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<meta name="keywords" content="C1740801, exaggerated acoustic startle response, exaggerated startle response, finding, hyperekplexia, increased startle response, 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="An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=329357
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ConceptID=C1740801
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Exaggerated startle response</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>329357</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:">C1740801</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Exaggerated acoustic startle response; Hyperekplexia; Increased startle response</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:0002267">HP:0002267</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Exaggerated startle response</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868940" ref="tree=MeSH" title="MedGen record for Abnormal central motor function">Abnormal central motor function</a></span><ul><li><span class="TLline"><a href="/medgen/115941" ref="tree=MeSH" title="MedGen record for Abnormality of extrapyramidal motor function">Abnormality of extrapyramidal motor function</a></span><ul><li><span class="matched_ds">Exaggerated startle response</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_11313"><div><strong>Sandhoff disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11313</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.">C0036161</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sandhoff disease comprises a phenotypic continuum encompassing acute infantile, subacute juvenile, and late-onset disease. Although classification into these phenotypes is somewhat arbitrary, it is helpful in understanding the variation observed in the timing of disease onset, presenting manifestations, rate of progression, and life span. Acute infantile Sandhoff disease (onset age <6 months). Infants are generally normal at birth followed by progressive weakness and slowing of developmental progress, then developmental regression and severe neurologic impairment. Seizures are common. Death usually occurs between ages two and three years. Subacute juvenile Sandhoff disease (onset age 2-5 years). After attaining normal developmental milestones, developmental progress slows, followed by developmental regression and neurologic impairment (abnormal gait, dysarthria, and cognitive decline). Death (usually from aspiration) typically occurs in the early to late teens. Late-onset Sandhoff disease (onset older teen years or young adulthood). Nearly normal psychomotor development is followed by a range of neurologic findings (e.g., weakness, spasticity, dysarthria, and deficits in cerebellar function) and psychiatric findings (e.g., deficits in executive function and memory). Life expectancy is not necessarily decreased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11313">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_11713"><div><strong>Tay-Sachs disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11713</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.">C0039373</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. HEX A is necessary for degradation of GM2 ganglioside; without well-functioning enzymes, GM2 ganglioside builds up in the lysosomes of brain and nerve cells. The classic clinical phenotype is known as Tay-Sachs disease (TSD), characterized by progressive weakness, loss of motor skills beginning between ages three and six months, decreased visual attentiveness, and increased or exaggerated startle response with a cherry-red spot observable on the retina followed by developmental plateau and loss of skills after eight to ten months. Seizures are common by 12 months with further deterioration in the second year of life and death occurring between ages two and three years with some survival to five to seven years. Subacute juvenile TSD is associated with normal developmental milestones until age two years, when the emergence of abnormal gait or dysarthria is noted followed by loss of previously acquired skills and cognitive decline. Spasticity, dysphagia, and seizures are present by the end of the first decade of life, with death within the second decade of life, usually by aspiration. Late-onset TSD presents in older teens or young adults with a slowly progressive spectrum of neurologic symptoms including lower-extremity weakness with muscle atrophy, dysarthria, incoordination, tremor, mild spasticity and/or dystonia, and psychiatric manifestations including acute psychosis. Clinical variability even among affected members of the same family is observed in both the subacute juvenile and the late-onset TSD phenotypes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11713">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39017"><div><strong>Stiff-man syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39017</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.">C0085292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39017">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78657"><div><strong>Tay-Sachs disease, variant AB</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78657</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.">C0268275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78657">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140820"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140820</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.">C0410174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy with poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140820">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_220945"><div><strong>Deficiency of aromatic-L-amino-acid decarboxylase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220945</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.">C1291564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with aromatic L-amino acid decarboxylase (AADC) deficiency typically have complex symptoms, including motor, behavioral, cognitive, and autonomic findings. Symptom onset is in early infancy, typically within the first six months of life. The most common initial symptoms are often nonspecific, and include feeding difficulties, hypotonia, and developmental delay. More specific symptoms include oculogyric crises (which occur in the vast majority of affected individuals, typically starting in infancy), movement disorders (especially dystonia), and autonomic dysfunction (excessive sweating, temperature instability, ptosis, nasal congestion, hypoglycemic episodes). Sleep disturbance is present in a majority of affected individuals and can include insomnia, hypersomnia, or both. Mood disturbance, including irritability and anxiety, are also common. Brain MRI is typically either normal or may demonstrate nonspecific abnormalities, such as mild diffuse cerebral atrophy or delayed myelination. Seizures are an uncommon finding, occurring in fewer than 5% of affected individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324411"><div><strong>Spastic paraplegia, optic atropy, and neuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324411</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive spastic paraplegia resulting in loss of independent ambulation in the teenage years. Additional features include optic atrophy, later onset of sensorimotor peripheral neuropathy, and progressive joint contractures; cognition remains intact (summary by Melo et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324411">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332428"><div><strong>Sudden infant death-dysgenesis of the testes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332428</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.">C1837371</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is characterized by sudden cardiac or respiratory arrest, disordered testicular development, and neurologic dysfunction, and is uniformly fatal before 1 year of age (Slater et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332428">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_375581"><div><strong>Developmental and epileptic encephalopathy, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375581</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.">C1845102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-8 (DEE8) is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011). For general phenotypic descriptions and discussions of genetic heterogeneity of developmental and epileptic encephalopathy and hyperekplexia, see DEE1 (308350) and HKPX1 (149400), respectively.