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<!--
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UID=335873
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ConceptID=C1843077
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Segmental peripheral demyelination/remyelination</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335873</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.">C1843077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Segmental demyelination/remyelination</td></tr>
|
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<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:0003481">HP:0003481</a></td></tr>
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<div class="portlet_content ln">A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. [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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Segmental peripheral demyelination/remyelination</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/347527" ref="tree=MeSH" title="MedGen record for Abnormal myelination">Abnormal myelination</a></span><ul><li><span class="TLline"><a href="/medgen/871174" ref="tree=MeSH" title="MedGen record for Abnormal peripheral myelination">Abnormal peripheral myelination</a></span><ul><li><span class="TLline"><a href="/medgen/451074" ref="tree=MeSH" title="MedGen record for Peripheral demyelination">Peripheral demyelination</a></span><ul><li><span class="matched_ds">Segmental peripheral demyelination/remyelination</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_3710"><div><strong>Dejerine-Sottas disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3710</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.">C0011195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3710">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_64430"><div><strong>Roussy-Lévy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64430</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.">C0205713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/64430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75727"><div><strong>Charcot-Marie-Tooth disease, type IA</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75727</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.">C0270911</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200). CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (Lupski et al., 1991, 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75727">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_98291"><div><strong>Hereditary liability to pressure palsies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98291</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.">C0393814</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or multiple nerves. The most common initial manifestation is the acute onset of a non-painful focal sensory and motor neuropathy in a single nerve (mononeuropathy). The first attack usually occurs in the second or third decade but earlier onset is possible. Neuropathic pain is increasingly recognized as a common manifestation. Recovery from acute neuropathy is usually complete; when recovery is not complete, the resulting disability is mild. Some affected individuals also demonstrate a mild-to-moderate peripheral neuropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98291">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371304"><div><strong>Charcot-Marie-Tooth disease type 4D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371304</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.">C1832334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life (summary by Okamoto et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Charcot-Marie-Tooth disease, see CMT4A (214400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371304">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374254"><div><strong>Charcot-Marie-Tooth disease X-linked recessive 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374254</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.">C1839566</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phosphoribosylpyrophosphate synthetase (PRS) deficiency, an X-linked disorder, is a phenotypic continuum comprising three disorders previously thought to be clinically distinct: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked nonsyndromic sensorineural hearing loss (DFNX1). In affected males, the PRS deficiency phenotypic spectrum ranges from severe congenital profound sensorineural hearing loss, intellectual disability, delayed motor development, and progressive ophthalmologic involvement (retinal dystrophy and optic atrophy) to normal cognitive abilities and relatively later-onset, somewhat milder manifestations, such as mild sensorineural hearing loss, peripheral neuropathy, and gait ataxia. Heterozygous females can show isolated and/or milder manifestations in the PRS deficiency spectrum. To date, 40 families with PRS deficiency have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374254">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334318"><div><strong>Charcot-Marie-Tooth disease dominant intermediate D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334318</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.">C1843075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334318">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334337"><div><strong>Charcot-Marie-Tooth disease type 1F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334337</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.">C1843164</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338346"><div><strong>Charcot-Marie-Tooth disease dominant intermediate B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338346</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.">C1847902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Classification CMT neuropathy is subdivided into CMT1 (see 118200) and CMT2 (see 118210) types on the basis of electrophysiologic and neuropathologic criteria. CMT1, or hereditary motor and sensory neuropathy type I (HMSN I), is a demyelinating neuropathy, whereas CMT2, or HMSN II, is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. Families of this type were reported by Salisachs (1974) and Davis et al. (1978). Davis et al. (1978) proposed that this form be designated 'intermediate' CMT. Claeys et al. (2009) stated that some CMT families may have an even broader range of NCV than 25 to 45 m/s, with the lowest levels around 25 and the highest levels within the normal range (50+ m/s). They also suggested that the term 'intermediate' should not be used to describe a single NCV value, but rather the CMT subtype at the level of the family (e.g., in families with a range or combinations of NCV values). Berciano et al. (2017) provided a detailed review of the different forms of intermediate CMT, noting that diagnoses may be controversial because of variable classification issues. The authors presented an algorithm for the interpretation of electrophysiologic studies in CMT, and suggested that nerve conduction studies should be conducted on the upper arm (axilla to elbow). They noted that distal axonal degeneration can result in secondary myelination defects, which may cause significantly decreased motor NCV and CMAP values that may be misinterpreted. Genetic Heterogeneity of Autosomal Dominant Intermediate CMT In addition to CMTDIB, which is caused by mutation in the DNM2 gene, other forms of dominant intermediate CMT include CMTDIA (620378), mapped to chromosome 10q24-q25; CMTDIC (608323), caused by mutation in the YARS gene (603623) on chromosome 1p35; CMTDID (607791), caused by mutation in the MPZ gene (159440) on chromosome 1q22; CMTDIE with focal segmental glomerulosclerosis (CMTDIE; 614455), caused by mutation in the INF2 gene (610982) on chromosome 14q32; CMTDIF (615185), caused by mutation in the GNB4 gene (610863) on chromosome 3q26; and CMTDIG (617882), caused by mutation in the NEFL gene (162280) on chromosome 8p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338346">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346869"><div><strong>Charcot-Marie-Tooth disease type 4B2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346869</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.">C1858278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. CMT4B1 (601382) is a clinically similar disorder caused by mutation in the MTMR2 gene (603557) on 11q22. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating CMT, see CMT4A (214400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346869">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794143"><div><strong>Charcot-Marie-Tooth Disease, axonal, type 2GG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794143</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.">C5561933</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Charcot-Marie-Tooth disease type 2GG (CMT2GG) is an autosomal dominant axonal peripheral neuropathy characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. The onset is usually in adulthood, although rare patients may have mild symptoms from childhood. Some individuals may also have involvement of the hands. Although most patients have hypo- or areflexia at the ankles, distal sensory impairment is not always present, indicating a spectrum of disease encompassing both distal hereditary neuropathy and axonal CMT. Electrophysiologic studies are consistent with a axonal process (summary by Mendoza-Ferreira et al., 2020). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794143">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease dominant intermediate B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease dominant intermediate D</a></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334337" 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 1F</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346869" 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 4B2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371304" 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 4D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374254" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease X-linked recessive 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794143" 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 2GG</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75727" 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 IA</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3710" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dejerine-Sottas disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary liability to pressure palsies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_64430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Roussy-Lévy syndrome</a></div></span></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/29907605">Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lozeron P,
|
||
Mariani LL,
|
||
Dodet P,
|
||
Beaudonnet G,
|
||
Théaudin M,
|
||
Adam C,
|
||
Arnulf B,
|
||
Adams D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Jul 10;91(2):e143-e152.
|
||
Epub 2018 Jun 15
|
||
doi: 10.1212/WNL.0000000000005777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29907605" target="_blank">29907605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1663307">Sensorimotor neuropathy in hemophagocytosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Honig LS,
|
||
Snipes GJ,
|
||
Vogel H,
|
||
Horoupian DS</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
1991 Oct;84(4):316-20.
|
||
doi: 10.1111/j.1600-0404.1991.tb04961.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1663307" target="_blank">1663307</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Segmental%20peripheral%20demyelination%2Fremyelination%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 (2)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29907605">Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lozeron P,
|
||
Mariani LL,
|
||
Dodet P,
|
||
Beaudonnet G,
|
||
Théaudin M,
|
||
Adam C,
|
||
Arnulf B,
|
||
Adams D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Jul 10;91(2):e143-e152.
|
||
Epub 2018 Jun 15
|
||
doi: 10.1212/WNL.0000000000005777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29907605" target="_blank">29907605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1663307">Sensorimotor neuropathy in hemophagocytosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Honig LS,
|
||
Snipes GJ,
|
||
Vogel H,
|
||
Horoupian DS</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
1991 Oct;84(4):316-20.
|
||
doi: 10.1111/j.1600-0404.1991.tb04961.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1663307" target="_blank">1663307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6101304">Juvenile metachromatic leukodystrophy. Clinical, biochemical, and neuropathologic studies in nine new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haltia T,
|
||
Palo J,
|
||
Haltia M,
|
||
Icén A</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1980 Jan;37(1):42-6.
|
||
doi: 10.1001/archneur.1980.00500500072011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6101304" target="_blank">6101304</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Segmental%20peripheral%20demyelination%2Fremyelination%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29907605">Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lozeron P,
|
||
Mariani LL,
|
||
Dodet P,
|
||
Beaudonnet G,
|
||
Théaudin M,
|
||
Adam C,
|
||
Arnulf B,
|
||
Adams D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Jul 10;91(2):e143-e152.
|
||
Epub 2018 Jun 15
|
||
doi: 10.1212/WNL.0000000000005777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29907605" target="_blank">29907605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1663307">Sensorimotor neuropathy in hemophagocytosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Honig LS,
|
||
Snipes GJ,
|
||
Vogel H,
|
||
Horoupian DS</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
1991 Oct;84(4):316-20.
|
||
doi: 10.1111/j.1600-0404.1991.tb04961.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1663307" target="_blank">1663307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6101304">Juvenile metachromatic leukodystrophy. Clinical, biochemical, and neuropathologic studies in nine new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haltia T,
|
||
Palo J,
|
||
Haltia M,
|
||
Icén A</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1980 Jan;37(1):42-6.
|
||
doi: 10.1001/archneur.1980.00500500072011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6101304" target="_blank">6101304</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/187157">Axonal degeneration in beriberi neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takahashi K,
|
||
Nakamura H</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1976 Dec;33(12):836-41.
|
||
doi: 10.1001/archneur.1976.00500120040006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/187157" target="_blank">187157</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Segmental%20peripheral%20demyelination%2Fremyelination%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29907605">Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lozeron P,
|
||
Mariani LL,
|
||
Dodet P,
|
||
Beaudonnet G,
|
||
Théaudin M,
|
||
Adam C,
|
||
Arnulf B,
|
||
Adams D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2018 Jul 10;91(2):e143-e152.
|
||
Epub 2018 Jun 15
|
||
doi: 10.1212/WNL.0000000000005777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29907605" target="_blank">29907605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3014798">Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi A,
|
||
Ciacci G,
|
||
Federico A,
|
||
Mondelli M,
|
||
Rizzuto N</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
1986 Apr;73(4):363-71.
|
||
doi: 10.1111/j.1600-0404.1986.tb03291.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3014798" target="_blank">3014798</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/214018">Giant axonal neuropathy: a childhood disorder of microfilaments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koch T,
|
||
Schultz P,
|
||
Williams R,
|
||
Lampert P</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1977 May;1(5):438-51.
|
||
doi: 10.1002/ana.410010507.
|
||
<span class="bold">PMID: </span><a href="/pubmed/214018" target="_blank">214018</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Segmental%20peripheral%20demyelination%2Fremyelination%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
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