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<!--
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UID=373028
|
||
ConceptID=C1836150
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Gait imbalance</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373028</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.">C1836150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormality of balance; Abnormality of equilibrium; Imbalanced walk</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:0002141">HP:0002141</a></td></tr>
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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">Gait imbalance</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/272632" ref="tree=MeSH" title="MedGen record for Finding by Site or System">Finding by Site or System</a></span><ul><li><span class="TLline"><a href="/medgen/98386" ref="tree=MeSH" title="MedGen record for Neurological finding">Neurological finding</a></span><ul><li><span class="TLline"><a href="/medgen/66714" ref="tree=MeSH" title="MedGen record for Neurological symptom">Neurological symptom</a></span><ul><li><span class="TLline"><a href="/medgen/233196" ref="tree=MeSH" title="MedGen record for Motor Manifestations">Motor Manifestations</a></span><ul><li><span class="TLline"><a href="/medgen/107895" ref="tree=MeSH" title="MedGen record for Gait disturbance">Gait disturbance</a></span><ul><li><span class="matched_ds">Gait imbalance</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_57837"><div><strong>Benign paroxysmal positional vertigo</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57837</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.">C0155502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Benign recurrent vertigo (BRV), also known as benign paroxysmal positional vertigo (BPPV), is a common disorder affecting up to 2% of the adult population. The majority of individuals with chronic recurrent vertigo have no identifiable cause, no progression of the disorder, and no other neurologic or auditory signs. Many families have multiple affected individuals, suggesting familial transmission of the disorder with moderate to high penetrance (summary by Lee et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57837">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_59799"><div><strong>Williams syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59799</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.">C0175702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth deficiency, endocrine abnormalities (early puberty, hypercalcemia, hypercalciuria, hypothyroidism), and distinctive facies. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. Feeding difficulties often lead to poor weight gain in infancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/59799">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163239"><div><strong>Brown-Vialetto-van Laere syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163239</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.">C0796274</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163239">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324446"><div><strong>Supranuclear palsy, progressive, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324446</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.">C1836148</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/324446">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337969"><div><strong>Parkinsonian-pyramidal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337969</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.">C1850100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337969">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346799"><div><strong>Spinocerebellar ataxia type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346799</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:">C1858351</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features are seen on occasion. Peripheral neuropathy and dystonia are rare. Six families have been reported to date, one each from the UK, Pakistan, France, Germany, Denmark, and China. Age of onset ranged from early childhood to the mid-40s. Life span is thought to be normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346799">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_422452"><div><strong>Bardet-Biedl syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422452</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.">C2936862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21. The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/422452">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903767"><div><strong>Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903767</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.">C4225396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903767">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895979"><div><strong>Intellectual disability, X-linked, syndromic 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895979</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.">C4225418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895979">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934655"><div><strong>Sifrim-Hitz-Weiss syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934655</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.">C4310688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHD4 neurodevelopmental disorder (CHD4-NDD) is associated with developmental delay, speech delay, and usually mild-to-moderate intellectual disability. Variability between individuals with CHD4-NDD is significant, and a few have normal intelligence. Other manifestations can include brain anomalies, heart defects, and skeletal abnormalities; less common features are hypogonadism in males, hearing impairment, and ophthalmic abnormalities. Most affected individuals have mild nonspecific dysmorphic facial features with or without macrocephaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934655">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1640811"><div><strong>Supranuclear palsy, progressive, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640811</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.">C4551863</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1640811">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648278"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648278</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.">C4746984</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/1648278">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648429"><div><strong>Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648429</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.">C4748269</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/1648429">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1672866"><div><strong>Spinocerebellar ataxia, autosomal recessive 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1672866</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.">C5193058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. Brain imaging shows cerebellar atrophy (summary by Eidhof et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1672866">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778557"><div><strong>Radio-Tartaglia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778557</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.">C5543339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Radio-Tartaglia syndrome (RATARS) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome (607872) (summary by Radio et al., 2021).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1778557">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794242"><div><strong>Hengel-Maroofian-Schols syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794242</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.">C5562032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, pyramidal signs manifest as lower limb spasticity, poor overall growth often with short stature and microcephaly, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy (Hengel et al., 2021).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794242">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1798906"><div><strong>Autosomal recessive spastic paraplegia type 76</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798906</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.">C5567483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-76 is an autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. Cognition is unaffected (summary by Gan-Or et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1798906">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive spastic paraplegia type 76</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_57837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Benign paroxysmal positional vertigo</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163239" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brown-Vialetto-van Laere syndrome 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794242" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hengel-Maroofian-Schols syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked, syndromic 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 12</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonian-pyramidal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radio-Tartaglia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sifrim-Hitz-Weiss syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia type 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1672866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinocerebellar ataxia, autosomal recessive 27</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1640811" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supranuclear palsy, progressive, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324446" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supranuclear palsy, progressive, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Williams syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/33940977">CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Costales M,
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Casanueva R,
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Suárez V,
|
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Asensi JM,
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Cifuentes GA,
|
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Diñeiro M,
|
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Cadiñanos J,
|
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López F,
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Álvarez-Marcos C,
|
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Otero A,
|
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Gómez J,
|
||
Llorente JL,
|
||
Cabanillas R</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2022 Jan;166(1):74-79.
