Hyperekplexia
Hyperekplexia (pronounced: hi-per-ek-plex-ia) is a rare, genetic neurological disorder characterized by an exaggerated startle response to unexpected stimuli. This condition is also known as Startle Disease.
Etymology
The term Hyperekplexia is derived from the Greek words "hyper" meaning "excessive", and "ekplexia" meaning "surprise".
Symptoms
The primary symptom of Hyperekplexia is an excessive startle response. Upon being startled, an individual with Hyperekplexia will often exhibit a rigid body posture, followed by a brief period of generalized stiffness or rigidity. This exaggerated startle response can be triggered by a variety of stimuli, including sudden noise, movement, or touch.
In infants, Hyperekplexia can cause life-threatening apnea (temporary cessation of breathing) and has been associated with Sudden Infant Death Syndrome (SIDS).
Causes
Hyperekplexia is caused by mutations in several genes, including the GLRA1 gene, which is the most common. These genes are involved in the function of glycine, an amino acid that acts as a neurotransmitter in the brain.
Diagnosis
Diagnosis of Hyperekplexia is based on the clinical symptoms, genetic testing, and the exclusion of other conditions that can cause similar symptoms.
Treatment
Treatment for Hyperekplexia primarily involves the use of medications such as clonazepam, which can help to reduce the severity of the startle response.
Prognosis
With appropriate treatment, individuals with Hyperekplexia can lead normal lives. However, without treatment, the condition can lead to serious complications, including injuries from falls and, in infants, sudden death due to apnea.
See Also
External links
- Medical encyclopedia article on Hyperekplexia
- Wikipedia's article - Hyperekplexia
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski