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<!--
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UID=82885
|
||
ConceptID=C0271683
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Motor polyneuropathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82885</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.">C0271683</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>Motor peripheral neuropathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Motor polyneuropathy (85423005)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007178">HP:0007178</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002316" target="_blank">MONDO:0002316</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">Inflammation or degeneration of the peripheral motor nerves. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Motor polyneuropathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><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/18386" ref="tree=MeSH" title="MedGen record for Peripheral neuropathy">Peripheral neuropathy</a></span><ul><li><span class="matched_ds">Motor polyneuropathy</span><ul><li><span class="TLline"><a href="/medgen/409836" ref="tree=MeSH" title="MedGen record for Demyelinating motor neuropathy">Demyelinating motor neuropathy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_10988"><div><strong>Pseudo-Hurler polydystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10988</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.">C0033788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10988">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_148283"><div><strong>Scapuloperoneal spinal muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148283</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.">C0751335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148283">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162893"><div><strong>Agenesis of the corpus callosum with peripheral neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162893</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.">C0795950</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341004"><div><strong>Cervical hypertrichosis-peripheral neuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341004</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.">C1855902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341004">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388073"><div><strong>Hereditary spastic paraplegia 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388073</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.">C1858479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism with characteristic brain MRI features that include thinning of the corpus callosum. Onset occurs mainly during infancy or adolescence (range: age 1-31 years) and in rare cases as late as age 60 years. Most affected individuals become wheelchair bound one or two decades after disease onset.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388073">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346973"><div><strong>Congenital cataracts-facial dysmorphism-neuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346973</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.">C1858726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), mildly dysmorphic facial features apparent in late childhood, and a hypo-/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade of life. Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Romani population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346973">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463103"><div><strong>Severe X-linked mitochondrial encephalomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463103</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.">C3151753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-6 (COXPD6) is an X-linked recessive severe encephalomyopathic disorder with onset in utero or in infancy. Affected patients have hypotonia and severely impaired psychomotor development associated with variably decreased enzymatic activity of mitochondrial respiratory complexes in skeletal muscle or fibroblasts. More variable features may include sensorimotor neuropathy, seizures, severe muscle weakness, abnormal signals in the basal ganglia, hypertrophic cardiomyopathy, deafness, swallowing difficulties, and respiratory insufficiency. Death in childhood may occur (summary by Berger et al., 2011). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816624"><div><strong>Hereditary spastic paraplegia 61</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816624</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.">C3810294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spastic paraplegia-61 (SPG61) is a complicated, early-onset spastic paraplegia (summary by Chukhrova et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816624">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800401"><div><strong>Hereditary spastic paraplegia 9A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800401</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.">C5568978</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1800401">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1810140"><div><strong>Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810140</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.">C5676986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (NEDMHS) is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia with poor or absent motor skills, feeding difficulties with poor overall growth, microcephaly, mild dysmorphic features, and early-onset seizures. Additional variable features, such as nystagmus, cortical blindness, and spasticity, may also occur. Patients with this disorder tend to have recurrent respiratory infections, likely due to aspiration, that may lead to death in childhood (Arnadottir et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810140">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Agenesis of the corpus callosum with peripheral neuropathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341004" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cervical hypertrichosis-peripheral neuropathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital cataracts-facial dysmorphism-neuropathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 61</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800401" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 9A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810140" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudo-Hurler polydystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_148283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapuloperoneal spinal muscular atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe X-linked mitochondrial encephalomyopathy</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/32404895">Long-term treatment with subcutaneous immunoglobulin in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a follow-up period up to 7 years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gentile L,
|
||
Mazzeo A,
|
||
Russo M,
|
||
Arimatea I,
|
||
Vita G,
|
||
Toscano A</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 May 13;10(1):7910.
|
||
doi: 10.1038/s41598-020-64699-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32404895" target="_blank">32404895</a><a href="/pmc/articles/PMC7220943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29343286">Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sekijima Y,
|
||
Ueda M,
|
||
Koike H,
|
||
Misawa S,
|
||
Ishii T,
|
||
Ando Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 Jan 17;13(1):6.
|
||
doi: 10.1186/s13023-017-0726-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29343286" target="_blank">29343286</a><a href="/pmc/articles/PMC5773042" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19647930">Clinical characterization and successful treatment of 6 patients with Churg-Strauss syndrome-associated neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura M,
|
||
Yabe I,
|
||
Yaguchi H,
|
||
Kishimoto R,
|
||
Mito Y,
|
||
Fujiki N,
|
||
Houzen H,
|
||
Tsuji-Akimoto S,
|
||
Niino M,
|
||
Sasaki H</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2009 Oct;111(8):683-7.
|
||
Epub 2009 Aug 3
|
||
doi: 10.1016/j.clineuro.2009.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19647930" target="_blank">19647930</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22motor%20polyneuropathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35047758">BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarpini G,
|
||
Valentino ML,
|
||
Giannotta M,
|
||
Ragni L,
|
||
Torella A,
|
||
Columbaro M,
|
||
Nigro V,
|
||
Pini A</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2021 Dec;40(4):177-183.
