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<!--
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UID=14619
|
||
ConceptID=C0030554
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Paresthesia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14619</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.">C0030554</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>Paresthesias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Paresthesia (91019004); Paresthesia (numbness/tingling) (91019004)</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:0003401">HP:0003401</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">Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. [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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0030554[DISCUI]&test_type=Clinical" ref="ncbi_uid=14619">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=14619" ref="ncbi_uid=14619">V</a></span></span><span class="TLline">Paresthesia</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/1790456" ref="tree=MeSH" title="MedGen record for Somatic sensory dysfunction">Somatic sensory dysfunction</a></span><ul><li><span class="TLline"><a href="/medgen/1779297" ref="tree=MeSH" title="MedGen record for Abnormal exteroceptive sensation">Abnormal exteroceptive sensation</a></span><ul><li><span class="matched_ds">Paresthesia</span><ul><li><span class="TLline"><a href="/medgen/66692" ref="tree=MeSH" title="MedGen record for Acroparesthesia">Acroparesthesia</a></span><ul><li><span class="TLline"><a href="/medgen/536934" ref="tree=MeSH" title="MedGen record for Hand paresthesia">Hand paresthesia</a></span></li></ul></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 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_8083"><div><strong>Fabry disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8083</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.">C0002986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of kidney function to end-stage kidney disease (ESKD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESKD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; kidney failure, associated with ESKD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8083">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_56452"><div><strong>Acute intermittent porphyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56452</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.">C0162565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An acute porphyria attack is characterized by a urine porphobilinogen (PBG)-to-creatinine ratio =10 times the upper limit of normal (ULN) and the presence of =2 porphyria manifestations (involving the visceral, peripheral, autonomic, and/or central nervous systems) persisting for >24 hours in the absence of other likely explanations. Onset of acute attacks typically occurs in the second or third decade of life. Acute attacks are more common in women than men. Although attacks in most individuals are typically caused by exposure to certain endogenous or exogenous factors, often no precipitating factor can be identified. The course of acute porphyria attacks is highly variable in an individual and between individuals. Recovery from acute porphyria attacks may occur within days; however, recovery from severe attacks that are not promptly recognized and treated may take weeks or months. The five categories of acute intermittent porphyria (AIP), caused by a heterozygous HMBS pathogenic variant, are based on the urine PBG-to-creatinine ratio and occurrence of acute attacks. Active (symptomatic) AIP: An individual who has experienced at least one acute attack within the last two years. Symptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years but chronic long-standing manifestations of acute porphyria. Asymptomatic high excreter: Urine PBG-to-creatinine ratio =4 times ULN and no acute attacks in the last two years and no porphyria-related manifestations. Asymptomatic AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute attacks in the last two years but has had =1 acute attack in the past. Latent (inactive) AIP: Urine PBG-to-creatinine ratio <4 times ULN and no acute porphyria-related manifestations to date.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56452">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78659"><div><strong>Porphobilinogen synthase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78659</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.">C0268328</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients (Jaffe and Stith, 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78659">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75681"><div><strong>Familial hypokalemia-hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75681</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.">C0268450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75681">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75728"><div><strong>Charcot-Marie-Tooth disease type 1C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75728</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.">C0270913</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78750"><div><strong>Sarcotubular myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78750</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.">C0270968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78750">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_129128"><div><strong>Cronkhite-Canada syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>129128</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.">C0282207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It is associated with high morbidity (summary by Sweetser et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/129128">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_87438"><div><strong>Autosomal dominant hypocalcemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87438</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.">C0342345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant hypocalcemia-1 (HYPOC1) is associated with low or normal serum parathyroid hormone concentrations (PTH). Approximately 50% of patients have mild or asymptomatic hypocalcemia; about 50% have paresthesias, carpopedal spasm, and seizures; about 10% have hypercalciuria with nephrocalcinosis or kidney stones; and more than 35% have ectopic and basal ganglia calcifications (summary by Nesbit et al., 2013). Thakker (2001) noted that patients with gain-of-function mutations in the CASR gene, resulting in generally asymptomatic hypocalcemia with hypercalciuria, have low-normal serum PTH concentrations and have often been diagnosed with hypoparathyroidism because of the insensitivity of earlier PTH assays. Because treatment with vitamin D to correct the hypocalcemia in these patients