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<meta name="keywords" content="C0018991, hemiplegia, hemiplegia (paralysis on one side), hemiplegias, infantile hemiplegia, paralysis on one side of body, postnatal infantile hemiplegia, 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="Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=9196
|
||
ConceptID=C0018991
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hemiplegia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9196</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:">C0018991</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hemiplegias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hemiplegia (paralysis on one side) (50582007); Hemiplegia (50582007)</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:0002301">HP:0002301</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001170" target="_blank">MONDO:0001170</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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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">Hemiplegia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="TLline"><a href="/medgen/333241" ref="tree=MeSH" title="MedGen record for Upper motor neuron dysfunction">Upper motor neuron dysfunction</a></span><ul><li><span class="TLline"><a href="/medgen/866899" ref="tree=MeSH" title="MedGen record for Weakness due to upper motor neuron dysfunction">Weakness due to upper motor neuron dysfunction</a></span><ul><li><span class="TLline"><a href="/medgen/852561" ref="tree=MeSH" title="MedGen record for Hemiplegia/hemiparesis">Hemiplegia/hemiparesis</a></span><ul><li><span class="matched_ds">Hemiplegia</span><ul><li><span class="TLline"><a href="/medgen/350828" ref="tree=MeSH" title="MedGen record for Episodic hemiplegia">Episodic hemiplegia</a></span></li><li><span class="TLline"><a href="/medgen/630098" ref="tree=MeSH" title="MedGen record for Left hemiplegia">Left hemiplegia</a></span></li><li><span class="TLline"><a href="/medgen/630097" ref="tree=MeSH" title="MedGen record for Right hemiplegia">Right hemiplegia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_5288"><div><strong>Fucosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5288</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.">C0016788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78641"><div><strong>Adenylosuccinate lyase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78641</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.">C0268126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by Baresova et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78641">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78695"><div><strong>Sulfite oxidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78695</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.">C0268624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of isolated sulfite oxidase deficiency ranges from classic early-onset (severe) disease to late-onset (mild) disease. Classic ISOD is characterized in the first few hours to days of life by intractable seizures, feeding difficulties, and rapidly progressive encephalopathy manifest as abnormal tone (especially opisthotonus, spastic quadriplegia, and pyramidal signs) followed by progressive microcephaly and profound intellectual disability. Lens subluxation or dislocation, another characteristic finding, may be evident after the newborn period. Children usually die during the first few months of life. Late-onset ISOD manifests between ages six and 18 months and is characterized by ectopia lentis (variably present), developmental delay/regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and (rarely) acute hemiplegia as a result of metabolic stroke. The clinical course may be progressive or episodic. In the episodic form encephalopathy, dystonia, choreoathetosis, and/or ataxia are intermittent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78695">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_76449"><div><strong>Sneddon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>76449</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.">C0282492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/76449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331388"><div><strong>Migraine, familial hemiplegic, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331388</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.">C1832884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331388">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334829"><div><strong>Migraine with or without aura, susceptibility to, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334829</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.">C1843765</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/334829">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_400366"><div><strong>Familial hemophagocytic lymphohistiocytosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400366</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.">C1863727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/400366">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_400655"><div><strong>Migraine, familial hemiplegic, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400655</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.">C1864987</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400655">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_355962"><div><strong>Migraine, familial hemiplegic, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355962</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.">C1865322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390739"><div><strong>Episodic ataxia type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390739</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.">C2675211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/390739">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482600"><div><strong>Porencephaly 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482600</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.">C3280970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482600">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482830"><div><strong>Leukoencephalopathy with calcifications and cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482830</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.">C3281200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996). See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC; 612199), an autosomal recessive disorder caused by mutation in the CTC1 gene (613129) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482830">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766702"><div><strong>Alternating hemiplegia of childhood 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766702</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.">C3553788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">ATP1A3-related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of childhood (AHC); cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome; relapsing encephalopathy with cerebellar ataxia (RECA) / fever-induced paroxysmal weakness and encephalopathy (FIPWE); and rapid-onset dystonia-parkinsonism (RDP). These phenotypes exist on a spectrum and should be regarded as classifications of convenience. AHC is characterized by onset prior to age 18 months of paroxysmal hemiplegic episodes, predominately involving the limbs and/or the whole body, lasting from minutes to hours to days (and sometimes weeks) with remission only during sleep, only to resume after awakening. Although paroxysmal episodic neurologic dysfunction predominates early in the disease course, with age increasingly persistent neurologic dysfunction predominates, including oculomotor apraxia and strabismus, dysarthria, speech and language delay, developmental delay, and impairment in social skills. Other system involvement may include cardiovascular (cardiac conduction abnormalities) and gastrointestinal (constipation, vomiting, anorexia, diarrhea, nausea, and abdominal pain) manifestations. CAPOS syndrome presents in infancy or childhood (usually ages 6 months to 5 years) with cerebellar ataxia during or after a fever. The acute febrile encephalopathy may include hypotonia, flaccidity, nystagmus, strabismus, dysarthria/anarthria, lethargy, loss of consciousness, and even coma. Usually, considerable recovery occurs within days to weeks; however, persistence of some degree of ataxia and other manifestations is typical. RECA/FIPWE primarily presents with fever-induced episodes (infancy to age 5 years); however, first episodes can occur occasionally in young adults during illnesses such as mononucleosis. Recurrent fever-induced episodes may be ataxia-dominated RECA-like motor manifestations or FIPWE-like non-motor manifestations (encephalopathy) and can vary among affected individuals. Notably, RECA-like and FIPWE-like manifestations can occur in the same individual in different episodes. In some individuals episodes seem to decrease in frequency and severity over time, whereas others might experience worsening of manifestations. RDP presents in individuals ages 18 months to 60 years and older with dystonia that is typically of abrupt onset over hours to several weeks, though some individuals report gradual onset over the course of months. A stress-related trigger is identifiable in up to 75% of individuals. Dystonia rarely improves significantly after onset; some individuals report mild improvement over time, whereas others can experience subsequent episodes of abrupt worsening months to years after onset. Limbs are usually the first to be affected, although by the time of diagnosis – typically many years after onset – individuals most commonly display a bulbar-predominant generalized dystonia. Exceptions are common and a rostrocaudal gradient is rare rather than typical. Migraines and seizures are also observed.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/766702">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_854497"><div><strong>Vasculitis due to ADA2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854497</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.">C3887654</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/854497">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934741"><div><strong>Intellectual disability, autosomal dominant 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934741</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.">C4310774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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||
<div class="spaceAbove">GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1642840"><div><strong>Familial hemophagocytic lymphohistiocytosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642840</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.">C4551514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642840">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1647320"><div><strong>Brain small vessel disease 1 with or without ocular anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647320</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.">C4551998</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647320">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1636142"><div><strong>Cerebroretinal microangiopathy with calcifications and cysts 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636142</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.">C4552029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1636142">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648410"><div><strong>Combined immunodeficiency due to DOCK8 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648410</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.">C4722305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hyper-IgE syndrome-2 with recurrent infections (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. It is distinguished from autosomal dominant HIES1 (147060) by the lack of connective tissue and skeletal involvement (Renner et al., 2004). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see 147060. See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648410">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adenylosuccinate lyase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alternating hemiplegia of childhood 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain small vessel disease 1 with or without ocular anomalies</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1636142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebroretinal microangiopathy with calcifications and cysts 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648410" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency due to DOCK8 deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic ataxia type 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642840" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hemophagocytic lymphohistiocytosis type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fucosidosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 42</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukoencephalopathy with calcifications and cysts</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine with or without aura, susceptibility to, 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine, familial hemiplegic, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine, familial hemiplegic, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine, familial hemiplegic, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Porencephaly 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_76449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sneddon syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78695" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sulfite oxidase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vasculitis due to ADA2 deficiency</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/36281002">Recent advances in the management of hemiplegic shoulder pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noor MB,
|
||
Rashid M,
|
||
Younas U,
|
||
Rathore FA</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2022 Sep;72(9):1882-1884.
