Hyperekplexia and other startle syndromes

Abnormal startle syndromes are classified into hyperekplexia, stimulus-induced, and neuropsychiatric startle syndromes. Hyperekplexia is attributed to a genetic, idiopathic, or symptomatic cause. Hereditary hyperekplexia is a treatable neurogenetic disorder. In patients with a hyperactive startle response, the first step is to characterize the extent and associations of 'response.' Secondary or symptomatic causes are particularly important in children, as they provide useful clinical clues to an underlying neurodevelopmental or neurodegenerative disorders. Particular attention should be given to any neonate or infant with generalized or episodic stiffness, drug refractory seizures, recurrent apnea, stimulus-sensitive behavioral states, or sudden infant death syndrome. Eliciting a non-habituating head-retraction reflex to repeated nose tapping should be a part of routine examination of all new-borns. Vigevano maneuver should be taught to all families and health-care workers as an emergency rescue measure. The onset of excessive startle after infancy should direct investigations for an acquired cause such as brainstem injury, antibodies against glycine receptors, and neurodegeneration. Finally, one should not forget to evaluate unexplained cases of abnormal gait and frequent falls in adults for underlying undiagnosed startle syndromes. Oral clonazepam is an effective therapy besides behavioral and safety interventions for hereditary cases. The outcomes in genetic cases are good overall.