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<meta name="keywords" content="C0027888, cmt - charcot-marie-tooth disease, disease or syndrome, herditary sensory and motor neuropathy, hereditary motor and sensory neuropathies, hereditary motor and sensory neuropathy, hereditary sensorimotor neuropathy, hereditary sensory and motor neuropathy, hereditary sensory-motor neuropathy, hmsn, hmsn - hereditary motor and sensory neuropathy, hsmn - hereditary sensory and motor neuropathy, neuropathies, hereditary motor and sensory, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=45066
|
||
ConceptID=C0027888
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary motor and sensory neuropathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45066</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.">C0027888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Herditary Sensory and Motor Neuropathy; Hereditary Motor and Sensory Neuropathies; Hereditary Motor and Sensory Neuropathy; Hereditary Sensory and Motor Neuropathy; HMSN; Neuropathies, Hereditary Motor and Sensory</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary motor and sensory neuropathy (398100001); Hereditary sensory and motor neuropathy (398100001); Hereditary sensory-motor neuropathy (398100001); Hereditary sensorimotor neuropathy (398100001); CMT - Charcot-Marie-Tooth disease (398100001); HMSN - hereditary motor and sensory neuropathy (398100001); HSMN - hereditary sensory and motor neuropathy (398100001)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015358" target="_blank">MONDO:0015358</a></td></tr>
|
||
</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">A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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=C0027888[DISCUI]&test_type=Clinical" ref="ncbi_uid=45066">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=45066" ref="ncbi_uid=45066">V</a></span></span><span class="TLline">Hereditary motor and sensory neuropathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><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="matched_ds">Hereditary motor and sensory neuropathy</span><ul><li><span class="TLline"><a href="/medgen/78675" ref="tree=MeSH" title="MedGen record for Alstrom syndrome">Alstrom syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2980" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease">Charcot-Marie-Tooth disease</a></span><ul><li><span class="TLline"><a href="/medgen/375064" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2K">Charcot-Marie-Tooth disease axonal type 2K</a></span></li><li><span class="TLline"><a href="/medgen/334023" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate C">Charcot-Marie-Tooth disease dominant intermediate C</a></span></li><li><span class="TLline"><a href="/medgen/928336" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate E">Charcot-Marie-Tooth disease dominant intermediate E</a></span></li><li><span class="TLline"><a href="/medgen/1666273" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease dominant intermediate F">Charcot-Marie-Tooth disease dominant intermediate F</a></span></li><li><span class="TLline"><a href="/medgen/124378" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2">Charcot-Marie-Tooth disease type 2</a></span><ul><li><span class="TLline"><a href="/medgen/1798938" ref="tree=MeSH" title="MedGen record for Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation">Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation</a></span></li><li><span class="TLline"><a href="/medgen/1633598" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation">Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation</a></span></li><li><span class="TLline"><a href="/medgen/1800451" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation">Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation</a></span></li><li><span class="TLline"><a href="/medgen/334294" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2K">Autosomal dominant Charcot-Marie-Tooth disease type 2K</a></span></li><li><span class="TLline"><a href="/medgen/930341" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2M">Autosomal dominant Charcot-Marie-Tooth disease type 2M</a></span></li><li><span class="TLline"><a href="/medgen/1798909" ref="tree=MeSH" title="MedGen record for Autosomal dominant Charcot-Marie-Tooth disease type 2W">Autosomal dominant Charcot-Marie-Tooth disease type 2W</a></span></li><li><span class="TLline"><a href="/medgen/342947" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2C">Charcot-Marie-Tooth disease axonal type 2C</a></span></li><li><span class="TLline"><a href="/medgen/335784" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2F">Charcot-Marie-Tooth disease axonal type 2F</a></span></li><li><span class="TLline"><a href="/medgen/334344" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2H">Charcot-Marie-Tooth disease axonal type 2H</a></span></li><li><span class="TLline"><a href="/medgen/324826" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2L">Charcot-Marie-Tooth disease axonal type 2L</a></span></li><li><span class="TLline"><a href="/medgen/413754" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2N">Charcot-Marie-Tooth