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<!--
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UID=395303
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ConceptID=C1859606
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Decreased number of large peripheral myelinated nerve fibers</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395303</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.">C1859606</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Depletion of large myelinated fibers; Loss of large myelinated fibers; Loss of larger myelinated nerve fibers</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003387">HP:0003387</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">A reduced number of large myelinated nerve fibers. [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>
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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">Decreased number of large peripheral myelinated nerve fibers</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/346872" ref="tree=MeSH" title="MedGen record for Decreased number of peripheral myelinated nerve fibers">Decreased number of peripheral myelinated nerve fibers</a></span><ul><li><span class="matched_ds">Decreased number of large peripheral myelinated nerve fibers</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_41678"><div><strong>Familial dysautonomia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41678</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.">C0013364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324826"><div><strong>Charcot-Marie-Tooth disease axonal type 2L</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324826</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.">C1837552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Axonal Charcot-Marie-Tooth disease type 2L (CMT2L) is an autosomal dominant neuromuscular disorder characterized by muscle weakness and atrophy and sensory impairment of the distal lower and upper limbs resulting from a length-dependent axonal peripheral neuropathy. The lower limbs are predominantly affected, resulting in slowly progressive walking difficulties. Some individuals have involvement of the proximal lower limbs. Electrophysiologic studies are consistent with a axonal neuropathy, and muscle imaging shows muscle atrophy and fatty replacement in the lower limbs. Sural nerve biopsy shows loss of large myelinated fibers and abnormal axonal morphology (Tang et al., 2004; Nakhro et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324826">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334012"><div><strong>Charcot-Marie-Tooth disease recessive intermediate A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334012</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.">C1842197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Proximal muscles can also become weak. Age at onset ranges from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334012">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338613"><div><strong>Infantile onset spinocerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338613</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.">C1849096</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-7 is an autosomal recessive severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Although originally classified as a form of spinocerebellar ataxia (see, e.g., SCA1, 164400) (Koskinen et al., 1994), it has been reclassified as a mitochondrial DNA depletion syndrome (Hakonen et al., 2008) based on the finding of mtDNA depletion in the brain and liver of affected individuals. For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338613">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338620"><div><strong>Charlevoix-Saguenay spastic ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338620</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1849140</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is clinically characterized by a progressive cerebellar ataxia, peripheral neuropathy, and spasticity. Disease onset of classic ARSACS is often in early childhood, leading to delayed walking because of gait unsteadiness in very young toddlers, while an increasing number of individuals with disease onset in teenage or early-adult years are now being described. Typically the ataxia is followed by lower-limb spasticity and later by peripheral neuropathy – although pronounced peripheral neuropathy has been observed as a first sign of ARSACS. Oculomotor disturbances, dysarthria, and upper-limb ataxia develop with slower progression than the other findings. Brain imaging demonstrates atrophy of the superior vermis and the cerebellar hemisphere with additional findings on MRI, such as linear hypointensities in the pons and hyperintense rims around the thalami. Many affected individuals (though not all) have yellow streaks of hypermyelinated fibers radiating from the edges of the optic disc noted on ophthalmologic exam, and thickened retinal fibers can be demonstrated by optical coherence tomography. Mild intellectual disability, hearing loss, and urinary urgency and incontinence have been reported in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338620">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343122"><div><strong>Charcot-Marie-Tooth disease type 4G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343122</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.">C1854449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Russe type of hereditary motor and sensory neuropathy (HMSNR) is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy (summary by Sevilla et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease, see CMT4A (214400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343122">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395301"><div><strong>Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395301</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.">C1859598</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). Genetic Heterogeneity of Ataxia-Oculomotor Apraxia See also AOA2 (606002), caused by mutation in the SETX gene (608465) on chromosome 9q34; AOA3 (615217), caused by mutation in the PIK3R5 gene (611317) on chromosome 17p; and AOA4 (616267), caused by mutation in the PNKP gene (605610) on chromosome 19q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395301">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_356581"><div><strong>Charcot-Marie-Tooth disease type 4C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356581</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.">C1866636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis or kyphoscoliosis) and foot deformities (pes cavus, pes planus, or pes valgus) that typically present in the first decade of life or early adolescence. Other findings can include cranial nerve involvement (most commonly tongue involvement, facial weakness/paralysis, hearing impairment, dysarthria) and respiratory problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356581">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761704"><div><strong>Charcot-Marie-Tooth disease type 4F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761704</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.">C3540453</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 4F (CMT4F) is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS; 145900). