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<meta name="keywords" content="C1856694, absent lower limb tendon reflexes, areflexia in lower limbs, areflexia of lower limbs, areflexia of the lower limbs, areflexia, lower limbs, finding, 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="Inability to elicit tendon reflexes in the lower limbs." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=347285
|
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ConceptID=C1856694
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Areflexia of lower limbs</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347285</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.">C1856694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Absent lower limb tendon reflexes; Areflexia in lower limbs; Areflexia of the lower limbs; Areflexia, lower limbs</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:0002522">HP:0002522</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Inability to elicit tendon reflexes in the lower limbs. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Areflexia of lower limbs</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/242750" ref="tree=MeSH" title="MedGen record for Abnormality of the lower limb">Abnormality of the lower limb</a></span><ul><li><span class="matched_ds">Areflexia of lower limbs</span><ul><li><span class="TLline"><a href="/medgen/643630" ref="tree=MeSH" title="MedGen record for Absent patellar reflexes">Absent patellar reflexes</a></span></li><li><span class="TLline"><a href="/medgen/340635" ref="tree=MeSH" title="MedGen record for Decreased/absent ankle reflexes">Decreased/absent ankle reflexes</a></span><ul><li><span class="TLline"><a href="/medgen/108240" ref="tree=MeSH" title="MedGen record for Absent Achilles reflex">Absent Achilles reflex</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_96563"><div><strong>Gillespie syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96563</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.">C0431401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331597"><div><strong>Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331597</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.">C1833831</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/331597">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_320286"><div><strong>Neuropathy, congenital, with arthrogryposis multiplex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320286</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.">C1834206</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/320286">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322471"><div><strong>Neuronopathy, distal hereditary motor, type 2A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322471</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.">C1834692</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-2 (HMND2) is a motor neuron disease without sensory loss with an onset age of 15 to 25 years. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet. The disease progresses to complete paralysis of all distal muscles of the lower extremities. Affected individuals have chronic neurogenic alterations in electromyography (summary by Irobi et al., 2004). Some individuals show changes consistent with myofibrillar myopathy on muscle biopsy (Ghaoui et al., 2016). 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/322471">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373347"><div><strong>Spinocerebellar ataxia type 25</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373347</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.">C1837518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia-25 (SCA25) is an autosomal dominant neurologic disorder characterized by the onset of lower limb ataxia resulting in gait difficulties in the first few decades of life, although later onset has been reported. Affected individuals often have upper limb involvement, dysarthria, scoliosis, abnormal eye movements, and sensory neuropathy with decreased reflexes. Some patients have sensorineural hearing loss. Brain imaging shows cerebellar atrophy. There is incomplete penetrance and variable expressivity, even within families (Barbier et al., 2022). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373347">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325364"><div><strong>Spinal muscular atrophy, type IV</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325364</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.">C1838230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325364">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374254"><div><strong>Charcot-Marie-Tooth disease X-linked recessive 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374254</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839566</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Phosphoribosylpyrophosphate synthetase (PRS) deficiency, an X-linked disorder, is a phenotypic continuum comprising three disorders previously thought to be clinically distinct: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked nonsyndromic sensorineural hearing loss (DFNX1). In affected males, the PRS deficiency phenotypic spectrum ranges from severe congenital profound sensorineural hearing loss, intellectual disability, delayed motor development, and progressive ophthalmologic involvement (retinal dystrophy and optic atrophy) to normal cognitive abilities and relatively later-onset, somewhat milder manifestations, such as mild sensorineural hearing loss, peripheral neuropathy, and gait ataxia. Heterozygous females can show isolated and/or milder manifestations in the PRS deficiency spectrum. To date, 40 families with PRS deficiency have been reported.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/374254">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335784"><div><strong>Charcot-Marie-Tooth disease axonal type 2F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335784</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.">C1847823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335784">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>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/376775">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383962"><div><strong>Friedreich ataxia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383962</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:">C1856689</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have "typical Friedreich ataxia" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have "atypical Friedreich ataxia" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400895"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400895</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.">C1866008</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-7 (LGMDR7), also known as LGMDR7, is a skeletal muscle disorder with age of onset in the first or second decade of life. Weakness of proximal and some distal muscles progresses to inability to walk by the third or fourth decade, although some individuals retain the ability to walk without support later. Heart involvement may be present. Creatine kinase levels are increased as much as 30-fold (summary by Moreira et al., 2000). For a general description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400895">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_382017"><div><strong>Neuronopathy, distal hereditary motor, type 2B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382017</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.">C2608087</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-3 (HMND3) is a slowly progressive adult-onset motor neuron disorder without sensory involvement. Weakness and atrophy of distal lower limb muscles begins in the third to sixth decade and progresses to the upper limbs 5 to 10 years later (Houlden et al., 2008). 