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]

Individuals with EIEE8 may present with severe epilepsy and intellectual disability, along with features of HKPX. The CLPB gene is associated with MEGCANN, a neurological syndrome which sometimes presents in the neonatal period with hyperekplexia. [invitae.com]

• Choking

  Recurrent apnea, feeding difficulties, choking, and sudden death are reported in some cases. [pediatricneurologybriefs.com]

• High Arched Palate

  He had minor dysmorphic features in the form of high arched palate, prominent ears, flat bridge of nose, small eyes, malformation of both hands in the form of undue separation of middle thumb and index finger with deformity, and scoliosis. [pediatricneurosciences.com]

• Small Eyes

  He had minor dysmorphic features in the form of high arched palate, prominent ears, flat bridge of nose, small eyes, malformation of both hands in the form of undue separation of middle thumb and index finger with deformity, and scoliosis. [pediatricneurosciences.com]

• Neonatal Tetany

  Differential diagnosis The differential diagnoses of hyperekplexia in the neonatal period include the congenital stiff-man syndrome, startle epilepsy, myoclonic seizures, neonatal tetany, and phenothiazine toxicity. 40 41 Hyperekplexia may also be misdiagnosed [pmj.bmj.com]

• Psychiatric Symptoms

  In addition to excessive startling, behavioral and/or psychiatric symptoms are observed. [ncbi.nlm.nih.gov]

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]

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]

Clonazepam, a gamma aminobutyric acid (GABA) receptor agonist, is the treatment of choice for hypertonia and apnoeic episodes. It, however, may not influence the degree of stiffness significantly. [pmj.bmj.com]

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]

Treatment with the proteasome blocker, lactacystin, significantly increased the accumulation of alpha1 mutants in intracellular membranes. [ncbi.nlm.nih.gov]

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]

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]