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<meta name="keywords" content="C2749625, axonal motor neuropathy, disease or syndrome, distal motor neuropathy, length dependent motor neuropathy, motor and axonal neuropathy, motor axonal neuropathy, 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="Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Motor axonal neuropathy (Concept Id: C2749625)
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<!--
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UID=413108
|
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ConceptID=C2749625
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Motor axonal neuropathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413108</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:">C2749625</span></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>Axonal motor neuropathy; Motor and axonal neuropathy</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:0007002">HP:0007002</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">Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2749625[DISCUI]&test_type=Clinical" ref="ncbi_uid=413108">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=413108" ref="ncbi_uid=413108">V</a></span></span><span class="TLline">Motor axonal neuropathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/18386" ref="tree=MeSH" title="MedGen record for Peripheral neuropathy">Peripheral neuropathy</a></span><ul><li><span class="TLline"><a href="/medgen/266071" ref="tree=MeSH" title="MedGen record for Peripheral axonal neuropathy">Peripheral axonal neuropathy</a></span><ul><li><span class="matched_ds">Motor axonal neuropathy</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">
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||
<div class="divPopper rprt" id="rdis_82889"><div><strong>Glucocorticoid deficiency with achalasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82889</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.">C0271742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood glucose (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.\n\nMany of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).\n\nPeople with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.\n\nPeople with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.\n\nAlacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82889">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140765"><div><strong>McLeod neuroacanthocytosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140765</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.">C0398568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS manifestations are a neurodegenerative basal ganglia disease including movement disorders, cognitive alterations, and psychiatric symptoms. Neuromuscular manifestations include a (mostly subclinical) sensorimotor axonopathy and muscle weakness or atrophy of different degrees. Cardiac manifestations include dilated cardiomyopathy, atrial fibrillation, and tachyarrhythmia. Hematologically, MLS is defined as a specific blood group phenotype (named after the first proband, Hugh McLeod) that results from absent expression of the Kx erythrocyte antigen and weakened expression of Kell blood group antigens. The hematologic manifestations are red blood cell acanthocytosis and compensated hemolysis. Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. Females heterozygous for XK pathogenic variants have mosaicism for the Kell and Kx blood group antigens. Although they usually lack CNS and neuromuscular manifestations, some heterozygous females may develop clinical manifestations including chorea or late-onset cognitive decline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140765">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162891"><div><strong>Charcot-Marie-Tooth disease X-linked recessive 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162891</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.">C0795910</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4) is a mitochondrial disorder manifest as progressive neurologic dysfunction with highly variable features. The age at onset ranges from infancy to young adulthood, and patients can present with different features, including hearing loss, delayed motor development, or difficulty walking due to peripheral neuropathy and/or cerebellar ataxia. Most patients develop all features, including a progressive sensorimotor axonal neuropathy and deafness due to auditory neuropathy. Additional more variable features can include cognitive impairment, cerebellar atrophy on brain imaging, cerebellar signs, such as dysarthria, abnormal extraocular movements, tremor, and dysmetria, as well as spasticity. There is significant intrafamilial variability: the variable features are consistent with mitochondrial dysfunction. Prolonged treatment with riboflavin may result in some mild improvement in the ataxia (summary by Rinaldi et al., 2012, Heimer et al., 2018, Bogdanova-Mihaylova et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162891">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324411"><div><strong>Spastic paraplegia, optic atropy, and neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324411</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.">C1836010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive spastic paraplegia resulting in loss of independent ambulation in the teenage years. Additional features include optic atrophy, later onset of sensorimotor peripheral neuropathy, and progressive joint contractures; cognition remains intact (summary by Melo et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324411">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337105"><div><strong>Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337105</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.">C1844864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337105">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376775"><div><strong>Giant axonal neuropathy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376775</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.">C1850386</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GAN-related neurodegeneration comprises a phenotypic continuum ranging from severe (sometimes called classic giant axonal neuropathy) to milder pure early-onset peripheral motor and sensory neuropathies. The classic giant axonal neuropathy phenotype typically manifests as an infantile-onset neurodegenerative disorder, starting as a severe peripheral motor and sensory neuropathy and evolving into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). Most affected individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade. At the milder end of the spectrum are predominantly motor and sensory neuropathies (with little to no CNS involvement) that overlap with the axonal form of Charcot-Marie-Tooth neuropathies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376775">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343157"><div><strong>Hereditary spastic paraplegia 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343157</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.">C1854568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare complex hereditary spastic paraplegia with characteristics of adulthood onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343157">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482001"><div><strong>Neurodegeneration