disease axonal type 2N</a></span></li><li><span class="TLline"><a href="/medgen/481850" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2O">Charcot-Marie-Tooth disease axonal type 2O</a></span></li><li><span class="TLline"><a href="/medgen/482427" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2P">Charcot-Marie-Tooth disease axonal type 2P</a></span></li><li><span class="TLline"><a href="/medgen/767280" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2Q">Charcot-Marie-Tooth disease axonal type 2Q</a></span></li><li><span class="TLline"><a href="/medgen/906504" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2U">Charcot-Marie-Tooth disease axonal type 2U</a></span></li><li><span class="TLline"><a href="/medgen/1800473" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2V">Charcot-Marie-Tooth disease axonal type 2V</a></span></li><li><span class="TLline"><a href="/medgen/1800448" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease axonal type 2Z">Charcot-Marie-Tooth disease axonal type 2Z</a></span></li><li><span class="TLline"><a href="/medgen/350076" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2A1">Charcot-Marie-Tooth disease type 2A1</a></span></li><li><span class="TLline"><a href="/medgen/1648317" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2A2">Charcot-Marie-Tooth disease type 2A2</a></span></li><li><span class="TLline"><a href="/medgen/371512" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2B">Charcot-Marie-Tooth disease type 2B</a></span></li><li><span class="TLline"><a href="/medgen/316946" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2D">Charcot-Marie-Tooth disease type 2D</a></span></li><li><span class="TLline"><a href="/medgen/375127" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2E">Charcot-Marie-Tooth disease type 2E</a></span></li><li><span class="TLline"><a href="/medgen/854756" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2I">Charcot-Marie-Tooth disease type 2I</a></span></li><li><span class="TLline"><a href="/medgen/375107" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2J">Charcot-Marie-Tooth disease type 2J</a></span></li><li><span class="TLline"><a href="/medgen/1800449" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 2Y">Charcot-Marie-Tooth disease type 2Y</a></span></li><li><span class="TLline"><a href="/medgen/1648475" ref="tree=MeSH" title="MedGen record for Charcot-marie-tooth disease, axonal, type 2DD">Charcot-marie-tooth disease, axonal, type 2DD</a></span></li><li><span class="TLline"><a href="/medgen/389169" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type 2A">Charcot-Marie-Tooth disease, type 2A</a></span></li><li><span class="TLline"><a href="/medgen/468444" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth Neuropathy Type 2H/2K">Charcot-Marie-Tooth Neuropathy Type 2H/2K</a></span></li><li><span class="TLline"><a href="/medgen/468432" ref="tree=MeSH" title="MedGen record for GARS-Associated Axonal Neuropathy">GARS-Associated Axonal Neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/400593" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy 2">Giant axonal neuropathy 2</a></span></li><li><span class="TLline"><a href="/medgen/1798873" ref="tree=MeSH" title="MedGen record for MME-related autosomal dominant Charcot Marie Tooth disease type 2">MME-related autosomal dominant Charcot Marie Tooth disease type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/905419" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4">Charcot-Marie-Tooth disease type 4</a></span><ul><li><span class="TLline"><a href="/medgen/347821" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4A">Charcot-Marie-Tooth disease type 4A</a></span></li><li><span class="TLline"><a href="/medgen/321947" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4B1">Charcot-Marie-Tooth disease type 4B1</a></span></li><li><span class="TLline"><a href="/medgen/346869" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4B2">Charcot-Marie-Tooth disease type 4B2</a></span></li><li><span class="TLline"><a href="/medgen/811329" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4B3">Charcot-Marie-Tooth disease type 4B3</a></span></li><li><span class="TLline"><a href="/medgen/356581" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4C">Charcot-Marie-Tooth disease type 4C</a></span></li><li><span class="TLline"><a href="/medgen/371304" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4D">Charcot-Marie-Tooth disease type 4D</a></span></li><li><span class="TLline"><a href="/medgen/1648303" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4E">Charcot-Marie-Tooth disease type 4E</a></span></li><li><span class="TLline"><a href="/medgen/761704" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4F">Charcot-Marie-Tooth disease type 4F</a></span></li><li><span class="TLline"><a href="/medgen/343122" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4G">Charcot-Marie-Tooth disease type 4G</a></span></li><li><span class="TLline"><a href="/medgen/324487" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4H">Charcot-Marie-Tooth disease type 4H</a></span></li><li><span class="TLline"><a href="/medgen/370808" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4J">Charcot-Marie-Tooth