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375581">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</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.">C3275508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766202"><div><strong>Hyperekplexia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766202</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.">C3553288</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year.\n\nThe signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, individuals with this condition may have a low tolerance for crowded places and loud noises. People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.\n\nOther signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).\n\nHereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766202">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766205"><div><strong>Hyperekplexia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766205</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.">C3553291</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.\n\nOther signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).\n\nThe signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, individuals with this condition may have a low tolerance for crowded places and loud noises. People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.\n\nHereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766205">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816301"><div><strong>Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816301</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.">C3809971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. In most cases age of onset of apnea, excessive irritability, and seizures is soon after birth. Affected individuals typically do not acquire any developmental milestones. Spastic quadriplegia can lead to severe contractures of the limbs and neurogenic scoliosis. Feeding difficulties (gastroesophageal reflux disease, frequent vomiting, swallowing dysfunction, and gastroesophageal incoordination) are a significant problem in most affected individuals. A majority have cortical blindness. MRI findings are nonspecific but may include generalized atrophy and simplified gyral pattern.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816301">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_896545"><div><strong>Hypomyelinating leukodystrophy 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896545</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.">C4225170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypomyelinating leukodystrophy-13 (HLD13) is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/896545">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934602"><div><strong>Developmental and epileptic encephalopathy, 49</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934602</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.">C4310635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-49 (DEE49) is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934602">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934722"><div><strong>Intellectual disability, autosomal recessive 54</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934722</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.">C4310755</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MRT54 is an autosomal recessive disorder characterized by nonsyndromic impaired intellectual development (Anazi et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934722">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934910"><div><strong>Atypical glycine encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934910</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.">C4310943</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GLYT1 encephalopathy is characterized in neonates by severe hypotonia, respiratory failure requiring mechanical ventilation, and absent neonatal reflexes; encephalopathy, including impaired consciousness and unresponsiveness, may be present. Arthrogryposis or joint laxity can be observed. Generalized hypotonia develops later into axial hypotonia with limb hypertonicity and a startle-like response to vocal and visual stimuli which should not be confused with seizures. To date, three of the six affected children reported from three families died between ages two days and seven months; the oldest reported living child is severely globally impaired at age three years. Because of the limited number of affected individuals reported to date, the phenotype has not yet been completely described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934910">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1380260"><div><strong>Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1380260</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.">C4479631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profoundly impaired intellectual development and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1380260">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647581"><div><strong>Hyperekplexia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647581</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.">C4551954</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by Ryan et al., 1992). Genetic Heterogeneity of Hyperekplexia See also HKPX2 (614619), caused by mutation in the GLRB gene (138492) on chromosome 4q31; HKPX3 (614618), caused by mutation in the GLYT2 gene (SLC6A5; 604159) on chromosome 11p15; and HKPX4 (618011), caused by mutation in the ATAD1 gene (614452) on chromosome 10q23. Hyperekplexia can also occur in developmental and epileptic encephalopathy-8 (DEE8; 300607), caused by mutation in the ARHGEF9 gene (300429). See also sporadic stiff-man syndrome (184850) and the 'Jumping Frenchmen of Maine' (244100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647581">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645968"><div><strong>Neurodevelopmental disorder with or without seizures and gait abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645968</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.">C4693391</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variably impaired intellectual development that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by Martin et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645968">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648373"><div><strong>Neurodevelopmental disorder with cerebellar atrophy and with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648373</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.">C4748032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) is an autosomal recessive disorder characterized by intellectual disability associated with ataxia (summary by Engel et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648373">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648479"><div><strong>Developmental and epileptic encephalopathy, 68</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648479</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.">C4748688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-68 (DEE68) is an autosomal recessive neurologic disorder characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus. Brain