causes hypercalciuria, nephrocalcinosis, and renal impairment, these patients need to be distinguished from those with other forms of hypoparathyroidism (see 146200). Thakker (2001) suggested the designation 'autosomal dominant hypocalcemic hypercalciuria' for this CASR-related disorder. Genetic Heterogeneity of Autosomal Dominant Hypocalcemia Autosomal dominant hypocalcemia-2 (HYPOC2; 615361) is caused by mutation in the GNA11 gene (139313) on chromosome 19p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87438">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90993"><div><strong>Transcobalamin I deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90993</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.">C0342700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90993">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_196689"><div><strong>Chiari type I malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196689</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.">C0750929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196689">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155703"><div><strong>Spinocerebellar ataxia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155703</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.">C0752120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of upgaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155703">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_235598"><div><strong>Hereditary intrinsic factor deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235598</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.">C1394891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intrinsic factor deficiency (IFD), or congenital pernicious anemia, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_314039"><div><strong>Episodic ataxia type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314039</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.">C1720416</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314039">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371427"><div><strong>Dystonia 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371427</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.">C1832855</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glucose transporter type 1 deficiency syndrome (Glut1DS) is a disorder of brain energy metabolism. Glucose, the essential metabolic fuel for the brain, is transported into the brain exclusively by the protein glucose transporter type 1 (Glut1) across the endothelial cells forming the blood-brain barrier (BBB). Glut1DS results from the inability of Glut1 to transfer sufficient glucose across the BBB to meet the glucose demands of the brain. The needs of the brain for glucose increase rapidly after birth, peaking in early childhood, remaining high until about age 10 years, then gradually decreasing throughout adolescence and plateauing in early adulthood. When first diagnosed in infancy to early childhood, the predominant clinical findings of Glut1DS are paroxysmal eye-head movements, pharmacoresistant seizures of varying types, deceleration of head growth, and developmental delay. Subsequently children develop complex movement disorders and intellectual disability ranging from mild to severe. Institution of ketogenic diet therapies (KDTs) helps with early neurologic growth and development and seizure control. Typically, the earlier the treatment the better the long-term clinical outcome. When first diagnosed in later childhood to adulthood (occasionally in a parent following the diagnosis of an affected child), the predominant clinical findings of Glut1DS are usually complex paroxysmal movement disorders, spasticity, ataxia, dystonia, speech difficulty, and intellectual disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371427">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342338"><div><strong>Adult polyglucosan body disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342338</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.">C1849722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron involvement, sensory loss predominantly in the distal lower extremities, autonomic dysfunction (associated with orthostatic hypotension and constipation), and mild cognitive difficulties (often executive dysfunction). Some affected individuals without classic GBE1-APBD have atypical phenotypes including Alzheimer disease-like dementia and axonal neuropathy, stroke-like episodes, and diaphragmatic failure; others may have a history of infantile liver disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342338">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344563"><div><strong>Channelopathy-associated congenital insensitivity to pain, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344563</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.">C1855739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343428"><div><strong>Bartter disease type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343428</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.">C1855849</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343428">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343470"><div><strong>Homocystinuria due to methylene tetrahydrofolate reductase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343470</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.">C1856061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified (Rosenblatt et al., 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343470">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355727"><div><strong>Bartter disease type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355727</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.">C1866495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355727">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358269"><div><strong>Multiple sclerosis, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358269</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.">C1868685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system (CNS) with various degrees of axonal damage. MS affects mainly young adults with predominance for females. The disorder often leads to substantial disability (summary by Bomprezzi et al., 2003). Genetic Heterogeneity of Susceptibility to Multiple Sclerosis Additional MS susceptibility loci include MS2 (612594) on chromosome 10p15, MS3 (612595) on chromosome 5p13, MS4 (612596) on chromosome 1p36, and MS5 (614810), conferred by variation in the TNFRSF1A gene (191190) on chromosome 12p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358269">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_360293"><div><strong>Restless legs syndrome, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>360293</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.">C1876177</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003). Genetic Heterogeneity of Restless Legs Syndrome RLS1 has been mapped to chromosome 12q. Other susceptibility loci for RLS include RLS2 (608831) on chromosome 14q13-q31; RLS3 (610438) on chromosome 9p24-p22; RLS4 (610439) on chromosome 2q33; RLS5 (611242) on chromosome 20p13; RLS6 (611185) on chromosome 6p21; RLS7 (612853) on chromosome 2p14; and RLS8 (615197) on chromosome 5q31.