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/382017">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481798"><div><strong>Neuropathy, hereditary sensory, type 2C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481798</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.">C3280168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766969"><div><strong>Peroxisome biogenesis disorder 14B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766969</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.">C3554055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported. Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (214100) spectrum' (ZSS) disorder. See PBD1B (601539) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (614879) for another atypical peroxisome biogenesis disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766969">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816655"><div><strong>Hereditary sclerosing poikiloderma with tendon and pulmonary involvement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816655</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.">C3810325</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is characterized by the skin findings of poikiloderma (typically beginning in the first six months and mainly localized to the face), hypohidrosis with heat intolerance, mild lymphedema of the extremities, chronic erythematous and scaly skin lesions on the extremities, sclerosis of the digits, and mild palmoplantar keratoderma. Scalp hair, eyelashes, and/or eyebrows are typically sparse. Muscle contractures are usually seen in childhood and can be present as early as age two years. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. Some adults develop progressive interstitial pulmonary fibrosis, which can be life threatening within three to four years after respiratory symptoms appear. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816655">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_860163"><div><strong>Myopathy, tubular aggregate, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860163</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.">C4011726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate Myopathy See also TAM2 (615883), caused by mutation in the ORAI1 gene (610277) on chromosome 12q24.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/860163">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862994"><div><strong>Myopathy, tubular aggregate, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862994</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.">C4014557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862994">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863786"><div><strong>Charcot-Marie-Tooth disease axonal type 2S</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863786</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.">C4015349</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 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863786">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863873"><div><strong>Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863873</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.">C4015436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive multisystem disorder including defects in glucose metabolism, diffuse neurodegeneration, multiple hormone deficiencies, severe growth retardation with possible growth hormone deficiencies, and subtle osseous changes suggesting early-onset bone dysplasia (summary by Ozon et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863873">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_896387"><div><strong>Hereditary spastic paraplegia 75</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896387</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.">C4225250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-75 (SPG75) is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood (summary by Lossos et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/896387">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_898996"><div><strong>Lichtenstein-Knorr syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898996</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.">C4225383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015). Some patients with SLC9A1 mutations may not have deafness (Iwama et al., 2018)</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898996">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_1631838"><div><strong>Mitochondrial DNA depletion syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631838</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.">C4551995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1631838">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648480"><div><strong>Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648480</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.">C4748283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive peripheral neuropathy with or without impaired intellectual development is an early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients. Most affected individuals also have impaired intellectual development, although some have normal cognition. Electrophysiologic testing and sural nerve biopsy are most compatible with an axonal motor neuropathy; some patients may show signs of demyelination. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis (summary by Ylikallio et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648480">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677784"><div><strong>Lethal arthrogryposis-anterior horn cell disease syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677784</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.">C5193016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017). Distinction from Lethal Congenital Contracture Syndrome 1 Biallelic mutation in the GLE1 gene can also cause LCCS1, which is lethal in utero. However, distinguishing between LCCS1 and CAAHD is controversial. Smith et al. (2017) suggested that differentiating between the 2 disorders has limited utility, and that they may represent a genotype/phenotype correlation rather than 2 different disease entities. In contrast, Said et al. (2017) concluded that LCCS1 represents a distinct clinical entity in which all affected individuals die prenatally and exhibit no fetal movements. Vuopala et al. (1995) differentiated CAAHD from LCCS1, noting that both are prevalent in Finland. LCCS1 is always fatal during the fetal period, presenting with severe hydrops and intrauterine growth retardation. In LCCS1, the spinal cord is macroscopically thinned because of an early reduction of the anterior horn and a paucity of anterior horn cells. The skeletal muscles are extremely hypoplastic, even difficult to locate. Infants with CAAHD survive longer than those with LCCS1, and when present, hydrops and intrauterine growth retardation are mild. The macroscopic findings of the central nervous system and skeletal muscles are closer to normal, although microscopic analysis also shows degeneration of anterior horn cells. In addition, birthplaces of ancestors of affected individuals do not show clustering in the northeast part of Finland, as is the case with LCCS1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1677784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1714342"><div><strong>Mitchell syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1714342</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.">C5394554</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitchell syndrome (MITCH) is a progressive disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and hearing loss (Chung et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1714342">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794213"><div><strong>Charcot-Marie-Tooth disease, axonal, Type 2HH</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794213</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.">C5562003</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 2HH (CMT2HH) is an autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. The vocal cord paresis remains throughout life and may be severe enough to require tracheostomy. Additional features of the disorder usually include pes cavus and scoliosis. Some patients have mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved, and distal sensory impairment, often with hyporeflexia (Sullivan et al., 2020). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794213">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1800447"><div><strong>Charcot-Marie-Tooth disease axonal type 2X</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800447</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.">C5569024</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 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016) For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1800447">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809728"><div><strong>Peripheral motor neuropathy, childhood-onset, biotin-responsive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809728</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.">C5676997</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Childhood-onset biotin-responsive peripheral motor neuropathy (COMNB) is an autosomal recessive disorder characterized predominantly by the onset of distal muscle weakness and atrophy late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Some patients may have lower limb involvement, resulting in gait difficulties. Electrophysiologic studies and muscle biopsy are consistent with chronic denervation with axonal and demyelinating features. Rare patients may have additional neurologic signs, including spasticity, ataxia, and cerebellar signs. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement (Holling et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824022"><div><strong>Charcot-Marie-Tooth disease, demyelinating, type 1J</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824022</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.">C5774249</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 1J (CMT1J) is an autosomal dominant sensorimotor peripheral neuropathy characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities. The age at onset is highly variable, ranging from early childhood to mid-adulthood, and the disorder is progressive, although the severity is also variable. Additional features may include foot deformities, upper limb or hand involvement, and decreased or absent deep tendon reflexes. Electrophysiologic studies tend to show nerve conduction velocities in the demyelinating range, although some patients may have results in the intermediate range, likely reflecting secondary axonal degeneration (summary by Ronkko et al., 2020). For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824022">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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2G</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335784" 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 2F</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863786" 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 2S</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1800447" 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 2X</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374254" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease X-linked recessive 5</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (31)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794213" 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 2HH</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease, demyelinating, type 1J</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Friedreich ataxia 1</a></div>
|
||
<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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gillespie syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary sclerosing poikiloderma with tendon and pulmonary involvement</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 75</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863873" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal arthrogryposis-anterior horn cell disease syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_898996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lichtenstein-Knorr syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1714342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitchell syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_860163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, tubular aggregate, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862994" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, tubular aggregate, 2</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_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_322471" 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 2A</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382017" 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 2B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320286" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, congenital, with arthrogryposis multiplex</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory, type 2C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331597" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral motor neuropathy, childhood-onset, biotin-responsive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 14B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy, type IV</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 25</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/28221302">Diagnostic Criteria for Small Fiber Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blackmore D,
|
||
Siddiqi ZA</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2017 Mar;18(3):125-131.
|
||
doi: 10.1097/CND.0000000000000154.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28221302" target="_blank">28221302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22001121">Guillain-Barré Syndrome in India: population-based validation of the Brighton criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mateen FJ,
|
||
Cornblath DR,
|
||
Jafari H,
|
||
Shinohara RT,
|
||
Khandit D,
|
||
Ahuja B,
|
||
Bahl S,
|
||
Sutter RW</span><br />
|
||
<span class="medgenPMjournal">Vaccine</span>
|
||
2011 Dec 6;29(52):9697-701.
|
||
Epub 2011 Oct 11
|
||
doi: 10.1016/j.vaccine.2011.09.123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22001121" target="_blank">22001121</a><a href="/pmc/articles/PMC3638251" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2657965">Reflex inhibition of thigh muscles in knee injury. Causes and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morrissey MC</span><br />
|
||
<span class="medgenPMjournal">Sports Med</span>
|
||
1989 Apr;7(4):263-76.
|
||
doi: 10.2165/00007256-198907040-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2657965" target="_blank">2657965</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(areflexia%20of%20lower%20limbs)%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 (8)</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/38767661">Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coly M,
|
||
Adams D,
|
||
Attarian S,
|
||
Bouhour F,
|
||
Camdessanché JP,
|
||
Carey G,
|
||
Cauquil C,
|
||
Chanson JB,
|
||
Chrétien P,
|
||
Créange A,
|
||
Delmont E,
|
||
Fargeot G,
|
||
Frachet S,
|
||
Gendre T,
|
||
Kuntzer T,
|
||
Labeyrie C,
|
||
Maisonobe T,
|
||
Michaud M,
|
||
Moulin M,
|
||
Nicolas G,
|
||
Noury JB,
|
||
Péréon Y,
|
||
Puma A,
|
||
Sole G,
|
||
Taithe F,
|
||
Tard C,
|
||
Théaudin M,
|
||
Timsit S,
|
||
Venditti L,
|
||
Echaniz-Laguna A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 Aug;271(8):4982-4990.