disease type 4J</a></span></li><li><span class="TLline"><a href="/medgen/895560" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 4K">Charcot-Marie-Tooth disease type 4K</a></span></li><li><span class="TLline"><a href="/medgen/3710" ref="tree=MeSH" title="MedGen record for Dejerine-Sottas disease">Dejerine-Sottas disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/124377" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1B">Charcot-Marie-Tooth disease type 1B</a></span></li><li><span class="TLline"><a href="/medgen/98290" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked dominant 1">Charcot-Marie-Tooth disease X-linked dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/155486" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type I">Charcot-Marie-Tooth disease, type I</a></span><ul><li><span class="TLline"><a href="/medgen/75728" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1C">Charcot-Marie-Tooth disease type 1C</a></span></li><li><span class="TLline"><a href="/medgen/334709" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1D">Charcot-Marie-Tooth disease type 1D</a></span></li><li><span class="TLline"><a href="/medgen/501212" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1E">Charcot-Marie-Tooth disease type 1E</a></span></li><li><span class="TLline"><a href="/medgen/334337" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease type 1F">Charcot-Marie-Tooth disease type 1F</a></span></li><li><span class="TLline"><a href="/medgen/75727" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease, type IA">Charcot-Marie-Tooth disease, type IA</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/468447" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth Neuropathy X">Charcot-Marie-Tooth Neuropathy X</a></span><ul><li><span class="TLline"><a href="/medgen/336803" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked recessive 2">Charcot-Marie-Tooth disease X-linked recessive 2</a></span></li><li><span class="TLline"><a href="/medgen/375530" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked recessive 3">Charcot-Marie-Tooth disease X-linked recessive 3</a></span></li><li><span class="TLline"><a href="/medgen/162891" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked recessive 4">Charcot-Marie-Tooth disease X-linked recessive 4</a></span></li><li><span class="TLline"><a href="/medgen/374254" ref="tree=MeSH" title="MedGen record for Charcot-Marie-Tooth disease X-linked recessive 5">Charcot-Marie-Tooth disease X-linked recessive 5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/356618" ref="tree=MeSH" title="MedGen record for Neuronopathy, distal hereditary motor, autosomal dominant 1">Neuronopathy, distal hereditary motor, autosomal dominant 1</a></span></li><li><span class="TLline"><a href="/medgen/349240" ref="tree=MeSH" title="MedGen record for Polyneuropathy-hand defect syndrome">Polyneuropathy-hand defect syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1684765" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy">Giant axonal neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/376775" ref="tree=MeSH" title="MedGen record for Giant axonal neuropathy 1">Giant axonal neuropathy 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/20844" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia">Hereditary spastic paraplegia</a></span><ul><li><span class="TLline"><a href="/medgen/934734" ref="tree=MeSH" title="MedGen record for Cerebral palsy, spastic quadriplegic, 3">Cerebral palsy, spastic quadriplegic, 3</a></span></li><li><span class="TLline"><a href="/medgen/339552" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 7">Hereditary spastic paraplegia 7</a></span></li><li><span class="TLline"><a href="/medgen/388073" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 11">Hereditary spastic paraplegia 11</a></span></li><li><span class="TLline"><a href="/medgen/419393" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 3A">Hereditary spastic paraplegia 3A</a></span></li><li><span class="TLline"><a href="/medgen/481368" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 47">Hereditary spastic paraplegia 47</a></span></li><li><span class="TLline"><a href="/medgen/376521" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 5A">Hereditary spastic paraplegia 5A</a></span></li><li><span class="TLline"><a href="/medgen/777979" ref="tree=MeSH" title="MedGen record for Spastic Paraplegia 4">Spastic Paraplegia 4</a></span></li><li><span class="TLline"><a href="/medgen/1678550" ref="tree=MeSH" title="MedGen record for Spastic Paraplegia 76">Spastic Paraplegia 76</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=16966&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hereditary motor and sensory neuropathy</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/26662471">Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gess B,
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Baets J,
|
||
De Jonghe P,
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Reilly MM,
|
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Pareyson D,
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||
Young P</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2015 Dec 11;2015(12):CD011952.
