in Huntington's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reilmann R</span><br />
|
||
<span class="medgenPMjournal">Int Rev Neurobiol</span>
|
||
2019;149:299-306.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1016/bs.irn.2019.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31779817" target="_blank">31779817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11381253">A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rampoldi L,
|
||
Dobson-Stone C,
|
||
Rubio JP,
|
||
Danek A,
|
||
Chalmers RM,
|
||
Wood NW,
|
||
Verellen C,
|
||
Ferrer X,
|
||
Malandrini A,
|
||
Fabrizi GM,
|
||
Brown R,
|
||
Vance J,
|
||
Pericak-Vance M,
|
||
Rudolf G,
|
||
Carrè S,
|
||
Alonso E,
|
||
Manfredi M,
|
||
Németh AH,
|
||
Monaco AP</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2001 Jun;28(2):119-20.
|
||
doi: 10.1038/88821.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11381253" target="_blank">11381253</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperkinetic%20movements%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 (40)</a></div></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/32908795">Vitamin D and Hyperkinetic Movement Disorders: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homann CN,
|
||
Ivanic G,
|
||
Homann B,
|
||
Purkart TU</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2020 Aug 25;10:32.
|
||
doi: 10.5334/tohm.74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32908795" target="_blank">32908795</a><a href="/pmc/articles/PMC7453965" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperkinetic%20movements%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(%22Hyperkinetic%20movements%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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