|
||
Epub 2024 May 20
|
||
doi: 10.1007/s00415-024-12410-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38767661" target="_blank">38767661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33650811">Benign monomelic amyotrophy of lower limb in a cohort of chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
|
||
Wen H,
|
||
Chen S,
|
||
Wang H,
|
||
Zheng Y,
|
||
Chen R,
|
||
Li J,
|
||
Jiang K,
|
||
Xiang H,
|
||
Zhu M,
|
||
Zhou M,
|
||
Yao S,
|
||
Hong D</span><br />
|
||
<span class="medgenPMjournal">Brain Behav</span>
|
||
2021 Apr;11(4):e02073.
|
||
Epub 2021 Mar 2
|
||
doi: 10.1002/brb3.2073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33650811" target="_blank">33650811</a><a href="/pmc/articles/PMC8035448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28102815">Assessment of the characteristics and quality of life of patients with uremic peripheral neuropathy
.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu XZ,
|
||
Lu S,
|
||
Gou W,
|
||
Wang W,
|
||
Zou SH,
|
||
Han YX,
|
||
Wang WW,
|
||
Zhang JY</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2017 Mar;87 (2017)(3):134-139.
|
||
doi: 10.5414/CN108913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28102815" target="_blank">28102815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/657884">Surgical treatment of spasticity in cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fasano VA,
|
||
Broggi G,
|
||
Barolat-Romana G,
|
||
Sguazzi A</span><br />
|
||
<span class="medgenPMjournal">Childs Brain</span>
|
||
1978;4(5):289-305.
|
||
doi: 10.1159/000119785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/657884" target="_blank">657884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4651324">Neurological complications of fractures and dislocations of the pelvis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson FP,
|
||
Morton KS</span><br />
|
||
<span class="medgenPMjournal">J Trauma</span>
|
||
1972 Dec;12(12):1013-23.
|
||
doi: 10.1097/00005373-197212000-00002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4651324" target="_blank">4651324</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Areflexia%20of%20lower%20limbs%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 (159)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38767661">Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coly M,
|
||
Adams D,
|
||
Attarian S,
|
||
Bouhour F,
|
||
Camdessanché JP,
|
||
Carey G,
|
||
Cauquil C,
|
||
Chanson JB,
|
||
Chrétien P,
|
||
Créange A,
|
||
Delmont E,
|
||
Fargeot G,
|
||
Frachet S,
|
||
Gendre T,
|
||
Kuntzer T,
|
||
Labeyrie C,
|
||
Maisonobe T,
|
||
Michaud M,
|
||
Moulin M,
|
||
Nicolas G,
|
||
Noury JB,
|
||
Péréon Y,
|
||
Puma A,
|
||
Sole G,
|
||
Taithe F,
|
||
Tard C,
|
||
Théaudin M,
|
||
Timsit S,
|
||
Venditti L,
|
||
Echaniz-Laguna A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 Aug;271(8):4982-4990.
|
||
Epub 2024 May 20
|
||
doi: 10.1007/s00415-024-12410-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38767661" target="_blank">38767661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36864244">Facial onset sensory and motor neuronopathy (FOSMN syndrome): Cases series and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu N,
|
||
Zhang L,
|
||
Yang X,
|
||
Fu H,
|
||
Cui L,
|
||
Liu M</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Jun;44(6):1969-1978.
|
||
Epub 2023 Mar 3
|
||
doi: 10.1007/s10072-023-06703-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36864244" target="_blank">36864244</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33849992">Clinical Reasoning: A 70-Year-Old Man With Right Arm and Leg Shaking.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frey J,
|
||
Seachrist E</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Jun 8;96(23):1098-1101.
|
||
Epub 2021 Apr 13
|
||
doi: 10.1212/WNL.0000000000012047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33849992" target="_blank">33849992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33357592">Clinical features of spinal muscular atrophy (SMA) type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cancès C,
|
||
Richelme C,
|
||
Barnerias C,
|
||
Espil C</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr</span>
|
||
2020 Dec;27(7S):7S18-7S22.
|
||
doi: 10.1016/S0929-693X(20)30272-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33357592" target="_blank">33357592</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32053302">Hung-up Knee Jerk in Huntington's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukumoto T,
|
||
Miyamoto R</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Feb 13;382(7):e10.