with brain iron accumulation 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482001</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.">C3280371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482001">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766862"><div><strong>Peroxisome biogenesis disorder 6B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766862</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.">C3553948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766862">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1382171"><div><strong>Neurodevelopmental disorder with hypotonia, neuropathy, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1382171</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.">C4479603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SPTBN4 disorder is typically characterized by severe-to-profound developmental delay and/or intellectual disability, although two individuals in one family had a milder phenotype, including one individual with normal cognitive development. Speech and language skills are often severely limited. Affected individuals rarely achieve head control. Most are unable to sit, stand, or walk. Affected individuals typically have congenital hypotonia that may transition to hypertonia. Axonal motor neuropathy leads to hyporeflexia/areflexia and weakness, which can result in respiratory difficulties requiring ventilatory support. Most affected individuals require tube feeding for nutrition. Half of affected individuals develop seizures. Cortical visual impairment and auditory neuropathy have also been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1382171">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1387791"><div><strong>Neurodegeneration with brain iron accumulation 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1387791</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.">C4517377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by Dusi et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1387791">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1617571"><div><strong>Neuronopathy, distal hereditary motor, type 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1617571</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.">C4540265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HMND9 is an autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs (summary by Tsai et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1617571">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648387"><div><strong>Pontocerebellar hypoplasia, type 1D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648387</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.">C4748058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648387">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648286"><div><strong>Neurodegeneration, childhood-onset, with cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648286</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.">C4748934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a severe autosomal recessive neurodevelopmental disorder affecting the central and peripheral nervous system. Patients present in the first year of life with global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. The severity is variable, but death in childhood may occur (Shashi et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648286">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</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.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1786836"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786836</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543119</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7) is characterized by onset of lower leg weakness in the first decade. Affected individuals have difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy. The disorder is slowly progressive and often involves the upper limbs. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. Sensory abnormalities are not typically present, and patients remain ambulatory. The phenotype shows phenotypic overlap with distal hereditary motor neuropathy, but can distinguished by the presence of myopathic features (summary by Deschauer et al., 2021 and Pagnamenta et al., 2021). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1786836">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824000"><div><strong>Charcot-Marie-Tooth disease, axonal, IIa 2II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824000</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.">C5774227</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 2II (CMT2II) is an autosomal dominant neurologic disorder characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties. Some patients may have upper limb involvement with atrophy of the intrinsic hand muscles. The age at onset is highly variable, ranging from infancy to adulthood. Electrophysiologic studies are usually consistent with an axonal process, although some may show intermediate or even demyelinating values (Park et al., 2020; Ando et al., 2022). One family with possible autosomal recessive inheritance has been reported (Bogdanova-Mihaylova et al., 2021). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824000">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824020"><div><strong>Spastic paraplegia 88, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824020</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.">C5774247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant spastic paraplegia-88 (SPG88) is characterized by onset of symptoms in the first year of life. Affected individuals show delayed motor development with walking difficulties due to spasticity of the lower limbs. The disorder is slowly progressive, but variable in severity; some patients are unable to ambulate independently. Most patients have a pure form of the disorder, although rare patients have been reported to have additional features, including peripheral neuropathy, speech delay, ADHD, and nonspecific brain imaging abnormalities (Schob et al., 2021, Estiar et al., 2022, De Winter et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824020">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1849676"><div><strong>Neuronopathy, distal hereditary motor, autosomal dominant 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1849676</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.">C5882697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant distal hereditary motor neuronopathy-11 (HMND11) is a peripheral axonal motor neuropathy characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties. Foot deformities may also be present. The disorder is usually slowly progressive, and patients remain ambulatory until late adulthood. Some affected individuals may have distal upper limb and hand involvement or mild distal sensory abnormalities, but motor symptoms dominate the clinical picture. Electrophysiologic studies are consistent with a length-dependent axonal motor or sensorimotor neuropathy. Seizures are not present and brain imaging is normal (Beijer et al., 2019). One reported affected individual had a marfanoid habitus and mild speech delay with learning disabilities, suggesting possible expansion of the phenotypic spectrum (Ylikallio et al., 2020). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1849676">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1846713"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846713</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.">C5882703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive distal hereditary motor neuronopathy-10 (HMNR10) is a slowly progressive disorder characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities; upper limb involvement often occurs. Most individuals have juvenile or adult onset, but some may show earlier onset in infancy or childhood. Although most affected individuals have a pure distal motor neuropathy, some may also have signs of upper motor neuron disease, including pyramidal signs and hyperreflexia, and some may show mild sensory involvement or mild respiratory insufficiency. Foot deformities and calf atrophy are commonly observed. Intellectual development, cognitive function, and brain imaging are typically normal. Electrophysiologic studies are consistent with an axonal motor (sometimes sensorimotor) neuropathy. In general, patients with earlier onset have a more severe disorder with faster progression (summary by El-Bazzal et al., 2019; Demaegd et al., 2022). El-Bazzal et al. (2019) and Lazo and Morejon-Garcia (2023) noted that VRK1-related motor neuron disease is clinically heterogeneous and has been described by various clinical terms, including spinal muscular atrophy, distal spinal muscular atrophy, amyotrophic lateral sclerosis (ALS), juvenile-onset ALS, hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease, and pure distal motor neuropathy. VRK1 mutations result in functional insufficiency. For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1846713">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1854654"><div><strong>Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854654</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.">C5935628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854654">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1856205"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1856205</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.">C5935630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive distal hereditary motor neuropathy-11 with spasticity (HMNR11) is characterized by onset of slowly progressive distal muscle weakness and atrophy and spasticity of the lower limbs in the first decade of life. Affected individuals have difficulty walking, although ambulation is retained into adulthood. There is usually upper limb involvement. Some patients have foot deformities. Electrophysiologic studies are consistent with a length-dependent axonal motor neuropathy (Maroofian et al., 2024). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1856205">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162891" 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 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824000" 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, IIa 2II</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337105" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Giant axonal neuropathy 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucocorticoid deficiency with achalasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 14</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">McLeod neuroacanthocytosis syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1387791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648286" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration, childhood-onset, with cerebellar atrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1382171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, neuropathy, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1849676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal dominant 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1846713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1856205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1617571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, type 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766862" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 6B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia, type 1D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 88, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324411" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia, optic atropy, and neuropathy</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31907599">Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams D,
|
||
Ando Y,
|
||
Beirão JM,
|
||
Coelho T,
|
||
Gertz MA,
|
||
Gillmore JD,
|
||
Hawkins PN,
|
||
Lousada I,
|
||
Suhr OB,
|
||
Merlini G</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2021 Jun;268(6):2109-2122.
|
||
Epub 2020 Jan 6
|
||
doi: 10.1007/s00415-019-09688-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31907599" target="_blank">31907599</a><a href="/pmc/articles/PMC8179912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23628447">Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Doorn PA</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2013 Jun;42(6 Pt 2):e193-201.
|
||
Epub 2013 Apr 28
|
||
doi: 10.1016/j.lpm.2013.02.328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23628447" target="_blank">23628447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15018590">Guillain-Barré syndrome: epidemiology, pathophysiology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuwabara S</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2004;64(6):597-610.
|
||
doi: 10.2165/00003495-200464060-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15018590" target="_blank">15018590</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22motor%20axonal%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 (16)</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/34506042">Pain in acute motor axonal neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao F,
|
||
Wang J,
|
||
Zhang J,
|
||
Pang X,
|
||
Huang S,
|
||
Chang X,
|
||
Guo J,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2021 Dec;64(6):739-743.
|
||
Epub 2021 Sep 24
|
||
doi: 10.1002/mus.27414.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34506042" target="_blank">34506042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33238935">Clinical characteristics of Epstein-Barr virus infection in the pediatric nervous system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng H,
|
||
Chen D,
|
||
Peng X,
|
||
Wu P,
|
||
Jiang L,
|
||
Hu Y</span><br />
|
||
<span class="medgenPMjournal">BMC Infect Dis</span>
|
||
2020 Nov 25;20(1):886.
|
||
doi: 10.1186/s12879-020-05623-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33238935" target="_blank">33238935</a><a href="/pmc/articles/PMC7691062" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29375121">Guillain-Barré syndrome, transverse myelitis and infectious diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez Y,
|
||
Rojas M,
|
||
Pacheco Y,
|
||
Acosta-Ampudia Y,
|
||
Ramírez-Santana C,
|
||
Monsalve DM,
|
||
Gershwin ME,
|
||
Anaya JM</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Immunol</span>
|
||
2018 Jun;15(6):547-562.
|
||
Epub 2018 Jan 29
|
||
doi: 10.1038/cmi.2017.142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29375121" target="_blank">29375121</a><a href="/pmc/articles/PMC6079071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25979580">Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ansar V,
|
||
Valadi N</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2015 Jun;42(2):189-93.