|
||
doi: 10.47391/JPMA.22-97.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36281002" target="_blank">36281002</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34713283">Carotid artery stenosis: An approach to its diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arasu R,
|
||
Arasu A,
|
||
Muller J</span><br />
|
||
<span class="medgenPMjournal">Aust J Gen Pract</span>
|
||
2021 Nov;50(11):821-825.
|
||
doi: 10.31128/AJGP-10-20-5664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34713283" target="_blank">34713283</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33675603">A Clinical Practice Guideline for the Use of Ankle-Foot Orthoses and Functional Electrical Stimulation Post-Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston TE,
|
||
Keller S,
|
||
Denzer-Weiler C,
|
||
Brown L</span><br />
|
||
<span class="medgenPMjournal">J Neurol Phys Ther</span>
|
||
2021 Apr 1;45(2):112-196.
|
||
doi: 10.1097/NPT.0000000000000347.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33675603" target="_blank">33675603</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hemiplegia%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 (175)</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/24787341">Hemiplegic shoulder pain: an approach to diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasudevan JM,
|
||
Browne BJ</span><br />
|
||
<span class="medgenPMjournal">Phys Med Rehabil Clin N Am</span>
|
||
2014 May;25(2):411-37.
|
||
Epub 2014 Mar 14
|
||
doi: 10.1016/j.pmr.2014.01.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24787341" target="_blank">24787341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23940374">Hemiplegic shoulder pain: a common clinical consequence of stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coskun Benlidayi I,
|
||
Basaran S</span><br />
|
||
<span class="medgenPMjournal">Pract Neurol</span>
|
||
2014 Apr;14(2):88-91.
|
||
Epub 2013 Aug 12
|
||
doi: 10.1136/practneurol-2013-000606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23940374" target="_blank">23940374</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9251281">Hemiplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raman TS,
|
||
Surendran KK,
|
||
Gupta RK,
|
||
Gupta AK,
|
||
Ravichander,
|
||
Sood SL</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1997 Jan;34(1):55-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9251281" target="_blank">9251281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2391521">Assessing motor impairment after stroke: a pilot reliability study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collin C,
|
||
Wade D</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1990 Jul;53(7):576-9.
|
||
doi: 10.1136/jnnp.53.7.576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2391521" target="_blank">2391521</a><a href="/pmc/articles/PMC488133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6932722">Post-stroke hemiplegia and ADL-performance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fugl-Meyer AR,
|
||
Jääskö L</span><br />
|
||
<span class="medgenPMjournal">Scand J Rehabil Med Suppl</span>
|
||
1980;7:140-52.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6932722" target="_blank">6932722</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemiplegia%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 (3670)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38043964">Alternating hemiplegia of childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ananthavarathan P,
|
||
Kamourieh S</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;198:221-227.
|
||
doi: 10.1016/B978-0-12-823356-6.00005-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38043964" target="_blank">38043964</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26522903">Hemiplegic Shoulder Pain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson RD,
|
||
Chae J</span><br />
|
||
<span class="medgenPMjournal">Phys Med Rehabil Clin N Am</span>
|
||
2015 Nov;26(4):641-55.
|
||
Epub 2015 Sep 9
|
||
doi: 10.1016/j.pmr.2015.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26522903" target="_blank">26522903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9251281">Hemiplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raman TS,
|
||
Surendran KK,
|
||
Gupta RK,
|
||
Gupta AK,
|
||
Ravichander,
|
||
Sood SL</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
1997 Jan;34(1):55-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9251281" target="_blank">9251281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2391521">Assessing motor impairment after stroke: a pilot reliability study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collin C,
|
||
Wade D</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1990 Jul;53(7):576-9.
|
||
doi: 10.1136/jnnp.53.7.576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2391521" target="_blank">2391521</a><a href="/pmc/articles/PMC488133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4875466">Acute infantile hemiplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carter S,
|
||
Gold AP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1967 Nov;14(4):851-64.
|
||
doi: 10.1016/s0031-3955(16)32060-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4875466" target="_blank">4875466</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemiplegia%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 (3376)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37074234">BOBATH vs. TASK-ORIENTED TRAINING AFTER STROKE: An assessor-blind randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sütçü G,
|
||
Özçakar L,
|
||
Yalçın Aİ,
|
||
Kılınç M</span><br />
|
||
<span class="medgenPMjournal">Brain Inj</span>
|
||
2023 Jun 7;37(7):581-587.
|
||
Epub 2023 Apr 19
|
||
doi: 10.1080/02699052.2023.2203519.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37074234" target="_blank">37074234</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35249330">Effects of physical therapy-based rehabilitation on recovery of upper limb motor function after stroke in adults: a systematic review and meta-analysis of randomized controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang J,
|
||
Ji JR,
|
||
Liang C,
|
||
Zhang YZ,
|
||
Sun HC,
|
||
Yan YH,
|
||
Xing XB</span><br />
|
||
<span class="medgenPMjournal">Ann Palliat Med</span>
|
||
2022 Feb;11(2):521-531.
|
||
doi: 10.21037/apm-21-3710.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35249330" target="_blank">35249330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30932166">Constraint-induced movement therapy in children with unilateral cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoare BJ,
|
||
Wallen MA,
|
||
Thorley MN,
|
||
Jackman ML,
|
||
Carey LM,
|
||
Imms C</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Apr 1;4(4):CD004149.