|
||
doi: 10.1002/14651858.CD011952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26662471" target="_blank">26662471</a><a href="/pmc/articles/PMC6823270" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/25108281">Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jerath NU,
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||
Shy ME</span><br />
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<span class="medgenPMjournal">Biochim Biophys Acta</span>
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||
2015 Apr;1852(4):667-78.
|
||
Epub 2014 Aug 6
|
||
doi: 10.1016/j.bbadis.2014.07.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25108281" target="_blank">25108281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8329892">Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Visser M</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
1993 Jan;3(1):77-9.
|
||
doi: 10.1016/0960-8966(93)90045-l.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8329892" target="_blank">8329892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20motor%20and%20sensory%20neuropathy%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 (12)</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/28641335">Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vill K,
|
||
Ille L,
|
||
Blaschek A,
|
||
Rawer R,
|
||
Landgraf MN,
|
||
Gerstl L,
|
||
Schroeder SA,
|
||
Müller-Felber W</span><br />
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||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2017 Dec;48(6):420-425.
|
||
Epub 2017 Jun 22
|
||
doi: 10.1055/s-0037-1603778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28641335" target="_blank">28641335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26010435">Systematic review of exercise for Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sman AD,
|
||
Hackett D,
|
||
Fiatarone Singh M,
|
||
Fornusek C,
|
||
Menezes MP,
|
||
Burns J</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2015 Dec;20(4):347-62.
|
||
doi: 10.1111/jns.12116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26010435" target="_blank">26010435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791502">TRPV4-associated skeletal dysplasias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nishimura G,
|
||
Lausch E,
|
||
Savarirayan R,
|
||
Shiba M,
|
||
Spranger J,
|
||
Zabel B,
|
||
Ikegawa S,
|
||
Superti-Furga A,
|
||
Unger S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2012 Aug 15;160C(3):190-204.
|
||
Epub 2012 Jul 12
|
||
doi: 10.1002/ajmg.c.31335.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791502" target="_blank">22791502</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19825739">Charcot-Marie-tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casasnovas C,
|
||
Cano LM,
|
||
Albertí A,
|
||
Céspedes M,
|
||
Rigo G</span><br />
|
||
<span class="medgenPMjournal">Foot Ankle Spec</span>
|
||
2008 Dec;1(6):350-4.
|
||
Epub 2008 Oct 22
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doi: 10.1177/1938640008326247.
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<span class="bold">PMID: </span><a href="/pubmed/19825739" target="_blank">19825739</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6092990">The steroid treatment of hereditary motor and sensory neuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Prensky AL,
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<div class="portlet_content ln"><span class="medgenPMauthor">Sman AD,
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Hackett D,
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<div class="nl"><a target="_blank" href="/pubmed/6092990">The steroid treatment of hereditary motor and sensory neuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Prensky AL,
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Dodson WE</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20motor%20and%20sensory%20neuropathy%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 (26)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37249082">Toxic medications in Charcot-Marie-Tooth patients: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cavaletti G,
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Forsey K,
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Alberti P</span><br />
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<span class="medgenPMjournal">J Peripher Nerv Syst</span>
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2023 Sep;28(3):295-307.
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Epub 2023 Jun 5
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doi: 10.1111/jns.12566.
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<span class="bold">PMID: </span><a href="/pubmed/37249082" target="_blank">37249082</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36912213">Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cantarero L,
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Palau F</span><br />
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<span class="medgenPMjournal">Biol Open</span>
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2023 Apr 15;12(4)
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<span class="bold">PMID: </span><a href="/pubmed/36912213" target="_blank">36912213</a><a href="/pmc/articles/PMC10110396" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25687202">Characteristic MRI features of chronic inflammatory demyelinating polyradiculoneuropathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Abe Y,
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Terashima H,
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Hoshino H,
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Sassa K,
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Sakai T,
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<div class="nl"><a target="_blank" href="/pubmed/19825739">Charcot-Marie-tooth disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Casasnovas C,
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Cano LM,
|
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Albertí A,
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Céspedes M,
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Rigo G</span><br />
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<span class="medgenPMjournal">Foot Ankle Spec</span>
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2008 Dec;1(6):350-4.
