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Is Hyperekplexia hereditary?

Here you can see if Hyperekplexia can be hereditary. Do you have any genetic components? Does any member of your family have Hyperekplexia or may be more predisposed to developing the condition?

Is Hyperekplexia hereditary?

Hyperekplexia is a genetic disorder characterized by an exaggerated startle response and muscle stiffness. It is typically inherited in an autosomal dominant manner, meaning that a person with the condition has a 50% chance of passing it on to their children. However, sporadic cases can also occur due to new genetic mutations. Genetic testing and counseling are recommended for individuals with a family history of hyperekplexia to assess the risk of inheritance.



Hyperekplexia, also known as startle disease, is a rare neurological disorder characterized by an exaggerated startle response to unexpected stimuli. This condition is caused by genetic mutations that affect the function of certain proteins involved in the transmission of signals in the brain and spinal cord.



When it comes to the hereditary nature of hyperekplexia, the answer is yes. This disorder is typically inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. In some cases, however, hyperekplexia can also be inherited in an autosomal recessive manner, requiring both parents to pass on a copy of the mutated gene.



Individuals with a family history of hyperekplexia have a higher risk of developing the disorder themselves. Genetic testing can be performed to identify specific mutations associated with hyperekplexia, which can help determine the likelihood of passing the condition on to future generations.



It is important to note that while hyperekplexia is hereditary, not all individuals with the genetic mutation will necessarily exhibit symptoms. Some individuals may carry the mutated gene but remain unaffected, while others may experience mild to severe symptoms.



Understanding the hereditary nature of hyperekplexia is crucial for genetic counseling and family planning. If there is a known family history of the disorder, individuals may consider seeking genetic counseling to assess the risk of passing the condition on to their children.


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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. 
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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...
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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...
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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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