imaging may show cortical atrophy (summary by Barel et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684142"><div><strong>Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684142</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.">C5193057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (NEDMEHM) is an autosomal recessive neurometabolic disorder characterized by these cardinal features. Patients also show an exaggerated startle reflex in early infancy (Rodan et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684731"><div><strong>Spastic tetraplegia and axial hypotonia, progressive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684731</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.">C5231422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive spastic tetraplegia and axial hypotonia (STAHP) is an autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected, but only 2 unrelated patients have been reported (Andersen et al., 2019; Park et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684731">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794194"><div><strong>Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794194</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.">C5561984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794194">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824025"><div><strong>Neurodevelopmental disorder with speech impairment and with or without seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824025</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.">C5774252</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) is a phenotypically heterogeneous neurologic disorder whose severity appears to depend on the functional effect of the CACNA1I mutation. Severely affected individuals present in infancy with profound global developmental delay, hypotonia, delayed or absent walking, absent speech, feeding difficulties, cortical visual impairment, and onset of hyperexcitability and seizures in the first months or years of life. They achieve little or no developmental progress and may be tube-fed. Mutations in these individuals occurred de novo. In contrast, a milder phenotype associated with an inherited mutation has been found in a family with mild to moderate cognitive impairment and mild speech delay, usually without seizures (El Ghaleb et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824025">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841069"><div><strong>Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841069</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.">C5830433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) is a severe autosomal recessive disorder characterized by onset of these features in infancy. Affected individuals present with respiratory failure requiring intubation soon after birth; some die due to cardiorespiratory insufficiency. Those that survive show severe global developmental delay, refractory myoclonic seizures, hyperkinetic movements with exaggerated startle response, and microcephaly with dysmorphic features. Additional findings may include sensorineural hearing loss and ocular defects. Brain imaging shows variable abnormalities consistent with progressive neurodegeneration (Cali et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841069">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841222"><div><strong>Multiple mitochondrial dysfunctions syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841222</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.">C5830586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial dysfunctions syndrome-7 (MMDS7) is an autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems (Arribas-Carreira et al., 2023). For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841222">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841277"><div><strong>Combined oxidative phosphorylation deficiency 58</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841277</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.">C5830641</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-58 (COXPD58) is an autosomal recessive disorder characterized by a wide range of clinical presentations including neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with nonspecific changes on brain MRI, or mitochondrial myopathy with a treatable neuromuscular transmission defect (Van Haute et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841277">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845761"><div><strong>Neurodegeneration with brain iron accumulation 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845761</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.">C5882740</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodegeneration with brain iron accumulation-9 (NBIA9) is characterized by global developmental delay apparent from infancy and progressive neurodegeneration of motor and cognitive skills. Affected individuals have delayed walking or inability to walk, spasticity with hyperreflexia, ataxia, dystonia, and poor or absent language. Additional more variable features include dysphagia, failure to thrive, poor growth, microcephaly, hypotonia, impaired vision, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, iron accumulation in the basal ganglia, thin corpus callosum, and pontocerebellar hypoplasia. The disorder can be classified as a neuroferritinopathy (see NBIA3, 606159) (Shieh et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845761">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atypical glycine encephalopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 58</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816301" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of aromatic-L-amino-acid decarboxylase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934602" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 49</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (30)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 68</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperekplexia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperekplexia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperekplexia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypomyelinating leukodystrophy 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal recessive 54</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple mitochondrial dysfunctions syndrome 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845761" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with brain iron accumulation 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with cerebellar atrophy and with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with or without seizures and gait abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1380260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with speech impairment and with or without seizures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11313" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sandhoff disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324411" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia, optic atropy, and neuropathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684731" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraplegia and axial hypotonia, progressive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stiff-man syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden infant death-dysgenesis of the testes syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_11713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tay-Sachs disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tay-Sachs disease, variant AB</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29886306">A network analysis of DSM-5 posttraumatic stress disorder and functional impairment in UK treatment-seeking veterans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ross J,