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/360293">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414044"><div><strong>Cerebral amyloid angiopathy, APP-related</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414044</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.">C2751536</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Strokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus).\n\nThe first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties.\n\nTwo types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type also have clouding of the lens of the eyes (cataracts) and deafness.\n\nPeople with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia.\n\nThe Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).\n\nThere are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause, which determines whether areas of the brain other than blood vessels are affected, and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed.\n\nHereditary cerebral amyloid angiopathy is a condition characterized by an abnormal buildup of protein clumps called amyloid deposits in the blood vessels in the brain, causing vascular disease (angiopathy). People with hereditary cerebral amyloid angiopathy often have progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414044">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462322"><div><strong>Neuropathy, hereditary sensory, type 1D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462322</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.">C3150972</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. Compared to other forms of autosomal dominant hereditary spastic paraplegia (HSP), in which diminished vibration sense (caused by degeneration of the corticospinal tracts and dorsal columns) and urinary bladder hyperactivity are present in all affected individuals, these findings occur in a minority of individuals with SPG3A. The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of the first decade of life. Most persons with early-onset ATL1-HSP have a "pure" ("uncomplicated") HSP; however, complicated HSP with axonal motor neuropathy and/or distal amyotrophy with lower motor neuron involvement (Silver syndrome phenotype) has been observed. The rate of progression in ATL1-HSP is slow, and wheelchair dependency or need for a walking aid (cane, walker, or wheelchair) is relatively rare.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815573"><div><strong>Autosomal dominant hypocalcemia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815573</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.">C3809243</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815573">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_865256"><div><strong>Imerslund-Grasbeck syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>865256</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.">C4016819</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic Aciduria Methylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; 302060), is caused by mutation in the tafazzin gene (TAZ; 300394) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3; 258501), caused by mutation in the OPA3 gene (606580) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4; 250951) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5; 610198), caused by mutation in the DNAJC19 gene (608977) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6; 614739), caused by mutation in the SERAC1 gene (614725) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7B, 616271 and MGCA7A, 619835), caused by mutation in the CLPB gene (616254) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MGCA (MGCA8; 617248) is caused by mutation in the HTRA2 gene (606441) on chromosome 2p13. Type IX MGCA (MGCA9; 617698) is caused by mutation in the TIMM50 gene (607381) on chromosome 19q13. Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003. Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/865256">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1622554"><div><strong>Syringomyelia, isolated</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1622554</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.">C4538540</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Syringomyelia (Greek: 'syrinx,' pipe, and 'myelos,' marrow) is a tubular cavity in the spinal cord. It can occur sporadically in association with spinal cord tumors, inflammatory arachnoiditis, or posttraumatically. It is rarely idiopathic (less than 1% of cases). The vast majority of cases of syringomyelia are cervical, noncommunicating, and associated with an abnormality at the foramen magnum, particularly the Chiari malformation type I (CM1; 118420), as well as basilar impression (109500) and Dandy-Walker malformation (220200) (Speer et al., 2003; Levine, 2004); these cases have shown familial segregation. The form of syringomyelia discussed here is 'noncommunicating' with the fourth ventricle, but may communicate with the subarachnoid space. In contrast, 'communicating' syringomyelia, or 'hydromelia,' opens rostrally into the fourth ventricle and almost always occurs in children with hydrocephalus, Chiari malformation type II (CM2; 207950), and spina bifida (see 182940) (Levine, 2004).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1622554">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1759445"><div><strong>Spastic paraplegia 83, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1759445</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.">C5436637</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal recessive spastic paraplegia-83 (SPG83) is a neurologic disorder characterized by progressive lower limb spasticity resulting in gait instability. Patients develop symptoms in the second decade, consistent with juvenile onset. Some patients may have myalgia or mild dysarthria, but the phenotype is considered to be a pure type of SPG with no additional neurologic abnormalities (summary by Husain et al., 2020). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1759445">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1786836"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786836</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.">C5543119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7) is characterized by onset of lower leg weakness in the first decade. Affected individuals have difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy. The disorder is slowly progressive and often involves the upper limbs. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. Sensory abnormalities are not typically present, and patients remain ambulatory. The phenotype shows phenotypic overlap with distal hereditary motor neuropathy, but can distinguished by the presence of myopathic features (summary by Deschauer et al., 2021 and Pagnamenta et al., 2021). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1786836">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1800473"><div><strong>Charcot-Marie-Tooth disease axonal type 2V</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800473</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.">C5569050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1800473">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800507"><div><strong>Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800507</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.">C5569084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015). The phenotype is highly variable: all patients appear to have episodic and severe liver dysfunction in early childhood that tends to resolve with age. Affected individuals also show mild developmental or language delay and/or later onset of variable neurologic features, such as motor dysfunction (summary by Lenz et al., 2018).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1800507">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1844217"><div><strong>Spastic paraplegia 18a, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1844217</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.">C5882694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-18A (SPG18A) is an autosomal dominant disorder characterized by a pure form of hereditary spastic paraplegia phenotype (summary by Rydning et al., 2018).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1844217">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800507" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute intermittent porphyria</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult polyglucosan body disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant hypocalcemia 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815573" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant hypocalcemia 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (31)', 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_355727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartter disease type 2</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral amyloid angiopathy, APP-related</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Channelopathy-associated congenital insensitivity to pain, autosomal recessive</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease axonal type 2V</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 1C</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_196689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chiari type I malformation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_129128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cronkhite-Canada syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonia 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_314039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic ataxia type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_8083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fabry disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75681" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypokalemia-hypomagnesemia</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_235598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary intrinsic factor deficiency</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Homocystinuria due to methylene tetrahydrofolate reductase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_865256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Imerslund-Grasbeck syndrome type 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358269" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple sclerosis, susceptibility to</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory, type 1D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Porphobilinogen synthase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_360293" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restless legs syndrome, susceptibility to, 1</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcotubular myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1844217" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 18a, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1759445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 83, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155703" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1622554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syringomyelia, isolated</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transcobalamin I 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/32918837">Current concepts in the management of diabetic polyneuropathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ziegler D,
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Papanas N,
|
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Schnell O,
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Nguyen BDT,
|
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Nguyen KT,
|
||
Kulkantrakorn K,
|
||
Deerochanawong C</span><br />
|
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<span class="medgenPMjournal">J Diabetes Investig</span>
|
||
2021 Apr;12(4):464-475.
|
||
Epub 2020 Oct 11
|
||
doi: 10.1111/jdi.13401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32918837" target="_blank">32918837</a><a href="/pmc/articles/PMC8015839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29848235">American Thyroid Association Statement on Postoperative Hypoparathyroidism: Diagnosis, Prevention, and Management in Adults.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Orloff LA,
|
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Wiseman SM,
|
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Bernet VJ,
|
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Fahey TJ 3rd,
|
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Shaha AR,
|
||
Shindo ML,
|
||
Snyder SK,
|
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Stack BC Jr,
|
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Sunwoo JB,
|
||
Wang MB</span><br />
|
||
<span class="medgenPMjournal">Thyroid</span>
|
||
2018 Jul;28(7):830-841.
|
||
Epub 2018 Jun 29
|
||
doi: 10.1089/thy.2017.0309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29848235" target="_blank">29848235</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22157097">Success criteria in implant dentistry: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papaspyridakos P,
