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<meta name="keywords" content="C1834696, finding, hyporeflexia in lower limbs, hyporeflexia in the lower limbs, hyporeflexia of lower limbs, hyporeflexia of the lower limbs, hyporeflexia, lower limbs, hyporeflexia/areflexia in lower limbs, lower limb hyporeflexia, 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="Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=371881
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ConceptID=C1834696
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyporeflexia of lower limbs</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371881</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.">C1834696</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Hyporeflexia in lower limbs; Hyporeflexia in the lower limbs; Hyporeflexia of the lower limbs; Hyporeflexia, lower limbs; Hyporeflexia/areflexia in lower limbs; Lower limb hyporeflexia</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:0002600">HP:0002600</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>
|
||
<div class="portlet_content ln">Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. [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=C1834696[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=371881">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Hyporeflexia 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">Hyporeflexia of lower limbs</span><ul><li><span class="TLline"><a href="/medgen/324765" ref="tree=MeSH" title="MedGen record for Decreased Achilles reflex">Decreased Achilles reflex</a></span></li><li><span class="TLline"><a href="/medgen/478814" ref="tree=MeSH" title="MedGen record for Decreased patellar reflex">Decreased patellar reflex</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
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||
<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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_330449"><div><strong>Desmin-related myofibrillar myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330449</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.">C1832370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB; 123590), dystrophin (300377), and myotilin (TTID; 604103). Genetic Heterogeneity of Myofibrillar Myopathy Other forms of MFM include MFM2 (608810), caused by mutation in the CRYAB gene (123590); MFM3 (609200), caused by mutation in the MYOT gene (604103); MFM4 (609452), caused by mutation in the ZASP gene (LDB3; 605906); MFM5 (609524), caused by mutation in the FLNC gene (102565); MFM6 (612954), caused by mutation in the BAG3 gene (603883); MFM7 (617114), caused by mutation in the KY gene (605739); MFM8 (617258), caused by mutation in the PYROXD1 gene (617220); MFM9 (603689), caused by mutation in the TTN gene (188840); MFM10 (619040), caused by mutation in the SVIL UNC45B gene (611220); MFM11 (619178), caused by mutation in the UNC45B gene (611220); MFM12 (619424), caused by mutation in the MYL2 gene (160781); and MFM13 (621078), caused by mutation in the HSPB8 gene (608014). 'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (602771), caused by mutation in the SEPN1 gene (606210), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330449">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_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."><span class="highlight" style="background-color:">C1850386</span></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_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_462246"><div><strong>Neuropathy, hereditary sensory and autonomic, type 1C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462246</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.">C3150896</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 IC (HSAN1C) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2 and/or pyramidal signs. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic. (summary by Rotthier et al., 2010, Gantner et al., 2019, and Triplett et al., 2019). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits (Fridman et al., 2019). For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/462246">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811509"><div><strong>Myofibrillar myopathy 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811509</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.">C3714934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811509">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816524"><div><strong>Neuropathy, hereditary sensory, type 1F</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816524</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.">C3810194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by Kornak et al., 2014). For a discussion of genetic heterogeneity of HSN, see HSAN1A (162400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816524">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816656"><div><strong>Autosomal recessive spinocerebellar ataxia 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816656</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.">C3810326</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-15 (SCAR15) is characterized by early-onset ataxia, cognitive impairment, dysarthria, and developmental delay. Variable features include seizures, nystagmus, and abnormal reflexes (Seidahmed et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816656">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_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_1648314"><div><strong>Myofibrillar myopathy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648314</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.">C4721886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-4 (MFM4) is an autosomal dominant disorder characterized by adult-onset distal muscle weakness primarily affecting the lower limbs at onset. Affected individuals usually present with gait difficulties in their forties, followed by slow progression with eventual involvement of the hands and proximal muscles of the lower limbs. Rare patients may develop cardiomyopathy. Skeletal muscle biopsy shows myopathic changes with myofibrillar changes (Selcen and Engel, 2005; Griggs et al., 2007). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1669929"><div><strong>Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1669929</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.">C4747715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013). For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1669929">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718899"><div><strong>Combined oxidative phosphorylation deficiency 44</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718899</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.">C5394293</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-44 (COXPD44) is an autosomal recessive mitochondrial disorder with multisystemic manifestations. Most affected individuals present in infancy or early childhood with global developmental delay, hypotonia, and abnormal movements. Most patients develop seizures, often associated with status epilepticus, and some patients may have optic atrophy. One patient with hypertrophic cardiomyopathy has been reported. Serum lactate may be increased, although that finding is inconsistent. Detailed biochemical analysis shows variable combined deficiencies of mitochondrial oxidative complexes that appear to be tissue-specific (summary by Wei et al., 2020). For discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718899">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798944"><div><strong>Myopathy, distal, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798944</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.">C5567521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal myopathy-5 (MPD5) is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by Park et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798944">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_1669929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive spinocerebellar ataxia 15</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 44</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Desmin-related myofibrillar myopathy</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="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<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_811509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, distal, 5</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_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_462246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory and autonomic, type 1C</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuropathy, hereditary sensory, type 1F</a></div></span></div></div>
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</div>
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|
||
<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,
|
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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=(hyporeflexia%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 (7)</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/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/26747704">Diabetes and cervical myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Houten JK,
|
||
Lenart C</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2016 May;27:99-101.