|
||
Murphy D,
|
||
Armour C</span><br />
|
||
<span class="medgenPMjournal">J Anxiety Disord</span>
|
||
2018 Jun;57:7-15.
|
||
Epub 2018 May 28
|
||
doi: 10.1016/j.janxdis.2018.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29886306" target="_blank">29886306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29097605">PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reijnders MRF,
|
||
Janowski R,
|
||
Alvi M,
|
||
Self JE,
|
||
van Essen TJ,
|
||
Vreeburg M,
|
||
Rouhl RPW,
|
||
Stevens SJC,
|
||
Stegmann APA,
|
||
Schieving J,
|
||
Pfundt R,
|
||
van Dijk K,
|
||
Smeets E,
|
||
Stumpel CTRM,
|
||
Bok LA,
|
||
Cobben JM,
|
||
Engelen M,
|
||
Mansour S,
|
||
Whiteford M,
|
||
Chandler KE,
|
||
Douzgou S,
|
||
Cooper NS,
|
||
Tan EC,
|
||
Foo R,
|
||
Lai AHM,
|
||
Rankin J,
|
||
Green A,
|
||
Lönnqvist T,
|
||
Isohanni P,
|
||
Williams S,
|
||
Ruhoy I,
|
||
Carvalho KS,
|
||
Dowling JJ,
|
||
Lev DL,
|
||
Sterbova K,
|
||
Lassuthova P,
|
||
Neupauerová J,
|
||
Waugh JL,
|
||
Keros S,
|
||
Clayton-Smith J,
|
||
Smithson SF,
|
||
Brunner HG,
|
||
van Hoeckel C,
|
||
Anderson M,
|
||
Clowes VE,
|
||
Siu VM,
|
||
Ddd Study T,
|
||
Selber P,
|
||
Leventer RJ,
|
||
Nellaker C,
|
||
Niessing D,
|
||
Hunt D,
|
||
Baralle D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2018 Feb;55(2):104-113.
|
||
Epub 2017 Nov 2
|
||
doi: 10.1136/jmedgenet-2017-104946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29097605" target="_blank">29097605</a><a href="/pmc/articles/PMC5800346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22exaggerated%20startle%20response%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 (2)</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/39051604">Hyperekplexia: A Single-Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolu MH,
|
||
Öz Tunçer G,
|
||
Akça Ü,
|
||
Aydın S,
|
||
Bahadir O,
|
||
Sezer Ö,
|
||
Aksoy A,
|
||
Taşdemir HA</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2024 Jun;39(7-8):260-267.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1177/08830738241263243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39051604" target="_blank">39051604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35255016">Anesthetic Management of an Adult With Hyperekplexia Undergoing a Laparoscopic Colectomy: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang BA,
|
||
Bernstein KR</span><br />
|
||
<span class="medgenPMjournal">A A Pract</span>
|
||
2022 Mar 2;16(3):e01571.
|
||
doi: 10.1213/XAA.0000000000001571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35255016" target="_blank">35255016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34379238">Advances in hyperekplexia and other startle syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhan FX,
|
||
Wang SG,
|
||
Cao L</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2021 Oct;42(10):4095-4107.
|
||
Epub 2021 Aug 11
|
||
doi: 10.1007/s10072-021-05493-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34379238" target="_blank">34379238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29151096">Jumping Frenchmen, Miryachit, and Latah: Culture-Specific Hyperstartle-Plus Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lanska DJ</span><br />
|
||
<span class="medgenPMjournal">Front Neurol Neurosci</span>
|
||
2018;42:122-131.
|
||
Epub 2017 Nov 17
|
||
doi: 10.1159/000475700.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29151096" target="_blank">29151096</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622392">Gangliosidoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson MC</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1707-8.
