Hyperekplexia in adults

Hyperekplexia is a rare, predominantly hereditary neurologic disorder characterized by pathologic and excessive startle responses.

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

11 Hyperekplexia: genetics and culture-bound stimulus-induced disorders 12 In adults, these 'epileptic automatisms' or 'epileptic stereotypies

Hyperekplexia is a rare neurological disorder that is characterized by an excessive startle response to unexpected stimuli.

Some people with hyperekplexia are diagnosed as babies, while others do not receive a diagnosis until adulthood. There is no cure for this condition, however there are treatments available. What is the cause of hyperekplexia? Hyperekplexia is genetic, meaning it is caused by a mutation to a certain gene or genes.

These are either due to a genetic (hereditary hyperekplexia), idiopathic (sporadic hyperekplexia), or an acquired cause (symptomatic hyper-ekplexia) [3,12,20]. Based on the underlying genetic causes, OMIM has divided the hereditary hyperekplexia into hyperekplexia-1 (HKPX1, , GLRA1 glycine receptor 1 subunit mutations), hyper-

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

symptoms tend to resolve after infancy; however, adults may have Hyperekplexia is an exaggerated startle to external stimuli

the genetic disorder (hyperekplexia, sic.) and the sporadic form (hyperekplexia). 2 Gastaut and Ville-neuve21 corrected the spelling and suggested that the term hyperekplexia be used. Authors aware of this distinction have generally accepted this spelling, though startle disease is still preferable for the sake of clarity.