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Epub 2008 Oct 22
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doi: 10.1177/1938640008326247.
|
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<span class="bold">PMID: </span><a href="/pubmed/19825739" target="_blank">19825739</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/3476859">Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rozear MP,
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Pericak-Vance MA,
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Fischbeck K,
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Stajich JM,
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Gaskell PC Jr,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20motor%20and%20sensory%20neuropathy%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 (48)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37249082">Toxic medications in Charcot-Marie-Tooth patients: A systematic review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavaletti G,
|
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Forsey K,
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Alberti P</span><br />
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<span class="medgenPMjournal">J Peripher Nerv Syst</span>
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2023 Sep;28(3):295-307.
|
||
Epub 2023 Jun 5
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doi: 10.1111/jns.12566.
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<span class="bold">PMID: </span><a href="/pubmed/37249082" target="_blank">37249082</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/36098092">Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Babu K,
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Seamon K,
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Jewell A,
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Harrison A,
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Harper A,
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Couser N</span><br />
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Epub 2022 Sep 13
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doi: 10.1080/13816810.2022.2116651.
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<span class="bold">PMID: </span><a href="/pubmed/36098092" target="_blank">36098092</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29491369">Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bernard-Marissal N,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1310584">Hereditary motor and sensory neuropathy with treatable extrapyramidal features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jaradeh S,
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Dyck PJ</span><br />
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<span class="medgenPMjournal">Arch Neurol</span>
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1992 Feb;49(2):175-8.
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||
<span class="bold">PMID: </span><a href="/pubmed/1310584" target="_blank">1310584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2801256">Hereditary motor and sensory neuropathy type I and motor neuron disease. An unusual association.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">La Pia S,
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Valiani R,
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Vitolo S,
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Galdiero S,
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Rossi V,
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Santangelo R,
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Barbieri F</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20motor%20and%20sensory%20neuropathy%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 (122)</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/37249082">Toxic medications in Charcot-Marie-Tooth patients: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavaletti G,
|
||
Forsey K,
|
||
Alberti P</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2023 Sep;28(3):295-307.
|
||
Epub 2023 Jun 5
|
||
doi: 10.1111/jns.12566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37249082" target="_blank">37249082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35899532">Reliability of Muscle Strength and Muscle Power Assessments Using Isokinetic Dynamometry in Neuromuscular Diseases: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Woude DR,
|
||
Ruyten T,
|
||
Bartels B</span><br />
|
||
<span class="medgenPMjournal">Phys Ther</span>
|
||
2022 Oct 6;102(10)
|
||
doi: 10.1093/ptj/pzac099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35899532" target="_blank">35899532</a><a href="/pmc/articles/PMC10071497" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26662471">Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gess B,
|
||
Baets J,
|
||
De Jonghe P,
|
||
Reilly MM,
|
||
Pareyson D,
|
||
Young P</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2015 Dec 11;2015(12):CD011952.
|
||
doi: 10.1002/14651858.CD011952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26662471" target="_blank">26662471</a><a href="/pmc/articles/PMC6823270" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26010435">Systematic review of exercise for Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sman AD,
|
||
Hackett D,
|
||
Fiatarone Singh M,
|
||
Fornusek C,
|
||
Menezes MP,
|
||
Burns J</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2015 Dec;20(4):347-62.
|
||
doi: 10.1111/jns.12116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26010435" target="_blank">26010435</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24654889">Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cordeiro JL,
|
||
Marques W,
|
||
Hallak JE,
|
||
Osório FL</span><br />
|
||
<span class="medgenPMjournal">ASN Neuro</span>
|
||
2014 May 27;6(3):185-92.
|
||
doi: 10.1042/AN20130048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24654889" target="_blank">24654889</a><a href="/pmc/articles/PMC4034707" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20motor%20and%20sensory%20neuropathy%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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|
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<li><a href="/gtr/tests?term=C0027888%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
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