|
||
doi: 10.1016/B978-0-444-59565-2.00039-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622392" target="_blank">23622392</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exaggerated%20startle%20response%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 (35)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39051604">Hyperekplexia: A Single-Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolu MH,
|
||
Öz Tunçer G,
|
||
Akça Ü,
|
||
Aydın S,
|
||
Bahadir O,
|
||
Sezer Ö,
|
||
Aksoy A,
|
||
Taşdemir HA</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2024 Jun;39(7-8):260-267.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1177/08830738241263243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39051604" target="_blank">39051604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34266921">Teaching Video NeuroImage: Hereditary Hyperekplexia Mimicking Tonic Seizures in an Infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neupert DG,
|
||
Rathke KM,
|
||
Mikati MA</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Nov 30;97(22):e2248-e2249.
|
||
Epub 2021 Jul 15
|
||
doi: 10.1212/WNL.0000000000012538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34266921" target="_blank">34266921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32439821">Generalized myoclonus in COVID-19.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rábano-Suárez P,
|
||
Bermejo-Guerrero L,
|
||
Méndez-Guerrero A,
|
||
Parra-Serrano J,
|
||
Toledo-Alfocea D,
|
||
Sánchez-Tejerina D,
|
||
Santos-Fernández T,
|
||
Folgueira-López MD,
|
||
Gutiérrez-Gutiérrez J,
|
||
Ayuso-García B,
|
||
González de la Aleja J,
|
||
Benito-León J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Aug 11;95(6):e767-e772.
|
||
Epub 2020 May 21
|
||
doi: 10.1212/WNL.0000000000009829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32439821" target="_blank">32439821</a><a href="/pmc/articles/PMC7455360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622392">Gangliosidoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patterson MC</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1707-8.
|
||
doi: 10.1016/B978-0-444-59565-2.00039-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622392" target="_blank">23622392</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2207812">Symptom differences in acute and chronic presentation of childhood post-traumatic stress disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Famularo R,
|
||
Kinscherff R,
|
||
Fenton T</span><br />
|
||
<span class="medgenPMjournal">Child Abuse Negl</span>
|
||
1990;14(3):439-44.
|
||
doi: 10.1016/0145-2134(90)90015-l.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2207812" target="_blank">2207812</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exaggerated%20startle%20response%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 (48)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39998694">Upper motor neuron-predominant motor neuron disease: a novel immunotherapy-responsive association of GAD65 autoimmunity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paramasivan NK,
|
||
Sarker P,
|
||
Zekeridou A,
|
||
Staff NP,
|
||
Klein CJ,
|
||
McKeon A,
|
||
Pittock SJ,
|
||
Dubey D</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2025 Feb 25;272(3):230.
|
||
doi: 10.1007/s00415-025-12968-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39998694" target="_blank">39998694</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38104462">The associations of hair cortisol and DHEA with posttraumatic stress disorder symptoms in refugees.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Graaff AM,
|
||
Cuijpers P,
|
||
Boschloo L,
|
||
Elsawy M,
|
||
Hunaidy S,
|
||
Seedat S,
|
||
Witteveen AB,
|
||
Huizink AC,
|
||
Sijbrandij M;
|
||
STRENGTHS consortium</span><br />
|
||
<span class="medgenPMjournal">Compr Psychiatry</span>
|
||
2024 Feb;129:152438.
|
||
Epub 2023 Nov 22
|
||
doi: 10.1016/j.comppsych.2023.152438.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38104462" target="_blank">38104462</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32439821">Generalized myoclonus in COVID-19.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rábano-Suárez P,
|
||
Bermejo-Guerrero L,
|
||
Méndez-Guerrero A,
|
||
Parra-Serrano J,
|
||
Toledo-Alfocea D,
|
||
Sánchez-Tejerina D,
|
||
Santos-Fernández T,
|
||
Folgueira-López MD,
|
||
Gutiérrez-Gutiérrez J,
|
||
Ayuso-García B,
|
||
González de la Aleja J,
|
||
Benito-León J</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2020 Aug 11;95(6):e767-e772.