|
||
Epub 2021 Dec 31
|
||
doi: 10.36185/2532-1900-061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35047758" target="_blank">35047758</a><a href="/pmc/articles/PMC8744013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21729976">Neurotoxicity of cobalt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Catalani S,
|
||
Rizzetti MC,
|
||
Padovani A,
|
||
Apostoli P</span><br />
|
||
<span class="medgenPMjournal">Hum Exp Toxicol</span>
|
||
2012 May;31(5):421-37.
|
||
Epub 2011 Jul 5
|
||
doi: 10.1177/0960327111414280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21729976" target="_blank">21729976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21510232">Prevalence of peripheral neuropathy in patients with HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saeidi M,
|
||
Sasannejad P,
|
||
Foroughipour M,
|
||
Shahami S,
|
||
Shoeibi A</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2011 Mar;111(1):41-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21510232" target="_blank">21510232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15136691">Neurologic manifestations of Kanzaki disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Umehara F,
|
||
Matsumuro K,
|
||
Kurono Y,
|
||
Arimura K,
|
||
Osame M,
|
||
Kanzaki T</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2004 May 11;62(9):1604-6.
|
||
doi: 10.1212/01.wnl.0000123116.96441.34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15136691" target="_blank">15136691</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7671454">Peripheral nerve vasculitis: a clinico-pathological study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolai A,
|
||
Bonetti B,
|
||
Lazzarino LG,
|
||
Ferrari S,
|
||
Monaco S,
|
||
Rizzuto N</span><br />
|
||
<span class="medgenPMjournal">Clin Neuropathol</span>
|
||
1995 May-Jun;14(3):137-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7671454" target="_blank">7671454</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20polyneuropathy%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 (51)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33858614">Chronic Immune-Mediated Polyneuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox SZ,
|
||
Gwathmey KG</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2021 May;37(2):327-345.
|
||
Epub 2021 Mar 23
|
||
doi: 10.1016/j.cger.2021.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33858614" target="_blank">33858614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33515728">Sjögren's Syndrome: an undiagnosed etiology for facial pain Case series with review of neurological manifestation of Sjögren syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borensztejn I,
|
||
Ansari H,
|
||
Siami-Namini K,
|
||
Newman KA</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2021 Mar;20(3):102762.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1016/j.autrev.2021.102762.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33515728" target="_blank">33515728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30982200">Another brick in the wall: is hexane neuropathy a 'nodo-paranodopathy'?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alpaydin Baslo S,
|
||
Ozturk O,
|
||
Dayan C,
|
||
Atakli D,
|
||
Baslo MB</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2021 Apr;121(2):373-378.
|
||
Epub 2019 Apr 13
|
||
doi: 10.1007/s13760-019-01137-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30982200" target="_blank">30982200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7499753">Neuromuscular complications of sepsis in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheth RD,
|
||
Bolton CF</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1995 Sep;10(5):346-52.
|
||
doi: 10.1177/088307389501000502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7499753" target="_blank">7499753</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5807453">Relapsing motor polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashworth B,
|
||
Smyth GE</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
1969;45(3):342-50.
|
||
doi: 10.1111/j.1600-0404.1969.tb01246.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5807453" target="_blank">5807453</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20polyneuropathy%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 (127)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33858614">Chronic Immune-Mediated Polyneuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox SZ,
|
||
Gwathmey KG</span><br />
|
||
<span class="medgenPMjournal">Clin Geriatr Med</span>
|
||
2021 May;37(2):327-345.
|
||
Epub 2021 Mar 23
|
||
doi: 10.1016/j.cger.2021.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33858614" target="_blank">33858614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30982200">Another brick in the wall: is hexane neuropathy a 'nodo-paranodopathy'?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alpaydin Baslo S,
|
||
Ozturk O,
|
||
Dayan C,
|
||
Atakli D,
|
||
Baslo MB</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2021 Apr;121(2):373-378.
|
||
Epub 2019 Apr 13
|
||
doi: 10.1007/s13760-019-01137-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30982200" target="_blank">30982200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21729976">Neurotoxicity of cobalt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Catalani S,
|
||
Rizzetti MC,
|
||
Padovani A,
|
||
Apostoli P</span><br />
|
||
<span class="medgenPMjournal">Hum Exp Toxicol</span>
|
||
2012 May;31(5):421-37.
|
||
Epub 2011 Jul 5
|
||
doi: 10.1177/0960327111414280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21729976" target="_blank">21729976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1309191">Bovine gangliosides and acute motor polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Figueras A,
|
||
Morales-Olivas FJ,
|
||
Capellà D,
|
||
Palop V,
|
||
Laporte JR</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
1992 Nov 28;305(6865):1330-1.
|
||
doi: 10.1136/bmj.305.6865.1330.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1309191" target="_blank">1309191</a><a href="/pmc/articles/PMC1883909" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5807453">Relapsing motor polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashworth B,
|
||
Smyth GE</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
1969;45(3):342-50.