|
||
Epub 2021 May 4
|
||
doi: 10.1177/01945998211008398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33940977" target="_blank">33940977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34304897">Vestibular Physical Therapy and Fall Risk Assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carender WJ,
|
||
Grzesiak M,
|
||
Telian SA</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2021 Oct;54(5):1015-1036.
|
||
Epub 2021 Jul 23
|
||
doi: 10.1016/j.otc.2021.05.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34304897" target="_blank">34304897</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30636594">Advantages of Vasoactive Intestinal Peptide for the Future Treatment of Parkinson's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korkmaz OT,
|
||
Tunçel N</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2018;24(39):4693-4701.
|
||
doi: 10.2174/1381612825666190111150953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30636594" target="_blank">30636594</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22gait%20imbalance%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (4)</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/38705270">Exoscopic Retrosigmoid Approach for an Anteromedial Tentorial Meningioma: 2D Operative Video.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel AA,
|
||
Júnior de Andrade E,
|
||
Srivatsa S,
|
||
Recinos PF</span><br />
|
||
<span class="medgenPMjournal">World Neurosurg</span>
|
||
2024 Aug;188:23.
|
||
Epub 2024 May 4
|
||
doi: 10.1016/j.wneu.2024.04.161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38705270" target="_blank">38705270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37539721">Focused Ultrasound Thalamotomy for Tremor in Parkinson's Disease: Outcomes in a Large, Prospective Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chua MMJ,
|
||
Blitz SE,
|
||
Ng PR,
|
||
Segar DJ,
|
||
McDannold NJ,
|
||
White PJ,
|
||
Christie S,
|
||
Hayes MT,
|
||
Rolston JD,
|
||
Cosgrove GR</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 Oct;38(10):1962-1967.
|
||
Epub 2023 Aug 4
|
||
doi: 10.1002/mds.29569.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37539721" target="_blank">37539721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33940977">CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Costales M,
|
||
Casanueva R,
|
||
Suárez V,
|
||
Asensi JM,
|
||
Cifuentes GA,
|
||
Diñeiro M,
|
||
Cadiñanos J,
|
||
López F,
|
||
Álvarez-Marcos C,
|
||
Otero A,
|
||
Gómez J,
|
||
Llorente JL,
|
||
Cabanillas R</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2022 Jan;166(1):74-79.
|
||
Epub 2021 May 4
|
||
doi: 10.1177/01945998211008398.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33940977" target="_blank">33940977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27525281">Postural Control and Gait Performance in the Diabetic Peripheral Neuropathy: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mustapa A,
|
||
Justine M,
|
||
Mohd Mustafah N,
|
||
Jamil N,
|
||
Manaf H</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2016;2016:9305025.
|
||
Epub 2016 Jul 20
|
||
doi: 10.1155/2016/9305025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27525281" target="_blank">27525281</a><a href="/pmc/articles/PMC4971307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22834972">Unusual complications of a benign tumour - our experience with midline posterior fossa epidermoids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raghunath A,
|
||
Devi BI,
|
||
Bhat DI,
|
||
Somanna S</span><br />
|
||
<span class="medgenPMjournal">Br J Neurosurg</span>
|
||
2013 Feb;27(1):69-73.
|
||
Epub 2012 Jul 27
|
||
doi: 10.3109/02688697.2012.703352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22834972" target="_blank">22834972</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gait%20imbalance%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 (41)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34689848">Degenerative Cervical Myelopathy: Towards a Personalized Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hejrati N,
|
||
Moghaddamjou A,
|
||
Marathe N,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2022 Nov;49(6):729-740.
|
||
Epub 2021 Oct 25
|
||
doi: 10.1017/cjn.2021.214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34689848" target="_blank">34689848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32846066">Case 27-2020: A 53-Year-Old Woman with Headache and Gait Imbalance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gottlieb GS,
|
||
Rosenberg JM,
|
||
Gonzalez RG,
|
||
Gandhi RT</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Aug 27;383(9):859-866.
