Trismus was the presenting feature, but she later developed hyperekplexia. Although most brainstem features resolved spontaneously, the hyperekplexia has persisted. [ncbi.nlm.nih.gov]

Due to its seizure-like presentation, it is usually misdiagnosed. [neurologyindia.com]

He currently is treated with clonazepam but still presents with moderate hypertonia of the limbs and jerks on nasal percussion. [jmg.bmj.com]

• Epilepsy

  Many patients referred for an epilepsy evaluation actually suffer from one of many conditions that can imitate it. Imitators of epilepsy are a diverse group that involve consideration of many areas of internal medicine, neurology, and psychiatry. [books.google.de]

  This unusual entity differs from startle epilepsy and cataplexy. Clonazepam proved ineffective in three patients. Valproic acid, 5-hydroxytryptophan, or piracetam markedly reduced the abnormal startle in three patients. [ncbi.nlm.nih.gov]

  From Genetics associated with mutations in glycine receptor alpha-1 gene associated with mutations in glycine receptor beta gene hypereplexia with epilepsy associated with mutations in the ARHGEF9 gene associated with defects in GPHN associated with defects [anvita.info]

  Epilepsy, Idiopathic Generalized, Susceptibility To, 10 EIG10 613060 Genetic Test Registry Epilepsy, Idiopathic Generalized, Susceptibility To, 12 EIG12 614847 Genetic Test Registry Epilepsy, Idiopathic Generalized, Susceptibility To, 9 Epilepsy, Juvenile [ukgtn.nhs.uk]

• Sudden Infant Death Syndrome

  This may explain some cases of sudden infant death syndrome (SIDS). Symptoms typically fade by age 1. However, older individuals with this condition may still startle easily and have periods of rigidity. [diseaseinfosearch.org]

  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. The exact prevalence of hereditary hyperekplexia is unknown. [ghr.nlm.nih.gov]

  During these rigid periods, some infants may stop breathing (apnea), which can be fatal and has been associated with sudden infant death syndrome (SIDS). [rarediseases.info.nih.gov]

  People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.Hereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger [icdlist.com]

  This increase in tone can cause periods of muscle rigidity that can sometimes lead to an infant’s death (SIDS – Sudden Infant Death Syndrome) due to an inability to breathe. [multiplesclerosis.net]

• Asymptomatic

  Both parents were asymptomatic and family history was not contributory. [indianpediatrics.net]

  Both parents and 1 asymptomatic sister were heterozygous for the S231R mutation. [ncbi.nlm.nih.gov]

  By contrast, all nonsense and frameshift mutations in GLRA1 are associated with recessive cases of hyperekplexia with asymptomatic carrier parents, proving that hyperekplexia is not susceptible to haploinsufficiency ( Brune et al., 1996 ; Rees et al., [doi.org]

  Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. [amp.pharm.mssm.edu]

• Hypersomnia

  Claudio Bassetti and Michael Aldrich, Narcolepsy, Idiopathic Hypersomnia, and Periodic Hypersomnias, Sleep Disorders and Neurological Disease, 10.1201/9780824741914.ch16, (2010). Behnaz Vafa and Peter R. [doi.org]

• Dyspnea

  Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. [findzebra.com]

• Vomiting

  SYNDROME exfoliation syndrome FACES Syndrome facial hemiatrophy Facio Thoraco Genital Syndrome Faciocardiomelic Syndrome Faciocardiorenal Syndrome factitious disorder + Failed Back Surgery Syndrome Familial Antiphospholipid Syndrome Familial Cyclic Vomiting [rgd.mcw.edu]

  […] combined immunodeficiency disease Dihydropyrimidinase deficiency Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting [amp.pharm.mssm.edu]

• Angioedema

  hereditary, type III Sequencing of all coding exons of the gene - - 1.8 F12 Factor XII deficiency Sequencing of all coding exons of the gene - - 1.8 F12 Hereditary angioedema type III (mutation in exon 9 of the F12 gene) Sequencing of all coding exons [cegat.de]

  […] deficiency) BTK (Agammaglobulinemia and isolated hormone deficiency) BUB1B (Mosaic variegated aneuploidy syndrome) C10orf2 (Mitochondrial DNA depletion syndrome, hepatocerebral form) C16orf57 (Poikiloderma with neutropenia) C1GALT1C1 (Tn syndrome) C1NH (Angioedema [en.praenatal-medizin.de]

  […] type 1 Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. [amp.pharm.mssm.edu]

• Skin Disease

  disease Spinocerebellar Ataxia, Familial Late-Onset Ataxia and Familial Episodic Ataxia Any ABN ordinary member can apply to ascertain a neurological condition using the RaDAR, using these guidelines and application form. [theabn.org]

  Epidermodysplasia verruciformis An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. [amp.pharm.mssm.edu]

• Long Arm

  A comparison of three methods to produce a high resolution physical map of 11 genes on the distal region of the long arm of human electrophoresis and fluorescent in situ hybridization. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A248, 1992. [ncbi.nlm.nih.gov]

• Myoclonus

  Brown P (2002) Fahn S (ed) Myoclonus and paroxysmal dyskinesias. Advances in neurology, vol 89. Lippincott Williams & Wilkins, Philadelphia, pp 153–159 Google Scholar 5. [link.springer.com]

  […] gene hypereplexia with epilepsy associated with mutations in the ARHGEF9 gene associated with defects in GPHN associated with defects in SLC6A5 autosomal dominant or autosomal recessive Clinical-manifestations abnormal startle reflex muscle hypertonia myoclonus [anvita.info]