|
||
Epub 2020 May 21
|
||
doi: 10.1212/WNL.0000000000009829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32439821" target="_blank">32439821</a><a href="/pmc/articles/PMC7455360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27939701">Anger and aggression problems in veterans are associated with an increased acoustic startle reflex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heesink L,
|
||
Kleber R,
|
||
Häfner M,
|
||
van Bedaf L,
|
||
Eekhout I,
|
||
Geuze E</span><br />
|
||
<span class="medgenPMjournal">Biol Psychol</span>
|
||
2017 Feb;123:119-125.
|
||
Epub 2016 Dec 8
|
||
doi: 10.1016/j.biopsycho.2016.12.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27939701" target="_blank">27939701</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22775129">Startle response and anxiety sensitivity: subcortical indices of physiologic arousal and fear responding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McMillan KA,
|
||
Asmundson GJ,
|
||
Zvolensky MJ,
|
||
Carleton RN</span><br />
|
||
<span class="medgenPMjournal">Emotion</span>
|
||
2012 Dec;12(6):1264-72.
|
||
Epub 2012 Jul 9
|
||
doi: 10.1037/a0029108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22775129" target="_blank">22775129</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exaggerated%20startle%20response%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39051604">Hyperekplexia: A Single-Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolu MH,
|
||
Öz Tunçer G,
|
||
Akça Ü,
|
||
Aydın S,
|
||
Bahadir O,
|
||
Sezer Ö,
|
||
Aksoy A,
|
||
Taşdemir HA</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2024 Jun;39(7-8):260-267.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1177/08830738241263243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39051604" target="_blank">39051604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37910159">Effects of Bullying on Anxiety, Depression, and Posttraumatic Stress Disorder Among Sexual Minority Youths: Network Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
Jin Y,
|
||
Xu S,
|
||
Wilson A,
|
||
Chen C,
|
||
Luo X,
|
||
Liu Y,
|
||
Ling X,
|
||
Sun X,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">JMIR Public Health Surveill</span>
|
||
2023 Nov 1;9:e47233.
|
||
doi: 10.2196/47233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37910159" target="_blank">37910159</a><a href="/pmc/articles/PMC10652196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37222814">A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heinonen T,
|
||
Flegel T,
|
||
Müller H,
|
||
Kehl A,
|
||
Hundi S,
|
||
Matiasek K,
|
||
Fischer A,
|
||
Donner J,
|
||
Forman OP,
|
||
Lohi H,
|
||
Hytönen MK</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2023 Aug;142(8):1221-1230.
|
||
Epub 2023 May 24
|
||
doi: 10.1007/s00439-023-02571-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37222814" target="_blank">37222814</a><a href="/pmc/articles/PMC10449970" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29097605">PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reijnders MRF,
|
||
Janowski R,
|
||
Alvi M,
|
||
Self JE,
|
||
van Essen TJ,
|
||
Vreeburg M,
|
||
Rouhl RPW,
|
||
Stevens SJC,
|
||
Stegmann APA,
|
||
Schieving J,
|
||
Pfundt R,
|
||
van Dijk K,
|
||
Smeets E,
|
||
Stumpel CTRM,
|
||
Bok LA,
|
||
Cobben JM,
|
||
Engelen M,
|
||
Mansour S,
|
||
Whiteford M,
|
||
Chandler KE,
|
||
Douzgou S,
|
||
Cooper NS,
|
||
Tan EC,
|
||
Foo R,
|
||
Lai AHM,
|
||
Rankin J,
|
||
Green A,
|
||
Lönnqvist T,
|
||
Isohanni P,
|
||
Williams S,
|
||
Ruhoy I,
|
||
Carvalho KS,
|
||
Dowling JJ,
|
||
Lev DL,
|
||
Sterbova K,
|
||
Lassuthova P,
|
||
Neupauerová J,
|
||
Waugh JL,
|
||
Keros S,
|
||
Clayton-Smith J,
|
||
Smithson SF,
|
||
Brunner HG,
|
||
van Hoeckel C,
|
||
Anderson M,
|
||
Clowes VE,
|
||
Siu VM,
|
||
Ddd Study T,
|
||
Selber P,
|
||
Leventer RJ,
|
||
Nellaker C,
|
||
Niessing D,
|
||
Hunt D,
|
||
Baralle D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2018 Feb;55(2):104-113.