|
||
doi: 10.1056/NEJMcpc1913472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32846066" target="_blank">32846066</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32107324">Clinical Reasoning: A 42-year-old woman with progressive cognitive difficulties and gait imbalance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slama MCC,
|
||
Torre M,
|
||
Shatzman SM,
|
||
Suh J,
|
||
Krier JB,
|
||
De Girolami U,
|
||
Kimbrough DJ,
|
||
Milligan TA</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Mar 17;94(11):e1219-e1226.
|
||
Epub 2020 Feb 27
|
||
doi: 10.1212/WNL.0000000000009099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32107324" target="_blank">32107324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24834883">CT findings in temporal bone osteoradionecrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmed S,
|
||
Gupta N,
|
||
Hamilton JD,
|
||
Garden AS,
|
||
Gidley PW,
|
||
Ginsberg LE</span><br />
|
||
<span class="medgenPMjournal">J Comput Assist Tomogr</span>
|
||
2014 Sep-Oct;38(5):662-6.
|
||
doi: 10.1097/RCT.0000000000000096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24834883" target="_blank">24834883</a><a href="/pmc/articles/PMC4186743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23648600">Inner ear disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smouha E</span><br />
|
||
<span class="medgenPMjournal">NeuroRehabilitation</span>
|
||
2013;32(3):455-62.
|
||
doi: 10.3233/NRE-130868.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23648600" target="_blank">23648600</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gait%20imbalance%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 (83)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37055710">Fampridine for gait imbalance in patients with multiple sclerosis (MS): a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghorbanpour S,
|
||
Rahimibarghani S,
|
||
Rohani S,
|
||
Rastkar M,
|
||
Ghajarzadeh M</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Sep;44(9):3059-3069.
|
||
Epub 2023 Apr 14
|
||
doi: 10.1007/s10072-023-06795-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37055710" target="_blank">37055710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32846066">Case 27-2020: A 53-Year-Old Woman with Headache and Gait Imbalance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gottlieb GS,
|
||
Rosenberg JM,
|
||
Gonzalez RG,
|
||
Gandhi RT</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Aug 27;383(9):859-866.
|
||
doi: 10.1056/NEJMcpc1913472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32846066" target="_blank">32846066</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30636594">Advantages of Vasoactive Intestinal Peptide for the Future Treatment of Parkinson's Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korkmaz OT,
|
||
Tunçel N</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2018;24(39):4693-4701.
|
||
doi: 10.2174/1381612825666190111150953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30636594" target="_blank">30636594</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30290952">A 26-Year-Old Man With a Pleural Effusion and Headache.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kierstead P,
|
||
Lanks C</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2018 Oct;154(4):e113-e117.
|
||
doi: 10.1016/j.chest.2018.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30290952" target="_blank">30290952</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29237663">Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh R,
|
||
Choudhary A,
|
||
Kumar AS,
|
||
Goyal MK</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2017 Dec 13;2017
|
||
doi: 10.1136/bcr-2017-222304.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29237663" target="_blank">29237663</a><a href="/pmc/articles/PMC5728210" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gait%20imbalance%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 (37)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38990511">Systematic Review and Meta-Analysis of the Diagnostic Accuracy of a Graded Gait and Truncal Instability Rating in Acutely Dizzy and Ataxic Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez C,
|
||
Wang Z,
|
||
Zalazar G,
|
||
Carmona S,
|
||
Kattah J,
|
||
Tarnutzer AA</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Dec;23(6):2244-2256.
|
||
Epub 2024 Jul 11
|
||
doi: 10.1007/s12311-024-01718-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38990511" target="_blank">38990511</a><a href="/pmc/articles/PMC11585515" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29607688">Posterior fossa metastasis of lung carcinoid tumor: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reinas R,
|
||
Santos RB,
|
||
Kitumba D,
|
||
Furtado A,
|
||
Alves ÓL,
|
||
Resende M</span><br />
|
||
<span class="medgenPMjournal">Br J Neurosurg</span>
|
||
2021 Jun;35(3):364-366.
|
||
Epub 2018 Apr 2
|
||
doi: 10.1080/02688697.2018.1457774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29607688" target="_blank">29607688</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24325990">Hypothyroidism and reversible kidney dysfunction: an essential relationship to recognize.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Ters M,
|
||
Patel SM,
|
||
Norby SM</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2014 May;20(5):490-9.
|
||
doi: 10.4158/EP12084.RA.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24325990" target="_blank">24325990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22834972">Unusual complications of a benign tumour - our experience with midline posterior fossa epidermoids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raghunath A,
|
||
Devi BI,
|
||
Bhat DI,
|
||
Somanna S</span><br />
|
||
<span class="medgenPMjournal">Br J Neurosurg</span>
|
||
2013 Feb;27(1):69-73.
|
||
Epub 2012 Jul 27
|
||
doi: 10.3109/02688697.2012.703352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22834972" target="_blank">22834972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18846412">Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carrillo F,
|
||
Schneider SA,
|
||
Taylor AM,
|
||
Srinivasan V,
|
||
Kapoor R,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2009 Mar;8(1):22-7.