  These include immune-related chorea, vascular chorea, metabolic disturbances that can induce chorea, chorea in other medical settings (e.g., postpump chorea in children, cancer-related paraneoplastic syndromes), myoclonus, essential tremor, and dystonia [books.google.de]

• Hyperactivity

  Patients may also have umbilical and inguinal hernias and hyperactive brainstem reflexes such as head retraction, palmomental and snout reflexes. The disorder is rare and has been reported in about 70 families worldwide. [cags.org.ae]

  Extrapyramidal and movement disorders ( G20-G26 ) Other extrapyramidal and movement disorders ( G25 ) Version 2019 Billable Code Information for Medical Professionals Convert to ICD-9 333.91 - Stiff-man syndrome Synonyms Disorders of spinal neurones manifest by hyperactivity [icdlist.com]

  Hyperactivity of cortical neurons, abnormalities of the inhibitory systems of the brain, and abnormalities of the serotoninergic pathways are among the proposed mechanisms. 13-16 Experimental data suggest the importance of nucleus gigantocellularis in [pmj.bmj.com]

  […] encoding collybistin causing epilepsy in addition. [7] Other postulates are excessive neuronal excitation due to interruption of thalamic pathways which inhibit descending pathways. [5], [8] Delayed maturation of control over brain stem, reticular neuronal hyperactivity [pediatricneurosciences.com]

  Hermansky-Pudlak syndrome 1 Osteitis deformans A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in [amp.pharm.mssm.edu]

We investigated him with neurometabolic workup, autoantibody profile for NMDA, VGKC, GAD, CK, and long loop reflexes which were noncontributory. [pediatricneurosciences.com]

Contributors: VBB carried out the workup, follow up, literature review and also drafted the manuscript. SBR was responsible for diagnosis, supervision and overall management. She will stand as the guarantor for the manuscript. Funding: None. [indianpediatrics.net]

• Polyps

  II) TAZ (Barth syndrome) TBCE (Hypoparathyroidism-retardation-dysmorphism syndrome) TBS19 (Adrenocorticotropic hormone deficiency) TBX1 (Conotruncal anomaly face syndrome) TBX15 (Cousin syndrome) TBX20 (Atrial septal defect 4) TBX21 (Asthma and nasal polyps [en.praenatal-medizin.de]

  Juvenile polyposis syndrome An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. [amp.pharm.mssm.edu]

Drugs Used to Treat Hyperekplexia The following list of medications are in some way related to, or used in the treatment of this condition. [drugs.com]

Hypertonia was relieved and startle responses were milder following treatment with clobazam. At 18 month follow-up, an apnea monitor was discontinued, but clobazam treatment (0.2 mg/kg/daily) was still required. [ 1 ] COMMENT. [pediatricneurologybriefs.com]

Management and treatment Symptomatic treatment in adults involves clonazepam (1mg per day). In children lower doses are required. Vigabatrin is ineffective. [orpha.net]

Find diagnostic and treatment information quickly and easily thanks to a highly illustrated, easy-to-read format that highlights key details. [books.google.de]

Prognosis In most patients, fear of falling and the toddling gait normalizes in adolescence. [orpha.net]

• Treatment with clonazepam is effective with an eventual good prognosis. 1. Tohier C, Roze JC, David A, Veccierini MF, Renaud P, Mouzar D. Hyperekplexia or stiff-baby syndrome. Arch Dis Child 1991; 66: 460-461. 2. Giacoia Gp, Ryan SG. [indianpediatrics.net]

Etiology Mutations in the GLRA1 gene (5q32) are found in about 30% of patients with hereditary hyperekplexia (and a considerable number of patients without an obviously affected parent). [orpha.net]

In this article, the author details developments in etiology, genetics, and clinical manifestations. Pharmacological treatment of hyperekplexia with clonazepam is often lifesaving. [medlink.com]

[…] the homozygous form in both the affected sisters, and absence of the variant in the homozygous form in unaffected family members. » Conclusion This case emphasizes the power of exome sequencing in the diagnosis of genetic disorders of heterogeneous etiologies [neurologyindia.com]

It reviews new findings, based on animal models, genetic studies and imaging, that have led to a deeper understanding of the clinical features, epidemiology, and pathogenesis of these disorders. [books.google.com]

Summary Epidemiology To date about 150 cases have been reported in the literature. [orpha.net]

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. J Neurosci. 2010;30:9612–20. [ncbi.nlm.nih.gov]

This evidence-based approach is essential for establishing the pathophysiological principles underlying the abnormal startle response. [doi.org]

Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI: Pathophysiological [jmedicalcasereports.biomedcentral.com]

Author information 1 Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia. [email protected] Abstract Hereditary hyperekplexia, or startle disease, is a neuromotor disorder caused mainly by mutations that either prevent [ncbi.nlm.nih.gov]

In some situations, determining the genetic cause of disease can provide clinically actionable guidance for treatment or prevention. CGI provides accurate science and services necessary to interpret disease causing mutations correctly. [genomicinterpretation.org]

Symptoms include extreme muscle tension that prevents voluntary movement. This means the affected person can fall stiffly - like a log - without loss of consciousness. Exaggeration of reflexes and an unstable manner of walking may also occur. [dailymail.co.uk]

The timely diagnosis of hyperekplexia will allow families to take adequate preventive measures; moreover, prenatal diagnosis can be provided to families when mutation is identified in the proband. Financial support and sponsorship Nil. [neurologyindia.com]

Clonazepam may also help to prevent symptoms of HKPX. The GPHN and ARGHEF9 genes are associated with syndromic forms of HKPX. [invitae.com]