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761704">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815639"><div><strong>Charcot-Marie-Tooth disease recessive intermediate C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815639</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.">C3809309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CMTRIC is an autosomal recessive peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. The age at onset and the severity of the disease are variable (summary by Azzedine et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive intermediate CMT, see CMTRIA (608340).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815639">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934692"><div><strong>Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934692</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.">C4310725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934692">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1716450"><div><strong>Neuropathy, hereditary sensory and autonomic, type 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716450</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.">C5235211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SPTLC1-related hereditary sensory neuropathy (HSN) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles, possibly leading to wheelchair dependency by the seventh or eighth decade. Sensorineural hearing loss is variable.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1716450">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395301" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324826" 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 2L</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease recessive intermediate A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease recessive intermediate C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356581" 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 4C</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_761704" 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 4F</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343122" 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 4G</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934692" 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, autosomal recessive, type 2a2b;</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charlevoix-Saguenay spastic ataxia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial dysautonomia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile onset spinocerebellar ataxia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1716450" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory and autonomic, type 1A</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/18648720">Microanatomical structure of the human sciatic nerve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sladjana UZ,
|
||
Ivan JD,
|
||
Bratislav SD</span><br />
|
||
<span class="medgenPMjournal">Surg Radiol Anat</span>
|
||
2008 Nov;30(8):619-26.
|
||
Epub 2008 Jul 23
|
||
doi: 10.1007/s00276-008-0386-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18648720" target="_blank">18648720</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9056539">No evidence for axonal atrophy in human diabetic polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engelstad JK,
|
||
Davies JL,
|
||
Giannini C,
|
||
O'Brien PC,
|
||
Dyck PJ</span><br />
|
||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
|
||
1997 Mar;56(3):255-62.
|
||
doi: 10.1097/00005072-199703000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9056539" target="_blank">9056539</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4075078">Qualitative and quantitative morphology of human sural nerve at different ages.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobs JM,
|
||
Love S</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
1985 Dec;108 ( Pt 4):897-924.
|
||
doi: 10.1093/brain/108.4.897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4075078" target="_blank">4075078</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4058468">Morphometric analysis of intramuscular nerves.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Madriaga EP,
|
||
Osame M,
|
||
Fukuoka T,
|
||
Sato E,
|
||
Gamez GL,
|
||
Igata A</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1985 Mar-Apr;8(3):241-4.
|
||
doi: 10.1002/mus.880080310.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4058468" target="_blank">4058468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/936978">Late changes in human sural nerves in Minamata disease and in nerves of rats with experimental organic mercury poisoning.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyakawa T,
|
||
Murayama E,
|
||
Sumiyoshi S,
|
||
Deshimaru M,
|
||
Fujimoto T</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
1976 Jun 15;35(2):131-8.
|
||
doi: 10.1007/BF00690559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/936978" target="_blank">936978</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20number%20of%20large%20peripheral%20myelinated%20nerve%20fibers%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31336801">Arsenic Neurotoxicity in Humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mochizuki H</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2019 Jul 11;20(14)
|
||
doi: 10.3390/ijms20143418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31336801" target="_blank">31336801</a><a href="/pmc/articles/PMC6678206" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18648720">Microanatomical structure of the human sciatic nerve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sladjana UZ,
|
||
Ivan JD,
|
||
Bratislav SD</span><br />
|
||
<span class="medgenPMjournal">Surg Radiol Anat</span>
|
||
2008 Nov;30(8):619-26.
|
||
Epub 2008 Jul 23
|
||
doi: 10.1007/s00276-008-0386-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18648720" target="_blank">18648720</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10430839">Distal axonopathy in peripheral nerves of PMP22-mutant mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sancho S,
|
||
Magyar JP,
|
||
Aguzzi A,
|
||
Suter1 U</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
1999 Aug;122 ( Pt 8):1563-77.
|
||
doi: 10.1093/brain/122.8.1563.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10430839" target="_blank">10430839</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20number%20of%20large%20peripheral%20myelinated%20nerve%20fibers%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">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38146590">Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farah MH,
|
||
Dali CÍ,
|
||
Groeschel S,
|
||
Moldovan M,
|
||
Whiteman DAH,
|
||
Malanga CJ,
|
||
Krägeloh-Mann I,
|
||
Li J,
|
||
Barton N,
|
||
Krarup C</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2024 Feb;11(2):328-341.