|
||
Epub 2017 Nov 2
|
||
doi: 10.1136/jmedgenet-2017-104946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29097605" target="_blank">29097605</a><a href="/pmc/articles/PMC5800346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14728094">Risk and resilience in posttraumatic stress disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yehuda R</span><br />
|
||
<span class="medgenPMjournal">J Clin Psychiatry</span>
|
||
2004;65 Suppl 1:29-36.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14728094" target="_blank">14728094</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exaggerated%20startle%20response%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39486191">Human-fecal microbiota transplantation in relation to gut microbiome signatures in animal models for schizophrenia: A scoping review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh R,
|
||
Panganiban K,
|
||
Au E,
|
||
Ravikumar R,
|
||
Pereira S,
|
||
Prevot TD,
|
||
Mueller DJ,
|
||
Remington G,
|
||
Agarwal SM,
|
||
Verdu EF,
|
||
Bercik P,
|
||
De Palma G,
|
||
Hahn MK</span><br />
|
||
<span class="medgenPMjournal">Asian J Psychiatr</span>
|
||
2024 Dec;102:104285.
|
||
Epub 2024 Oct 24
|
||
doi: 10.1016/j.ajp.2024.104285.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39486191" target="_blank">39486191</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37910159">Effects of Bullying on Anxiety, Depression, and Posttraumatic Stress Disorder Among Sexual Minority Youths: Network Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
Jin Y,
|
||
Xu S,
|
||
Wilson A,
|
||
Chen C,
|
||
Luo X,
|
||
Liu Y,
|
||
Ling X,
|
||
Sun X,
|
||
Wang Y</span><br />
|
||
<span class="medgenPMjournal">JMIR Public Health Surveill</span>
|
||
2023 Nov 1;9:e47233.
|
||
doi: 10.2196/47233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37910159" target="_blank">37910159</a><a href="/pmc/articles/PMC10652196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33407268">Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tim-Aroon T,
|
||
Wichajarn K,
|
||
Katanyuwong K,
|
||
Tanpaiboon P,
|
||
Vatanavicharn N,
|
||
Sakpichaisakul K,
|
||
Kongkrapan A,
|
||
Eu-Ahsunthornwattana J,
|
||
Thongpradit S,
|
||
Moolsuwan K,
|
||
Satproedprai N,
|
||
Mahasirimongkol S,
|
||
Lerksuthirat T,
|
||
Suktitipat B,
|
||
Jinawath N,
|
||
Wattanasirichaigoon D</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2021 Jan 7;21(1):22.
|
||
doi: 10.1186/s12887-020-02481-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33407268" target="_blank">33407268</a><a href="/pmc/articles/PMC7789739" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29097605">PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reijnders MRF,
|
||
Janowski R,
|
||
Alvi M,
|
||
Self JE,
|
||
van Essen TJ,
|
||
Vreeburg M,
|
||
Rouhl RPW,
|
||
Stevens SJC,
|
||
Stegmann APA,
|
||
Schieving J,
|
||
Pfundt R,
|
||
van Dijk K,
|
||
Smeets E,
|
||
Stumpel CTRM,
|
||
Bok LA,
|
||
Cobben JM,
|
||
Engelen M,
|
||
Mansour S,
|
||
Whiteford M,
|
||
Chandler KE,
|
||
Douzgou S,
|
||
Cooper NS,
|
||
Tan EC,
|
||
Foo R,
|
||
Lai AHM,
|
||
Rankin J,
|
||
Green A,
|
||
Lönnqvist T,
|
||
Isohanni P,
|
||
Williams S,
|
||
Ruhoy I,
|
||
Carvalho KS,
|
||
Dowling JJ,
|
||
Lev DL,
|
||
Sterbova K,
|
||
Lassuthova P,
|
||
Neupauerová J,
|
||
Waugh JL,
|
||
Keros S,
|
||
Clayton-Smith J,
|
||
Smithson SF,
|
||
Brunner HG,
|
||
van Hoeckel C,
|
||
Anderson M,
|
||
Clowes VE,
|
||
Siu VM,
|
||
Ddd Study T,
|
||
Selber P,
|
||
Leventer RJ,
|
||
Nellaker C,
|
||
Niessing D,
|
||
Hunt D,
|
||
Baralle D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2018 Feb;55(2):104-113.
|
||
Epub 2017 Nov 2
|
||
doi: 10.1136/jmedgenet-2017-104946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29097605" target="_blank">29097605</a><a href="/pmc/articles/PMC5800346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/20363166">The emotional brain and sleep: an intimate relationship.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vandekerckhove M,
|
||
Cluydts R</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Rev</span>
|
||
2010 Aug;14(4):219-26.
|
||
Epub 2010 Apr 2
|
||
doi: 10.1016/j.smrv.2010.01.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20363166" target="_blank">20363166</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Exaggerated%20startle%20response%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 (19)</a></div></div>
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