An initial diagnosis of HPX may be based on the clinical presentation of the condition. [verywellhealth.com]

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

The SHEEPR variant presented here causes a frameshift at amino acid 485, replacing the last 13 amino acids with 53 novel residues. [practicalneurology.com]

The present case did show a positive response on the test. [journals.lww.com]

The data of MRI over a time, performed at the age of four months, are presented in Fig. 3. Fig. 3. Magnetic resonance imaging of a patient at the age of 4 months. Axial sections, T1 VI, T2 VI, Flair. [journals.eco-vector.com]

• Asymptomatic

  Because the mother remains asymptomatic, we may argue that the deficient SLC6A5 is partially cleared away by the NMD pathway or does not cause any other dominant negative effect. [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., 2001 [jneurosci.org]

• Fear

  Anxiety is unreported in HPX; in the index case, this feature could be related to fears of fall. Also unusual is the absence of perinatal stiffness, considered as one of the diagnostic criteria for HPX, and the functional overlay in the index case. [ng.neurology.org]

  Everything happens in full consciousness and in the absence of a simultaneous feeling of fear on the part of the patient. [frontiersin.org]

  The triad of the symptoms underlying the major form of HE consists of congenital generalized stiffness, excessive “fearfulness,” and muscle stiffness during fright; nocturnal myoclonus is also often noted. [journals.eco-vector.com]

  Six out of 161 reviewed patients exhibited a wide-based and stiff gait due to considerable fear of an unexpected falling event, and two patients lacked confidence in outdoor environments, resulting in impaired social behavior. [e-jmd.org]

• Stroke

  Wells Street Suite 1100 Milwaukee, WI 53202-3823 Phone: (414) 276-2145 Email: [email protected] Website: http://www.movementdisorders.org NIH/National Institute of Neurological Disorders and Stroke P.O. [rarediseases.org]

In recurring cases without clinical clues, genetic workup might be useful to shed some light on the nature and course of the disease. [ncbi.nlm.nih.gov]

Off-label This medication may not be approved by the FDA for the treatment of this condition. [drugs.com]

Treatment Treatments are often aimed at managing the symptoms of HPX, most notably the overactive startle response and muscle systems. Currently, there is no cure for the disorder. [verywellhealth.com]

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]

In terms of treatment, the specific medicine for hyperekplexia is clonazepam, and clonazepam was verified to be effective in the present case. [journals.lww.com]

Fenzi et al, 1988) Strychnine poisoning (this is a inhibitor of the glycine receptor) Treatment of Hyperekplexia The main treatment for hyperekplexia is benzodiazepines, such as low dose clonazepam. [dizziness-and-balance.com]

The prognosis is favorable and with a correct therapy, no motor and cognitive deficits are registered in the long-term follow-up [2]. [journals.eco-vector.com]

[…] on the cell surface but displays reduced current and channel opening.6 HPX occurs also as part of severe neurodevelopmental syndromes associated with mutations in ARHGEF9 and GPHN, the latter is a lethal condition, which illustrates the importance of etiologic [ng.neurology.org]

[…] 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]

[…] the pronounced clinical presentation of brain damage (chronic impairment of the consciousness, spasticity, hypokinesia, and HE phenomena) and an increase in the structural changes of brain, a genetic examination was performed to clarify the disease etiology [journals.eco-vector.com]

There were no evidence or anamnestic hints for an infection or other acquired or environmental etiology for the attacks despite investigations. [ncbi.nlm.nih.gov]

Not being part of a typical pathological picture, they were classified as “non-specific,” and a possible inflammatory or post-inflammatory etiology was evaluated. [frontiersin.org]

The first genetic analysis of hyperekplexia was carried out in a large Dutch family in 1995 and revealed a mutation within the glycine receptor alpha 1 (GLRA1) gene.[3] No epidemiological data for hyperekplexia have been published to date, but more than [journals.lww.com]

[…] common disorders (i.e., epilepsy, mood tone, or anxious spectrum disorders), given the possibility, as in the patient described below, of abnormal presentations (compared with those of typical cases described in literature) observed from a genetic, epidemiological [frontiersin.org]

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

The nosology and pathophysiology of myoclonus. In: Marsden C.D., Fahn S., eds. Movements disorders. London, Butterworths Scientific: 196–248, 1982. Google Scholar [2] Suhren O., Bruyn G.W., Tuynman J.A.:Hyperekplexia: a hereditary startle syndrome. [link.springer.com]

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

A variety of animal models and in vitro studies have provided valuable knowledge on HPX associated with GLRA1 mutations,3,6,7 but questions about pathophysiology and variable expressivity still await answers. Author contributions M. Paucar, J. [ng.neurology.org]

[…] of hyperekplexia treatment is clonazepam, a GABA-receptor agonist that enhances GABA-gated chloride-ion channel function and presumably compensates for the dysfunction of the glycine-gated chloride channel in hyperekplexia.8 As would be predicted by pathophysiology [practicalneurology.com]

In order to prevent injury and improve the quality of the patient's life, it should be treated as early as possible, because early diagnosis and treatment are important for preventing life-threatening apnea.[5] Prompt genetic analysis of an amniotic fluid [journals.lww.com]

Infections Tetanus, which prevents release of glycine Creutzfeldt-Jakob disease (cortical hyperexcitability due to this prion disorder) (Graveline et al, 2019) Subacute sclerosing panencephalitis Other encephalitus (e.g. [dizziness-and-balance.com]

The mesh screen prevents direct contact between the ice (placed in the outer part) and the hand of the subject (placed in the inner part). The water is regularly mixed to maintain the temperature in the inner part near to 0°C. [clinicaltrials.gov]

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]

Symptoms include extreme muscle tension (stiffness or hypertonia) that prevent voluntary movement and can cause the affected person to fall stiffly, like a log, without loss of consciousness. [rarediseases.org]