|
||
doi: 10.1002/14651858.CD004149.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30932166" target="_blank">30932166</a><a href="/pmc/articles/PMC6442500" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30193810">Virtual Reality in Upper Extremity Rehabilitation of Stroke Patients: A Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ikbali Afsar S,
|
||
Mirzayev I,
|
||
Umit Yemisci O,
|
||
Cosar Saracgil SN</span><br />
|
||
<span class="medgenPMjournal">J Stroke Cerebrovasc Dis</span>
|
||
2018 Dec;27(12):3473-3478.
|
||
Epub 2018 Sep 5
|
||
doi: 10.1016/j.jstrokecerebrovasdis.2018.08.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30193810" target="_blank">30193810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21216670">Fluoxetine for motor recovery after acute ischaemic stroke (FLAME): a randomised placebo-controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chollet F,
|
||
Tardy J,
|
||
Albucher JF,
|
||
Thalamas C,
|
||
Berard E,
|
||
Lamy C,
|
||
Bejot Y,
|
||
Deltour S,
|
||
Jaillard A,
|
||
Niclot P,
|
||
Guillon B,
|
||
Moulin T,
|
||
Marque P,
|
||
Pariente J,
|
||
Arnaud C,
|
||
Loubinoux I</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2011 Feb;10(2):123-30.
|
||
Epub 2011 Jan 7
|
||
doi: 10.1016/S1474-4422(10)70314-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21216670" target="_blank">21216670</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemiplegia%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 (2622)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32660109">Incidence, Prevalence, and Risk Factors of Hemiplegic Shoulder Pain: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anwer S,
|
||
Alghadir A</span><br />
|
||
<span class="medgenPMjournal">Int J Environ Res Public Health</span>
|
||
2020 Jul 9;17(14)
|
||
doi: 10.3390/ijerph17144962.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32660109" target="_blank">32660109</a><a href="/pmc/articles/PMC7400080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27618499">Gait analysis: clinical facts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker R,
|
||
Esquenazi A,
|
||
Benedetti MG,
|
||
Desloovere K</span><br />
|
||
<span class="medgenPMjournal">Eur J Phys Rehabil Med</span>
|
||
2016 Aug;52(4):560-74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27618499" target="_blank">27618499</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24757096">Nocardia brain abscess.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nandhagopal R,
|
||
Al-Muharrmi Z,
|
||
Balkhair A</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2014 Dec;107(12):1041-2.
|
||
Epub 2014 Apr 21
|
||
doi: 10.1093/qjmed/hcu088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24757096" target="_blank">24757096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9259942">Massive fetomaternal hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akanli LF,
|
||
Cohen-Addad NE,
|
||
Malabanan NV,
|
||
Margono F,
|
||
Krilov MA</span><br />
|
||
<span class="medgenPMjournal">Am J Perinatol</span>
|
||
1997 May;14(5):271-3.
|
||
doi: 10.1055/s-2007-994142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9259942" target="_blank">9259942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2391521">Assessing motor impairment after stroke: a pilot reliability study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collin C,
|
||
Wade D</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1990 Jul;53(7):576-9.