|
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Chen CJ,
|
||
Singh M,
|
||
Weber HP,
|
||
Gallucci GO</span><br />
|
||
<span class="medgenPMjournal">J Dent Res</span>
|
||
2012 Mar;91(3):242-8.
|
||
Epub 2011 Dec 8
|
||
doi: 10.1177/0022034511431252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22157097" target="_blank">22157097</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22paresthesia%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 (241)</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/33579879">Inferior alveolar nerve damage secondary to orthodontic treatment: A systematic scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">AlAli AM,
|
||
AlAnzi TH</span><br />
|
||
<span class="medgenPMjournal">Int J Risk Saf Med</span>
|
||
2021;32(3):175-191.
|
||
doi: 10.3233/JRS-200098.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33579879" target="_blank">33579879</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27321102">Chemotherapy-induced peripheral neuropathy - epidemiology and pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iżycki D,
|
||
Niezgoda A,
|
||
Kaźmierczak M,
|
||
Nowak-Markwitz E</span><br />
|
||
<span class="medgenPMjournal">Ginekol Pol</span>
|
||
2016;87(4):293-9.
|
||
doi: 10.17772/gp/61750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27321102" target="_blank">27321102</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23306010">Imaging features of rhinoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schatz CJ,
|
||
Ginat DT</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2014 Feb;35(2):216-22.
|
||
Epub 2013 Jan 10
|
||
doi: 10.3174/ajnr.A3443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23306010" target="_blank">23306010</a><a href="/pmc/articles/PMC7965743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14518626">Backpacking-induced paresthesias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boulware DR</span><br />
|
||
<span class="medgenPMjournal">Wilderness Environ Med</span>
|
||
2003 Fall;14(3):161-6.
|
||
doi: 10.1580/1080-6032(2003)14[161:bp]2.0.co;2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14518626" target="_blank">14518626</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3519037">Lacunar infarcts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kappelle LJ,
|
||
van Gijn J</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
1986;88(1):3-17.
|
||
doi: 10.1016/0303-8467(86)90002-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3519037" target="_blank">3519037</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paresthesia%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 (3273)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31168209">NOTALGIA PARESTHETICA.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Šitum M,
|
||
Kolić M,
|
||
Franceschi N,
|
||
Pećina M</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Croat</span>
|
||
2018 Dec;57(4):721-725.
|
||
doi: 10.20471/acc.2018.57.04.14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31168209" target="_blank">31168209</a><a href="/pmc/articles/PMC6544103" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30488891">Notalgia paraesthetica.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbas A,
|
||
Etti R</span><br />
|
||
<span class="medgenPMjournal">J R Coll Physicians Edinb</span>
|
||
2018 Dec;48(4):336-337.
|
||
doi: 10.4997/JRCPE.2017.412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30488891" target="_blank">30488891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25770571">Paraesthesia and peripheral neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beran R</span><br />
|
||
<span class="medgenPMjournal">Aust Fam Physician</span>
|
||
2015 Mar;44(3):92-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25770571" target="_blank">25770571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10913733">Neck-tongue syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chedrawi AK,
|
||
Fishman MA,
|
||
Miller G</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2000 May;22(5):397-9.
|
||
doi: 10.1016/s0887-8994(00)00139-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10913733" target="_blank">10913733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9608615">Sensory mononeuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massey EW</span><br />
|
||
<span class="medgenPMjournal">Semin Neurol</span>
|
||
1998;18(2):177-83.
|
||
doi: 10.1055/s-2008-1040871.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9608615" target="_blank">9608615</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paresthesia%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 (3131)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38311738">Comparison of effectiveness and safety of lasmiditan and CGRP-antagonists for the acute treatment of migraine in adults: systematic review and network meta-analysis of randomised trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deng X,
