Exaggerated startle response with stiffness.
- 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
- Alternative names & eponyms
- Startle disease
Etiology & mechanism
Impaired glycinergic inhibition.
Gene(s) involved (5)
Symptoms & signs (4)
In plain terms, someone with Hyperekplexia may experience the following — click any to explore related syndromes:
Same gene(s)
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Overlapping symptoms
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Shares symptoms with
Shares genes with
None.
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