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What is the prevalence of Hyperekplexia?

How many people does Hyperekplexia affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Hyperekplexia

Hyperekplexia, also known as startle disease, is a rare genetic disorder characterized by an exaggerated startle response to unexpected stimuli. The prevalence of Hyperekplexia is estimated to be around 1 in 20,000 to 1 in 100,000 individuals worldwide. This condition is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition to their offspring. Although Hyperekplexia is rare, it can significantly impact an individual's quality of life and may require medical management and support.



Hyperekplexia, also known as startle disease, is a rare genetic neurological disorder characterized by an exaggerated startle response to unexpected stimuli. This condition is caused by mutations in certain genes involved in the normal functioning of inhibitory neurotransmitters in the brain, particularly glycine receptors.



Due to its rarity, the prevalence of Hyperekplexia is relatively low. It is estimated to affect approximately 1 in 40,000 to 60,000 individuals worldwide. However, the exact prevalence may vary across different populations and regions.



Hyperekplexia can present at birth or during infancy, with symptoms including excessive startle reflex, muscle stiffness, and temporary muscle rigidity. These exaggerated startle responses can lead to falls, injuries, and developmental delays if not properly managed.



While there is currently no cure for Hyperekplexia, treatment options such as medication and physical therapy can help manage the symptoms and improve the quality of life for affected individuals.


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Prevalence of Hyperekplexia

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World map of Hyperekplexia

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Stories of Hyperekplexia

HYPEREKPLEXIA STORIES
Hyperekplexia stories
My son, born April 2016, was diagnosed with Hyperekplexia five days after birth. He has it rather severely, with reoccurring apnoeas. Please feel free to contact me, especially if you are a new parent or have the GLRB mutation. 
Hyperekplexia stories
Born in 1944,Very stiff when awake and always jumpy when startled,fell a lot during child hood and did not protecked myself with hands,went all through school years still a bit stiff,but nobody understood in those days and we just got on with life.al...
Hyperekplexia stories
Hi, My daughter is 3yrs old. When she was born she had her first "episode". her episodes consist of her startling, going stiff, shaking. she used to have up to 60/70 a day. she has a very disturbed sleep and is a very anxious little girl. her doctors...
Hyperekplexia stories
 My name is Jared, when I was younger a lot of my falls were chalked up to me being an accident prone kid, after many years of wrongful diagnosis of psychological issues it was finally determined that my condition was indeed neurological, and the di...
Hyperekplexia stories
i developed what the Drs thought was epilepsy at 22 years of age. My symptoms have changed over the years to the stage where a fright makes me seize and fall, aslso don't even need noise these episodes just happen, I can have 1 a day to 10 or more a ...

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