|
||
Epub 2023 Dec 26
|
||
doi: 10.1002/acn3.51954.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38146590" target="_blank">38146590</a><a href="/pmc/articles/PMC10863914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21040144">Inflammatory pseudotumor of nerve: clinicopathological characteristics and a potential therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mauermann ML,
|
||
Scheithauer BW,
|
||
Spinner RJ,
|
||
Amrami KK,
|
||
Nance CS,
|
||
Kline DG,
|
||
O'Connor MI,
|
||
Dyck PJ,
|
||
Engelstad J,
|
||
Dyck PJ</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2010 Sep;15(3):216-26.
|
||
doi: 10.1111/j.1529-8027.2010.00273.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21040144" target="_blank">21040144</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20number%20of%20large%20peripheral%20myelinated%20nerve%20fibers%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31336801">Arsenic Neurotoxicity in Humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mochizuki H</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2019 Jul 11;20(14)
|
||
doi: 10.3390/ijms20143418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31336801" target="_blank">31336801</a><a href="/pmc/articles/PMC6678206" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21040144">Inflammatory pseudotumor of nerve: clinicopathological characteristics and a potential therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mauermann ML,
|
||
Scheithauer BW,
|
||
Spinner RJ,
|
||
Amrami KK,
|
||
Nance CS,
|
||
Kline DG,
|
||
O'Connor MI,
|
||
Dyck PJ,
|
||
Engelstad J,
|
||
Dyck PJ</span><br />
|
||
<span class="medgenPMjournal">J Peripher Nerv Syst</span>
|
||
2010 Sep;15(3):216-26.
|
||
doi: 10.1111/j.1529-8027.2010.00273.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21040144" target="_blank">21040144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18648720">Microanatomical structure of the human sciatic nerve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sladjana UZ,
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||
Ivan JD,
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Bratislav SD</span><br />
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<span class="medgenPMjournal">Surg Radiol Anat</span>
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|
||
<span class="bold">PMID: </span><a href="/pubmed/18648720" target="_blank">18648720</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/936978">Late changes in human sural nerves in Minamata disease and in nerves of rats with experimental organic mercury poisoning.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyakawa T,
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Murayama E,
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Sumiyoshi S,
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Deshimaru M,
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|
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<span class="bold">PMID: </span><a href="/pubmed/936978" target="_blank">936978</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20number%20of%20large%20peripheral%20myelinated%20nerve%20fibers%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/38146590">Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Farah MH,
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Dali CÍ,
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Groeschel S,
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Moldovan M,
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Whiteman DAH,
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Malanga CJ,
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Krägeloh-Mann I,
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Li J,
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Barton N,
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Krarup C</span><br />
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<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
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2024 Feb;11(2):328-341.
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||
Epub 2023 Dec 26
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||
doi: 10.1002/acn3.51954.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38146590" target="_blank">38146590</a><a href="/pmc/articles/PMC10863914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31336801">Arsenic Neurotoxicity in Humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mochizuki H</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
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||
2019 Jul 11;20(14)
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||
doi: 10.3390/ijms20143418.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31336801" target="_blank">31336801</a><a href="/pmc/articles/PMC6678206" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/21760538">Peripheral neuropathy is linked to a severe form of myotonic dystrophy in transgenic mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panaite PA,
|
||
Kielar M,
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||
Kraftsik R,
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Gourdon G,
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Kuntzer T,
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<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
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2011 Aug;70(8):678-85.
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doi: 10.1097/NEN.0b013e3182260939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21760538" target="_blank">21760538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9056539">No evidence for axonal atrophy in human diabetic polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engelstad JK,
|
||
Davies JL,
|
||
Giannini C,
|
||
O'Brien PC,
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Dyck PJ</span><br />
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||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
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1997 Mar;56(3):255-62.
|
||
doi: 10.1097/00005072-199703000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9056539" target="_blank">9056539</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6793867">Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pellissier JF,
|
||
Van Hoof F,
|
||
Bourdet-Bonerandi D,
|
||
Monier-Faugere MC,
|
||
Toga M</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1981 Sep-Oct;4(5):381-7.
|
||
doi: 10.1002/mus.880040506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6793867" target="_blank">6793867</a></div>
|
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