|
||
Epub 2015 Mar 20
|
||
doi: 10.1016/j.pop.2015.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25979580" target="_blank">25979580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9665983">Campylobacter species and Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nachamkin I,
|
||
Allos BM,
|
||
Ho T</span><br />
|
||
<span class="medgenPMjournal">Clin Microbiol Rev</span>
|
||
1998 Jul;11(3):555-67.
|
||
doi: 10.1128/CMR.11.3.555.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9665983" target="_blank">9665983</a><a href="/pmc/articles/PMC88896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20axonal%20neuropathy%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 (150)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32140865">Axonal variants of Guillain-Barré syndrome: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shang P,
|
||
Zhu M,
|
||
Wang Y,
|
||
Zheng X,
|
||
Wu X,
|
||
Zhu J,
|
||
Feng J,
|
||
Zhang HL</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2021 Jul;268(7):2402-2419.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1007/s00415-020-09742-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32140865" target="_blank">32140865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31907599">Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adams D,
|
||
Ando Y,
|
||
Beirão JM,
|
||
Coelho T,
|
||
Gertz MA,
|
||
Gillmore JD,
|
||
Hawkins PN,
|
||
Lousada I,
|
||
Suhr OB,
|
||
Merlini G</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2021 Jun;268(6):2109-2122.
|
||
Epub 2020 Jan 6
|
||
doi: 10.1007/s00415-019-09688-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31907599" target="_blank">31907599</a><a href="/pmc/articles/PMC8179912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25979580">Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ansar V,
|
||
Valadi N</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2015 Jun;42(2):189-93.
|
||
Epub 2015 Mar 20
|
||
doi: 10.1016/j.pop.2015.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25979580" target="_blank">25979580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23628447">Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Doorn PA</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2013 Jun;42(6 Pt 2):e193-201.
|
||
Epub 2013 Apr 28
|
||
doi: 10.1016/j.lpm.2013.02.328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23628447" target="_blank">23628447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16271648">Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes RA,
|
||
Cornblath DR</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2005 Nov 5;366(9497):1653-66.
|
||
doi: 10.1016/S0140-6736(05)67665-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16271648" target="_blank">16271648</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20axonal%20neuropathy%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 (248)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38752584">Guillain-Barré syndrome: History, pathogenesis, treatment, and future directions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes RAC</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2024 Nov;31(11):e16346.
|
||
Epub 2024 May 16
|
||
doi: 10.1111/ene.16346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38752584" target="_blank">38752584</a><a href="/pmc/articles/PMC11464409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32140865">Axonal variants of Guillain-Barré syndrome: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shang P,
|
||
Zhu M,
|
||
Wang Y,
|
||
Zheng X,
|
||
Wu X,
|
||
Zhu J,
|
||
Feng J,
|
||
Zhang HL</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2021 Jul;268(7):2402-2419.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1007/s00415-020-09742-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32140865" target="_blank">32140865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25979580">Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ansar V,
|
||
Valadi N</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2015 Jun;42(2):189-93.
|
||
Epub 2015 Mar 20
|
||
doi: 10.1016/j.pop.2015.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25979580" target="_blank">25979580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16271648">Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes RA,
|
||
Cornblath DR</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2005 Nov 5;366(9497):1653-66.
|
||
doi: 10.1016/S0140-6736(05)67665-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16271648" target="_blank">16271648</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15018590">Guillain-Barré syndrome: epidemiology, pathophysiology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuwabara S</span><br />
|
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<span class="medgenPMjournal">Drugs</span>
|
||
2004;64(6):597-610.
|
||
doi: 10.2165/00003495-200464060-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15018590" target="_blank">15018590</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20axonal%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 (106)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33780722">The value of sensory nerve conduction studies in the diagnosis of Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Freiha J,
|
||
Zoghaib R,
|
||
Makhoul K,
|
||
Maalouf N,
|
||
Riachi N,
|
||
Chalah MA,
|
||
Ayache SS,
|
||
Ahdab R</span><br />
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<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2021 May;132(5):1157-1162.
|
||
Epub 2021 Mar 13
|
||
doi: 10.1016/j.clinph.2021.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33780722" target="_blank">33780722</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31471269">Fatal Acute Motor Axonal Neuropathy Induced by Nivolumab: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yildirim N,
|
||
Gonen M,
|
||
Balgetir F,
|
||
Er MB</span><br />
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<span class="medgenPMjournal">Clin Genitourin Cancer</span>
|
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2019 Dec;17(6):e1104-e1107.
|
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Epub 2019 Aug 5
|
||
doi: 10.1016/j.clgc.2019.07.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31471269" target="_blank">31471269</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23628447">Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Doorn PA</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2013 Jun;42(6 Pt 2):e193-201.
|
||
Epub 2013 Apr 28
|
||
doi: 10.1016/j.lpm.2013.02.328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23628447" target="_blank">23628447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16271648">Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes RA,
|
||
Cornblath DR</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2005 Nov 5;366(9497):1653-66.
|
||
doi: 10.1016/S0140-6736(05)67665-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16271648" target="_blank">16271648</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15018590">Guillain-Barré syndrome: epidemiology, pathophysiology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kuwabara S</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2004;64(6):597-610.
|
||
doi: 10.2165/00003495-200464060-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15018590" target="_blank">15018590</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20axonal%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 (142)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36973043">Clinical Spectrum and Prognosis in Patients With Acute Nutritional Axonal Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamel JI,
|
||
Logigian EL</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 May 16;100(20):e2134-e2140.
|
||
Epub 2023 Mar 27
|
||
doi: 10.1212/WNL.0000000000207215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36973043" target="_blank">36973043</a><a href="/pmc/articles/PMC10186231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32852287">Clinical and Electrophysiological Features of Chronic Motor Axonal Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang D,
|
||
Geng H,
|
||
Cao L,
|
||
Li W</span><br />
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<span class="medgenPMjournal">J Clin Neurophysiol</span>
|
||
2022 May 1;39(4):317-323.
|
||
Epub 2020 Nov 20
|
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doi: 10.1097/WNP.0000000000000771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32852287" target="_blank">32852287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33780722">The value of sensory nerve conduction studies in the diagnosis of Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Freiha J,
|
||
Zoghaib R,
|
||
Makhoul K,
|
||
Maalouf N,
|
||
Riachi N,
|
||
Chalah MA,
|
||
Ayache SS,
|
||
Ahdab R</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2021 May;132(5):1157-1162.
|
||
Epub 2021 Mar 13
|
||
doi: 10.1016/j.clinph.2021.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33780722" target="_blank">33780722</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30696330">A Novel Treatment Strategy for Severe Guillain-Barré Syndrome: Zipper Method.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kesici S,
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Tanyıldız M,
|
||
Yetimakman F,
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||
Bayrakci B</span><br />
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<span class="medgenPMjournal">J Child Neurol</span>
|
||
2019 Apr;34(5):277-283.
|
||
Epub 2019 Jan 29
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||
doi: 10.1177/0883073819826225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30696330" target="_blank">30696330</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23628447">Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Doorn PA</span><br />
|
||
<span class="medgenPMjournal">Presse Med</span>
|
||
2013 Jun;42(6 Pt 2):e193-201.
|
||
Epub 2013 Apr 28
|
||
doi: 10.1016/j.lpm.2013.02.328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23628447" target="_blank">23628447</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20axonal%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 (119)</a></div></div>
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|
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36430700">Triggers of Guillain-Barré Syndrome: Campylobacter jejuni Predominates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Nov 17;23(22)
|
||
doi: 10.3390/ijms232214222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36430700" target="_blank">36430700</a><a href="/pmc/articles/PMC9696744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34060708">Systematic review of cases of acute myelitis in individuals with COVID-19.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schulte EC,
|
||
Hauer L,
|
||
Kunz AB,
|
||
Sellner J</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2021 Oct;28(10):3230-3244.
|
||
Epub 2021 Jul 12
|
||
doi: 10.1111/ene.14952.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34060708" target="_blank">34060708</a><a href="/pmc/articles/PMC8239542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31937584">Hyper-reflexia in Guillain-Barré syndrome: systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uncini A,
|
||
Notturno F,
|
||
Kuwabara S</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2020 Mar;91(3):278-284.
|
||
Epub 2020 Jan 14
|
||
doi: 10.1136/jnnp-2019-321890.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31937584" target="_blank">31937584</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29490222">Predictors of respiratory failure in patients with Guillain-Barré syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green C,
|
||
Baker T,
|
||
Subramaniam A</span><br />
|
||
<span class="medgenPMjournal">Med J Aust</span>
|
||
2018 Mar 5;208(4):181-188.
|
||
doi: 10.5694/mja17.00552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29490222" target="_blank">29490222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29153605">Associations between tumor necrosis factor-α gene polymorphisms and the risk of Guillain-Barré syndrome and its subtypes: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Lian Z,
|
||
Chen H,
|
||
Shi Z,
|
||
Feng H,
|
||
Du Q,
|
||
Zhang Q,
|
||
Zhou H</span><br />
|
||
<span class="medgenPMjournal">J Neuroimmunol</span>
|
||
2017 Dec 15;313:25-33.
|
||
Epub 2017 Oct 7
|
||
doi: 10.1016/j.jneuroim.2017.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29153605" target="_blank">29153605</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Motor%20axonal%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 (8)</a></div></div>
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