Hyperekplexia in adults

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Actual: Table 15.4 Comparison between stiff-person spectrum disorders, hereditary hyperekplexia and adult hyperekplexia. Of note, hyperekplexia in adults include sporadic and symptomatic forms, as well as hereditary hyperekplexia that have residual symptoms persisting into adulthood
4.9 rating 2025-04-24
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The Invitae Hereditary Hyperekplexia Panel analyzes genes associated with hyperekplexia (HKPX), a disorder characterized by generalized stiffness after birth that typically normalizes within the first few years of life, along with an excessive startle reflex followed by generalized stiffness.

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signs and symptoms of hereditary hyperekplexia. Mutations in other genes account for the remaining cases of hereditary hyperekplexia. Learn more about the gene associated with Hereditary hyperekplexia GLRA1 Additional Information from NCBI Gene: GLRB SLC6A5 Inheritance Hereditary hyperekplexia has different inheritance patterns.

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It is used in the treatment of several types of seizures, Epilepsy, Panic Disorder, Anxiety Disorders and hyperekplexia [Articles: , , ].

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in a parturient. These cases suggest a possible resistance to depolarizing neuromuscular blocking agents and increased risk of malignant hyperthermia. There are no case reports of adults with hyperekplexia receiving general anesthesia. We report the case of a 20-year-old woman with hyperekplexia who safely received general anesthesia without neuromuscular blockade for a laparoscopic colectomy.

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However, children and adults with hyperekplexia can manifest with tonic and clonic generalized attacks with cyanosis, repeated myoclonic jerks

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by Y Lee 2024 Cited by 19Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult

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by F Colucci 2024 Cited by 3Motor tics rank high on the differential diagnosis of hyperkinetic shoulder movements, particularly in children or young adults. including hyperekplexia and

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by R Gómez-Nieto 2024 Cited by 83Some authors suggest that there is no effect of age on PPI in adult mice [38] and humans [39]. Patients with neurological disorders such as hyperekplexia [49]

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What is Hyperekplexia? Hyperekplexia is an extremely rare neurological disorder that is inherited and is seen mostly in newborns but children and adults may also have it. It is characterized by the person having excessive startle response or reflex consisting of eye blinking and body spasms. These responses are noted even to slightest of sound, [ ]

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