|
||
doi: 10.1007/s12311-008-0055-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18846412" target="_blank">18846412</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gait%20imbalance%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 (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37055710">Fampridine for gait imbalance in patients with multiple sclerosis (MS): a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghorbanpour S,
|
||
Rahimibarghani S,
|
||
Rohani S,
|
||
Rastkar M,
|
||
Ghajarzadeh M</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Sep;44(9):3059-3069.
|
||
Epub 2023 Apr 14
|
||
doi: 10.1007/s10072-023-06795-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37055710" target="_blank">37055710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35918170">Clinical Reasoning: A 60-Year-Old Man With Ataxia, Chorea, and Mild Cognitive Impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sugiyama A,
|
||
Nishigori C,
|
||
Tsujimoto M,
|
||
Togawa Y,
|
||
Kuwabara S</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Oct 4;99(14):618-624.
|
||
Epub 2022 Aug 2
|
||
doi: 10.1212/WNL.0000000000201065.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35918170" target="_blank">35918170</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34734345">Pure sensitive chronic inflammatory axonal polyneuropathy following Pfizer COVID-19 vaccine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luca A,
|
||
Squillaci R,
|
||
Terravecchia C,
|
||
Contrafatto F,
|
||
Reggio E,
|
||
Nicoletti A,
|
||
Zappia M</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Feb;43(2):1431-1433.
|
||
Epub 2021 Nov 4
|
||
doi: 10.1007/s10072-021-05696-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34734345" target="_blank">34734345</a><a href="/pmc/articles/PMC8566116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33615556">Make a Left Turn: Cortico-Striatal Circuitry Mediating the Attentional Control of Complex Movements.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarter M,
|
||
Avila C,
|
||
Kucinski A,
|
||
Donovan E</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2021 Mar;36(3):535-546.
|
||
Epub 2021 Feb 22
|
||
doi: 10.1002/mds.28532.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33615556" target="_blank">33615556</a><a href="/pmc/articles/PMC8938956" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/22834972">Unusual complications of a benign tumour - our experience with midline posterior fossa epidermoids.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raghunath A,
|
||
Devi BI,
|
||
Bhat DI,
|
||
Somanna S</span><br />
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||
<span class="medgenPMjournal">Br J Neurosurg</span>
|
||
2013 Feb;27(1):69-73.
|
||
Epub 2012 Jul 27
|
||
doi: 10.3109/02688697.2012.703352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22834972" target="_blank">22834972</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Gait%20imbalance%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 (27)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38990511">Systematic Review and Meta-Analysis of the Diagnostic Accuracy of a Graded Gait and Truncal Instability Rating in Acutely Dizzy and Ataxic Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez C,
|
||
Wang Z,
|
||
Zalazar G,
|
||
Carmona S,
|
||
Kattah J,
|
||
Tarnutzer AA</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Dec;23(6):2244-2256.
|
||
Epub 2024 Jul 11
|
||
doi: 10.1007/s12311-024-01718-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38990511" target="_blank">38990511</a><a href="/pmc/articles/PMC11585515" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38214833">Patient-Related Outcome Measures for Oculomotor Symptoms in the Cerebellar Ataxias: Insights from Non-Cerebellar Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Szmulewicz DJ,
|
||
Galli R,
|
||
Tarnutzer AA</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Aug;23(4):1435-1448.
|
||
Epub 2024 Jan 12
|
||
doi: 10.1007/s12311-024-01656-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38214833" target="_blank">38214833</a><a href="/pmc/articles/PMC11269357" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37055710">Fampridine for gait imbalance in patients with multiple sclerosis (MS): a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ghorbanpour S,
|
||
Rahimibarghani S,
|
||
Rohani S,
|
||
Rastkar M,
|
||
Ghajarzadeh M</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2023 Sep;44(9):3059-3069.
|
||
Epub 2023 Apr 14
|
||
doi: 10.1007/s10072-023-06795-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37055710" target="_blank">37055710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27525281">Postural Control and Gait Performance in the Diabetic Peripheral Neuropathy: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mustapa A,
|
||
Justine M,
|
||
Mohd Mustafah N,
|
||
Jamil N,
|
||
Manaf H</span><br />
|
||
<span class="medgenPMjournal">Biomed Res Int</span>
|
||
2016;2016:9305025.
|
||
Epub 2016 Jul 20
|
||
doi: 10.1155/2016/9305025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27525281" target="_blank">27525281</a><a href="/pmc/articles/PMC4971307" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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