|
||
Zhou L,
|
||
Liang C,
|
||
Shang X,
|
||
Hui X,
|
||
Liu W,
|
||
Liang S,
|
||
Wang Y,
|
||
Xu M,
|
||
Guo K,
|
||
Yang K,
|
||
Li X</span><br />
|
||
<span class="medgenPMjournal">J Headache Pain</span>
|
||
2024 Feb 5;25(1):16.
|
||
doi: 10.1186/s10194-024-01723-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38311738" target="_blank">38311738</a><a href="/pmc/articles/PMC10840250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38245324">Spinal cord stimulation in painful diabetic neuropathy: An overview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petersen EA</span><br />
|
||
<span class="medgenPMjournal">Diabetes Res Clin Pract</span>
|
||
2023 Dec;206 Suppl 1:110760.
|
||
doi: 10.1016/j.diabres.2023.110760.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38245324" target="_blank">38245324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32861217">Esketamine Nasal Spray for Rapid Reduction of Depressive Symptoms in Patients With Major Depressive Disorder Who Have Active Suicide Ideation With Intent: Results of a Phase 3, Double-Blind, Randomized Study (ASPIRE II).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ionescu DF,
|
||
Fu DJ,
|
||
Qiu X,
|
||
Lane R,
|
||
Lim P,
|
||
Kasper S,
|
||
Hough D,
|
||
Drevets WC,
|
||
Manji H,
|
||
Canuso CM</span><br />
|
||
<span class="medgenPMjournal">Int J Neuropsychopharmacol</span>
|
||
2021 Jan 20;24(1):22-31.
|
||
doi: 10.1093/ijnp/pyaa068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32861217" target="_blank">32861217</a><a href="/pmc/articles/PMC7816667" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32969971">The Efficacy of Lasmiditan for the Treatment of Migraine: A Meta-Analysis of Randomized Controlled Studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu H,
|
||
Tang Y,
|
||
Zhou T,
|
||
Song J</span><br />
|
||
<span class="medgenPMjournal">Clin Neuropharmacol</span>
|
||
2020 Nov/Dec;43(6):191-195.
|
||
doi: 10.1097/WNF.0000000000000417.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32969971" target="_blank">32969971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24591201">Randomized trial of bendamustine-rituximab or R-CHOP/R-CVP in first-line treatment of indolent NHL or MCL: the BRIGHT study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flinn IW,
|
||
van der Jagt R,
|
||
Kahl BS,
|
||
Wood P,
|
||
Hawkins TE,
|
||
Macdonald D,
|
||
Hertzberg M,
|
||
Kwan YL,
|
||
Simpson D,
|
||
Craig M,
|
||
Kolibaba K,
|
||
Issa S,
|
||
Clementi R,
|
||
Hallman DM,
|
||
Munteanu M,
|
||
Chen L,
|
||
Burke JM</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2014 May 8;123(19):2944-52.
|
||
Epub 2014 Mar 3
|
||
doi: 10.1182/blood-2013-11-531327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24591201" target="_blank">24591201</a><a href="/pmc/articles/PMC4260975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paresthesia%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 (3761)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27637963">Peripheral neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanewinckel R,
|
||
Ikram MA,
|
||
Van Doorn PA</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2016;138:263-82.
|
||
doi: 10.1016/B978-0-12-802973-2.00015-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27637963" target="_blank">27637963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26700499">The epidemiology and risk factors of chronic polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanewinckel R,
|
||
van Oijen M,
|
||
Ikram MA,
|
||
van Doorn PA</span><br />
|
||
<span class="medgenPMjournal">Eur J Epidemiol</span>
|
||
2016 Jan;31(1):5-20.
|
||
Epub 2015 Dec 23
|
||
doi: 10.1007/s10654-015-0094-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26700499" target="_blank">26700499</a><a href="/pmc/articles/PMC4756033" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18649803">Rabies in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pfrimmer D</span><br />
|
||
<span class="medgenPMjournal">J Contin Educ Nurs</span>
|
||
2008 Jul;39(7):294-5.
|
||
doi: 10.3928/00220124-20080701-05.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18649803" target="_blank">18649803</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17484797">Extraction of impacted mandibular third molars: postoperative complications and their risk factors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blondeau F,
|
||
Daniel NG</span><br />
|
||
<span class="medgenPMjournal">J Can Dent Assoc</span>
|
||
2007 May;73(4):325.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17484797" target="_blank">17484797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14518626">Backpacking-induced paresthesias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boulware DR</span><br />
