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.