|
||
doi: 10.1136/jnnp.53.7.576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2391521" target="_blank">2391521</a><a href="/pmc/articles/PMC488133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemiplegia%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 (2089)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37573592">Effect of Water Exercise Therapy on Lower Limb Function Rehabilitation in Hemiplegic Patients with the First Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bei N,
|
||
Long D,
|
||
Bei Z,
|
||
Chen Y,
|
||
Chen Z,
|
||
Xing Z</span><br />
|
||
<span class="medgenPMjournal">Altern Ther Health Med</span>
|
||
2023 Oct;29(7):429-433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37573592" target="_blank">37573592</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35345897">Robot-Assisted Training as Self-Training for Upper-Limb Hemiplegia in Chronic Stroke: A Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takebayashi T,
|
||
Takahashi K,
|
||
Amano S,
|
||
Gosho M,
|
||
Sakai M,
|
||
Hashimoto K,
|
||
Hachisuka K,
|
||
Uchiyama Y,
|
||
Domen K</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2022 Jul;53(7):2182-2191.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1161/STROKEAHA.121.037260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35345897" target="_blank">35345897</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30193810">Virtual Reality in Upper Extremity Rehabilitation of Stroke Patients: A Randomized Controlled Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ikbali Afsar S,
|
||
Mirzayev I,
|
||
Umit Yemisci O,
|
||
Cosar Saracgil SN</span><br />
|
||
<span class="medgenPMjournal">J Stroke Cerebrovasc Dis</span>
|
||
2018 Dec;27(12):3473-3478.
|
||
Epub 2018 Sep 5
|
||
doi: 10.1016/j.jstrokecerebrovasdis.2018.08.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30193810" target="_blank">30193810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15939004">Complex regional pain syndrome underdiagnosed.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quisel A,
|
||
Gill JM,
|
||
Witherell P</span><br />
|
||
<span class="medgenPMjournal">J Fam Pract</span>
|
||
2005 Jun;54(6):524-32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15939004" target="_blank">15939004</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15856440">Prechtl's assessment of general movements: a diagnostic tool for the functional assessment of the young nervous system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Einspieler C,
|
||
Prechtl HF</span><br />
|
||
<span class="medgenPMjournal">Ment Retard Dev Disabil Res Rev</span>
|
||
2005;11(1):61-7.
|
||
doi: 10.1002/mrdd.20051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15856440" target="_blank">15856440</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemiplegia%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 (2615)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36867588">Effects of Hippotherapy on Postural Control in Children With Cerebral Palsy: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peia F,
|
||
Veiga NC,
|
||
Gomes AP,
|
||
Santos BND,
|
||
Marques NMS,
|
||
Glória IPDS,
|
||
Goulardins JB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Phys Ther</span>
|
||
2023 Apr 1;35(2):202-210.
|
||
Epub 2023 Mar 3
|
||
doi: 10.1097/PEP.0000000000000999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36867588" target="_blank">36867588</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35249330">Effects of physical therapy-based rehabilitation on recovery of upper limb motor function after stroke in adults: a systematic review and meta-analysis of randomized controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang J,
|
||
Ji JR,
|
||
Liang C,
|
||
Zhang YZ,
|
||
Sun HC,
|
||
Yan YH,
|
||
Xing XB</span><br />
|
||
<span class="medgenPMjournal">Ann Palliat Med</span>
|
||
2022 Feb;11(2):521-531.
|
||
doi: 10.21037/apm-21-3710.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35249330" target="_blank">35249330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30932166">Constraint-induced movement therapy in children with unilateral cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoare BJ,
|
||
Wallen MA,
|
||
Thorley MN,
|
||
Jackman ML,
|
||
Carey LM,
|
||
Imms C</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Apr 1;4(4):CD004149.
|
||
doi: 10.1002/14651858.CD004149.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30932166" target="_blank">30932166</a><a href="/pmc/articles/PMC6442500" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29357280">Effectiveness of Neuromuscular Electrical Stimulation on Lower Limbs of Patients With Hemiplegia After Chronic Stroke: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hong Z,
|
||
Sui M,
|
||
Zhuang Z,
|
||
Liu H,
|
||
Zheng X,
|
||
Cai C,
|
||
Jin D</span><br />
|
||
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
|
||
2018 May;99(5):1011-1022.e1.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.apmr.2017.12.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29357280" target="_blank">29357280</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28343442">Effectiveness of neuromuscular electrical stimulation for management of shoulder subluxation post-stroke: a systematic review with meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JH,
|
||
Baker LL,
|
||
Johnson RE,
|
||
Tilson JK</span><br />
|
||
<span class="medgenPMjournal">Clin Rehabil</span>
|
||
2017 Nov;31(11):1431-1444.
|
||
Epub 2017 Mar 27
|
||
doi: 10.1177/0269215517700696.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28343442" target="_blank">28343442</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemiplegia%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 (114)</a></div></div>
|
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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=(%22hemiplegia%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(%22Hemiplegia%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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