|
||
<span class="medgenPMjournal">Wilderness Environ Med</span>
|
||
2003 Fall;14(3):161-6.
|
||
doi: 10.1580/1080-6032(2003)14[161:bp]2.0.co;2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14518626" target="_blank">14518626</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paresthesia%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 (1745)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26337109">Delusional Infestation and Chronic Pruritus: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kimsey LS</span><br />
|
||
<span class="medgenPMjournal">Acta Derm Venereol</span>
|
||
2016 Mar;96(3):298-302.
|
||
doi: 10.2340/00015555-2236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26337109" target="_blank">26337109</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24611184">Quadrilateral space syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zurkiya O,
|
||
Walker TG</span><br />
|
||
<span class="medgenPMjournal">J Vasc Interv Radiol</span>
|
||
2014 Feb;25(2):229.
|
||
doi: 10.1016/j.jvir.2013.10.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24611184" target="_blank">24611184</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23306010">Imaging features of rhinoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schatz CJ,
|
||
Ginat DT</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2014 Feb;35(2):216-22.
|
||
Epub 2013 Jan 10
|
||
doi: 10.3174/ajnr.A3443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23306010" target="_blank">23306010</a><a href="/pmc/articles/PMC7965743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10913733">Neck-tongue syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chedrawi AK,
|
||
Fishman MA,
|
||
Miller G</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2000 May;22(5):397-9.
|
||
doi: 10.1016/s0887-8994(00)00139-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10913733" target="_blank">10913733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9521031">Scalp dysesthesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoss D,
|
||
Segal S</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
1998 Mar;134(3):327-30.
|
||
doi: 10.1001/archderm.134.3.327.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9521031" target="_blank">9521031</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paresthesia%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 (2030)</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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32633805">Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gertz MA,
|
||
Dispenzieri A</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2020 Jul 7;324(1):79-89.
|
||
doi: 10.1001/jama.2020.5493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32633805" target="_blank">32633805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31618674">Extrapelvic Endometriosis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andres MP,
|
||
Arcoverde FVL,
|
||
Souza CCC,
|
||
Fernandes LFC,
|
||
Abrão MS,
|
||
Kho RM</span><br />
|
||
<span class="medgenPMjournal">J Minim Invasive Gynecol</span>
|
||
2020 Feb;27(2):373-389.
|
||
Epub 2019 Oct 13
|
||
doi: 10.1016/j.jmig.2019.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31618674" target="_blank">31618674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29385792">Efficacy of micronized purified flavonoid fraction (Daflon®) on improving individual symptoms, signs and quality of life in patients with chronic venous disease: a systematic review and meta-analysis of randomized double-blind placebo-controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kakkos SK,
|
||
Nicolaides AN</span><br />
|
||
<span class="medgenPMjournal">Int Angiol</span>
|
||
2018 Apr;37(2):143-154.
|
||
Epub 2018 Jan 31
|
||
doi: 10.23736/S0392-9590.18.03975-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29385792" target="_blank">29385792</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28247977">Burning mouth syndrome: a systematic review of treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu YF,
|
||
Kim Y,
|
||
Yoo T,
|
||
Han P,
|
||
Inman JC</span><br />
|
||
<span class="medgenPMjournal">Oral Dis</span>
|
||
2018 Apr;24(3):325-334.
|
||
Epub 2017 Mar 30
|
||
doi: 10.1111/odi.12660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28247977" target="_blank">28247977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22157097">Success criteria in implant dentistry: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papaspyridakos P,
|
||
Chen CJ,
|
||
Singh M,
|
||
Weber HP,
|
||
Gallucci GO</span><br />
|
||
<span class="medgenPMjournal">J Dent Res</span>
|
||
2012 Mar;91(3):242-8.
|
||
Epub 2011 Dec 8
|
||
doi: 10.1177/0022034511431252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22157097" target="_blank">22157097</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Paresthesia%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 (196)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0030554%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
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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=(%22paresthesia%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(%22Paresthesia%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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