Hyperekplexia

Also known as: Startle disease

Exaggerated startle response with stiffness.

Medical specialty: Neurology
Subspecialty: Neurology / Pediatric neurology; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonates
Gene(s) involved: ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5

Etiology & mechanism

Impaired glycinergic inhibition.

Gene(s) involved (5)

ARHGEF9GLRA1GLRBGPHNSLC6A5

Symptoms & signs (4)

apneaexaggerated startlehead-retraction reflexneonatal stiffness

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.