Catalog

Hereditary hyperekplexia due to Glycine receptor subunit mutations

No MMS code

Link to WHO Definition

Hereditary hyperekplexia due to Glycine receptor subunit mutations – http://id.who.int/icd/entity/693631704

Hereditary hyperekplexia characterised by 3 characteristics: a generalised stiffness after birth; excessive startling to an unexpected stimulus, particularly auditory stimuli; and generalised stiffness after a startle reflex that lasts a few seconds. The hereditary form is autosomal dominant and associated with a glycine receptor mutation.