|
||
doi: 10.1056/NEJMicm1910309.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32053302" target="_blank">32053302</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Areflexia%20of%20lower%20limbs%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 (219)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36315834">Miller-Fisher syndrome and Guillain-Barre syndrome overlap syndrome following inactivated COVID-19 vaccine: Case report and scope review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang H,
|
||
Cao Y,
|
||
Zhong W,
|
||
Ma Z,
|
||
Liu J,
|
||
Chen H</span><br />
|
||
<span class="medgenPMjournal">Hum Vaccin Immunother</span>
|
||
2022 Nov 30;18(6):2125753.
|
||
Epub 2022 Oct 31
|
||
doi: 10.1080/21645515.2022.2125753.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36315834" target="_blank">36315834</a><a href="/pmc/articles/PMC9746535" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31266172">Botulinum Toxin Type A and Physiotherapy in Spasticity of the Lower Limbs Due to Amyotrophic Lateral Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marvulli R,
|
||
Megna M,
|
||
Citraro A,
|
||
Vacca E,
|
||
Napolitano M,
|
||
Gallo G,
|
||
Fiore P,
|
||
Ianieri G</span><br />
|
||
<span class="medgenPMjournal">Toxins (Basel)</span>
|
||
2019 Jul 1;11(7)
|
||
doi: 10.3390/toxins11070381.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31266172" target="_blank">31266172</a><a href="/pmc/articles/PMC6669765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26740065">Dimensionality and Item-Difficulty Hierarchy of the Lower Extremity Fugl-Meyer Assessment in Individuals With Subacute and Chronic Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balasubramanian CK,
|
||
Li CY,
|
||
Bowden MG,
|
||
Duncan PW,
|
||
Kautz SA,
|
||
Velozo CA</span><br />
|
||
<span class="medgenPMjournal">Arch Phys Med Rehabil</span>
|
||
2016 Apr;97(4):582-589.e2.
|
||
Epub 2015 Dec 29
|
||
doi: 10.1016/j.apmr.2015.12.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26740065" target="_blank">26740065</a><a href="/pmc/articles/PMC5223484" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26440850">Isoniazid induced motor-dominant neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arsalan R,
|
||
Sabzwari S</span><br />
|
||
<span class="medgenPMjournal">J Pak Med Assoc</span>
|
||
2015 Oct;65(10):1131-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26440850" target="_blank">26440850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6266823">Adverse effects of phenytoin on peripheral nerves and neuromuscular junction: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">So EL,
|
||
Penry JK</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
1981 Aug;22(4):467-73.
|
||
doi: 10.1111/j.1528-1157.1981.tb06157.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6266823" target="_blank">6266823</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Areflexia%20of%20lower%20limbs%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 (89)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38767661">Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coly M,
|
||
Adams D,
|
||
Attarian S,
|
||
Bouhour F,
|
||
Camdessanché JP,
|
||
Carey G,
|
||
Cauquil C,
|
||
Chanson JB,
|
||
Chrétien P,
|
||
Créange A,
|
||
Delmont E,
|
||
Fargeot G,
|
||
Frachet S,
|
||
Gendre T,
|
||
Kuntzer T,
|
||
Labeyrie C,
|
||
Maisonobe T,
|
||
Michaud M,
|
||
Moulin M,
|
||
Nicolas G,
|
||
Noury JB,
|
||
Péréon Y,
|
||
Puma A,
|
||
Sole G,
|
||
Taithe F,
|
||
Tard C,
|
||
Théaudin M,
|
||
Timsit S,
|
||
Venditti L,
|
||
Echaniz-Laguna A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 Aug;271(8):4982-4990.
|
||
Epub 2024 May 20
|
||
doi: 10.1007/s00415-024-12410-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38767661" target="_blank">38767661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38299252">MRI of the Spine in Patients who Toe Walk: Is There a Role?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flaugh RA,
|
||
May CJ,
|
||
Curran P,
|
||
Miller PE,
|
||
Kasser JR,
|
||
Shore BJ</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2024 Apr 1;44(4):267-272.
|
||
Epub 2024 Feb 2
|
||
doi: 10.1097/BPO.0000000000002633.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38299252" target="_blank">38299252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36864244">Facial onset sensory and motor neuronopathy (FOSMN syndrome): Cases series and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu N,
|
||
Zhang L,
|
||
Yang X,
|
||
Fu H,
|
||
Cui L,
|
||
Liu M</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Jun;44(6):1969-1978.
|
||
Epub 2023 Mar 3
|
||
doi: 10.1007/s10072-023-06703-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36864244" target="_blank">36864244</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33650811">Benign monomelic amyotrophy of lower limb in a cohort of chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang L,
|
||
Wen H,
|
||
Chen S,
|
||
Wang H,
|
||
Zheng Y,
|
||
Chen R,
|
||
Li J,
|
||
Jiang K,
|
||
Xiang H,
|
||
Zhu M,
|
||
Zhou M,
|
||
Yao S,
|
||
Hong D</span><br />
|
||
<span class="medgenPMjournal">Brain Behav</span>
|
||
2021 Apr;11(4):e02073.
|
||
Epub 2021 Mar 2
|
||
doi: 10.1002/brb3.2073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33650811" target="_blank">33650811</a><a href="/pmc/articles/PMC8035448" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/657884">Surgical treatment of spasticity in cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fasano VA,
|
||
Broggi G,
|
||
Barolat-Romana G,
|
||
Sguazzi A</span><br />
|
||
<span class="medgenPMjournal">Childs Brain</span>
|
||
1978;4(5):289-305.
|
||
doi: 10.1159/000119785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/657884" target="_blank">657884</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Areflexia%20of%20lower%20limbs%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 (88)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38767661">Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coly M,
|
||
Adams D,
|
||
Attarian S,
|
||
Bouhour F,
|
||
Camdessanché JP,
|
||
Carey G,
|
||
Cauquil C,
|
||
Chanson JB,
|
||
Chrétien P,
|
||
Créange A,
|
||
Delmont E,
|
||
Fargeot G,
|
||
Frachet S,
|
||
Gendre T,
|
||
Kuntzer T,
|
||
Labeyrie C,
|
||
Maisonobe T,
|
||
Michaud M,
|
||
Moulin M,
|
||
Nicolas G,
|
||
Noury JB,
|
||
Péréon Y,
|
||
Puma A,
|
||
Sole G,
|
||
Taithe F,
|
||
Tard C,
|
||
Théaudin M,
|
||
Timsit S,
|
||
Venditti L,
|
||
Echaniz-Laguna A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 Aug;271(8):4982-4990.
|
||
Epub 2024 May 20
|
||
doi: 10.1007/s00415-024-12410-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38767661" target="_blank">38767661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36864244">Facial onset sensory and motor neuronopathy (FOSMN syndrome): Cases series and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu N,
|
||
Zhang L,
|
||
Yang X,
|
||
Fu H,
|
||
Cui L,
|
||
Liu M</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Jun;44(6):1969-1978.
|
||
Epub 2023 Mar 3
|
||
doi: 10.1007/s10072-023-06703-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36864244" target="_blank">36864244</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28102815">Assessment of the characteristics and quality of life of patients with uremic peripheral neuropathy
.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu XZ,
|
||
Lu S,
|
||
Gou W,
|
||
Wang W,
|
||
Zou SH,
|
||
Han YX,
|
||
Wang WW,
|
||
Zhang JY</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
2017 Mar;87 (2017)(3):134-139.
|
||
doi: 10.5414/CN108913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28102815" target="_blank">28102815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/657884">Surgical treatment of spasticity in cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fasano VA,
|
||
Broggi G,
|
||
Barolat-Romana G,
|
||
Sguazzi A</span><br />
|
||
<span class="medgenPMjournal">Childs Brain</span>
|
||
1978;4(5):289-305.
|
||
doi: 10.1159/000119785.
|
||
<span class="bold">PMID: </span><a href="/pubmed/657884" target="_blank">657884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4770656">Quantification of spasticity and assessment of drug action in multiple sclerosis patients by a scoring system based on an optical mark reader documentation system. Preliminary results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lowitzsch K</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
1973;49(5):613-25.
|
||
doi: 10.1111/j.1600-0404.1973.tb01334.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4770656" target="_blank">4770656</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Areflexia%20of%20lower%20limbs%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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<div class="nl"><a target="_blank" href="/pubmed/36864244">Facial onset sensory and motor neuronopathy (FOSMN syndrome): Cases series and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu N,
|
||
Zhang L,
|
||
Yang X,
|
||
Fu H,
|
||
Cui L,
|
||
Liu M</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Jun;44(6):1969-1978.
|
||
Epub 2023 Mar 3
|
||
doi: 10.1007/s10072-023-06703-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36864244" target="_blank">36864244</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Areflexia%20of%20lower%20limbs%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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