|
||
doi: 10.1111/j.1600-0404.1969.tb01246.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5807453" target="_blank">5807453</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20polyneuropathy%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 (70)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35047758">BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarpini G,
|
||
Valentino ML,
|
||
Giannotta M,
|
||
Ragni L,
|
||
Torella A,
|
||
Columbaro M,
|
||
Nigro V,
|
||
Pini A</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2021 Dec;40(4):177-183.
|
||
Epub 2021 Dec 31
|
||
doi: 10.36185/2532-1900-061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35047758" target="_blank">35047758</a><a href="/pmc/articles/PMC8744013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791546">Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gitiaux C,
|
||
Bergounioux J,
|
||
Magen M,
|
||
Quijano-Roy S,
|
||
Blanc T,
|
||
Bonnefont JP,
|
||
Desguerre I</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2013 Jun;28(6):787-90.
|
||
Epub 2012 Jul 12
|
||
doi: 10.1177/0883073812450209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791546" target="_blank">22791546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22620963">TTR-familial amyloid polyneuropathy--neurological aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Said G,
|
||
Planté-Bordeneuve V</span><br />
|
||
<span class="medgenPMjournal">Amyloid</span>
|
||
2012 Jun;19 Suppl 1:25-7.
|
||
doi: 10.3109/13506129.2012.673182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22620963" target="_blank">22620963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18523887">Whipple's disease-generalized stage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jackuliak P,
|
||
Koller T,
|
||
Baqi L,
|
||
Plank L,
|
||
Lasabova Z,
|
||
Minarik G,
|
||
Payer J</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
2008 Dec;53(12):3250-8.
|
||
Epub 2008 Jun 4
|
||
doi: 10.1007/s10620-008-0288-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18523887" target="_blank">18523887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15136691">Neurologic manifestations of Kanzaki disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Umehara F,
|
||
Matsumuro K,
|
||
Kurono Y,
|
||
Arimura K,
|
||
Osame M,
|
||
Kanzaki T</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2004 May 11;62(9):1604-6.
|
||
doi: 10.1212/01.wnl.0000123116.96441.34.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15136691" target="_blank">15136691</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20polyneuropathy%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 (39)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38062607">Outcome of Neuromuscular Electrodiagnostic Testing in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akhlaque U,
|
||
Khalil MT,
|
||
Ahmad N,
|
||
Aftab A</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2023 Dec;33(12):1457-1459.
|
||
doi: 10.29271/jcpsp.2023.12.1457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38062607" target="_blank">38062607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35047758">BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarpini G,
|
||
Valentino ML,
|
||
Giannotta M,
|
||
Ragni L,
|
||
Torella A,
|
||
Columbaro M,
|
||
Nigro V,
|
||
Pini A</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2021 Dec;40(4):177-183.
|
||
Epub 2021 Dec 31
|
||
doi: 10.36185/2532-1900-061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35047758" target="_blank">35047758</a><a href="/pmc/articles/PMC8744013" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25198705">HCV-related central and peripheral nervous system demyelinating disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mariotto S,
|
||
Ferrari S,
|
||
Monaco S</span><br />
|
||
<span class="medgenPMjournal">Inflamm Allergy Drug Targets</span>
|
||
2014;13(5):299-304.
|
||
doi: 10.2174/1871528113666140908113841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25198705" target="_blank">25198705</a><a href="/pmc/articles/PMC4428084" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19070487">Sensory-motor polyradiculoneuropathy as the first manifestation of sternum bone plasmacytoma only revealed by bone scintigraphy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velasco R,
|
||
Bau L,
|
||
Povedano M,
|
||
Petit J,
|
||
Lucas A,
|
||
Bruna J</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2009 Jan;19(1):59-61.
|
||
Epub 2008 Dec 12
|
||
doi: 10.1016/j.nmd.2008.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19070487" target="_blank">19070487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18855118">Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harty S,
|
||
King MD,
|
||
McCoy B,
|
||
Costigan D,
|
||
Treacy EP</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2008 Dec;31 Suppl 2:S209-11.
|
||
Epub 2008 Oct 16
|
||
doi: 10.1007/s10545-008-0751-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18855118" target="_blank">18855118</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20polyneuropathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (40)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34161469">Pure neural leprosy or amyloid neuropathy? Systematic review and clinical case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos LOD,
|
||
Fernandes TRMO,
|
||
Barbosa TRS,
|
||
Batista JADS,
|
||
Souza CDF</span><br />
|
||
<span class="medgenPMjournal">Rev Assoc Med Bras (1992)</span>
|
||
2021 Jan;67(1):140-149.
|
||
doi: 10.1590/1806-9282.67.01.20200422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34161469" target="_blank">34161469</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20polyneuropathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22motor%20polyneuropathy%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(%22Motor%20polyneuropathy%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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