Classic hyperekplexia is caused by genetic mutations in a number of different genes, all of which play an important role in glycine neurotransmission. Glycine is used by the central nervous system as an …

Oct 28, 2024 · Hyperekplexia is a rare genetic condition in which you or your baby have muscle stiffness and an exaggerated startle response to sudden, unexpected stimuli, like noises, movements or touches.

Hyperekplexia (HPX) is a rare hereditary disorder characterized by an exaggerated startle reflex and neonatal hypertonia. It exhibits both autosomal dominant and autosomal recessive inheritance …

Mar 19, 2013 · Learn about Hyperekplexia, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources and.

Oct 13, 2025 · Hyperekplexia is a rare condition causing an exaggerated startle reflex to unexpected stimuli like noise or touch. Tests like genetic testing, EEG, and EMG can confirm a hyperekplexia …

Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises.

Nov 14, 2025 · Discover hyperekplexia symptoms, types, causes, and treatment options in this comprehensive guide to better understand and manage this rare disorder.

Sep 15, 2020 · Abnormal startle syndromes are classified into hyperekplexia, stimulus-induced, and neuropsychiatric startle syndromes. Hyperekplexia is attributed to a genetic, idiopathic, or …

Mar 20, 2026 · Hyperekplexia, also known as stiff baby syndrome, is a rare neurological disorder characterized by abnormal startle responses and muscle stiffness. The condition primarily affects …

Abnormal exaggerated startle reflex or symptomatic hyperekplexia is an important bedside clue for the diagnosis of infantile GM2 gangliosidosis. It may indicate an underlying cerebral or brainstem damage.