|
||
Epub 2015 Dec 30
|
||
doi: 10.1016/j.jocn.2015.07.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26747704" target="_blank">26747704</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/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=%22Hyporeflexia%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 (140)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/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 class="nl"><a target="_blank" href="/pubmed/26747704">Diabetes and cervical myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Houten JK,
|
||
Lenart C</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2016 May;27:99-101.
|
||
Epub 2015 Dec 30
|
||
doi: 10.1016/j.jocn.2015.07.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26747704" target="_blank">26747704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20396636">Laxative-induced rhabdomyolysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merante A,
|
||
Gareri P,
|
||
Marigliano NM,
|
||
De Fazio S,
|
||
Bonacci E,
|
||
Torchia C,
|
||
Russo G,
|
||
Lacroce P,
|
||
Lacava R,
|
||
Castagna A,
|
||
De Sarro G,
|
||
Ruotolo G</span><br />
|
||
<span class="medgenPMjournal">Clin Interv Aging</span>
|
||
2010 Apr 7;5:71-3.
|
||
doi: 10.2147/cia.s8832.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20396636" target="_blank">20396636</a><a href="/pmc/articles/PMC2854053" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyporeflexia%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 (177)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28667708">Acute painful autoimmune neuropathy: A variant of Guillain-Barré syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuki N,
|
||
Chan AC,
|
||
Wong AHY,
|
||
Inoue T,
|
||
Yokai M,
|
||
Kurihara T,
|
||
Devaux JJ,
|
||
Wilder-Smith E</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2018 Feb;57(2):320-324.
|
||
Epub 2017 Jul 24
|
||
doi: 10.1002/mus.25738.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28667708" target="_blank">28667708</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/23648721">Multifocal conduction block in a patient with sarcoid neuropathy: successful treatment with intravenous immunoglobulin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kono Y,
|
||
Omoto S,
|
||
Sengoku R,
|
||
Yaguchi H,
|
||
Sonoo M,
|
||
Inoue K,
|
||
Mochio S</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2013;52(9):999-1002.
|
||
Epub 2012 Mar 1
|
||
doi: 10.2169/internalmedicine.52.7788.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23648721" target="_blank">23648721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20396636">Laxative-induced rhabdomyolysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merante A,
|
||
Gareri P,
|
||
Marigliano NM,
|
||
De Fazio S,
|
||
Bonacci E,
|
||
Torchia C,
|
||
Russo G,
|
||
Lacroce P,
|
||
Lacava R,
|
||
Castagna A,
|
||
De Sarro G,
|
||
Ruotolo G</span><br />
|
||
<span class="medgenPMjournal">Clin Interv Aging</span>
|
||
2010 Apr 7;5:71-3.
|
||
doi: 10.2147/cia.s8832.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20396636" target="_blank">20396636</a><a href="/pmc/articles/PMC2854053" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyporeflexia%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 (70)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<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 class="nl"><a target="_blank" href="/pubmed/14166528">CEREBRAL SPASTIC PARAPLEGIA AND PREMATURITY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">BERENBERG W,
|
||
ONG BH</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1964 Apr;33:496-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14166528" target="_blank">14166528</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyporeflexia%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 (66)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<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/26747704">Diabetes and cervical myelopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Houten JK,
|
||
Lenart C</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2016 May;27:99-101.
|
||
Epub 2015 Dec 30
|
||
doi: 10.1016/j.jocn.2015.07.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26747704" target="_blank">26747704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3789679">Spastic pure motor monoparesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashizawa T,
|
||
Rolak LA,
|
||
Hines M</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1986 Nov;20(5):638-41.
|
||
doi: 10.1002/ana.410200515.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3789679" target="_blank">3789679</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=%22Hyporeflexia%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 (103)</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>
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<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>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyporeflexia%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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