The startle pattern in the minor form of hyperekplexia

Background: The major and minor forms of hereditary hyperekplexia (HE) are characterized by excessive startle responses, which are accompanied by transient stiffness only in major HE; patients with major HE also have continuous stiffness during infancy. A point mutation has been identified for major HE in the gene encoding the alpha(1) subunit of the lycine receptor but not far minor HE. Objective: To measure startle reflexes and autonomic responses in the major and minor forms of HE in the original Dutch HE pedigree. Design: Startle reflexes and autonomic responses were studied with 3 series of 20 auditory stimuli with intervals of 10 seconds (at 90 and 113 dB) and 60 seconds (at 113 dB). Setting: A university hospital neurologic department. Patients: Four patients with minor and 9 patients with major HE (patient groups) (a part of the Dutch HE family pedigree) and 20 health controls (control group). Main Outcome Measures: Startle movements were quantified with latencies and areas of electromyographic bursts of the following 4 muscles: the orbicular muscle of the eye, the sternocleidomastoid muscle, the biceps muscle of the arm, and thenar muscles. Autonomic reactions were measured with psychogalvanic responses. Results: The 4 muscles contracted in similar order in the groups. The onset latencies of the orbicular muscle of the eye, the sternocleidomastoid muscle, and the biceps muscle of the arm were significantly prolonged in patients with minor HE (P<.006). The frequencies of occurrence of the electromyographic bursts were not different in the minor HE and major HE groups, but they were significantly higher in both patient groups compared with those in the control group (P<.001). The magnitude of the startle responses did not differ between the 2 patient groups (P=.4), but it was larger in both patient groups than in the control group (P<.001). Startle habituation in the minor HE group was much weaker than in the major HE group (P<.001) or in the control group (P<.001). The size of psychogalvanic responses (P=.1) and the degree of habituation (P=.24) in the minor HE group did not differ from those in the major HE group. Compared with that in the control group, the size of psychogalvanic responses in the minor HE group was larger (P<.001) and they habituated stronger (P<.001). Conclusions: The differences in the startle pattern between major HE and minor HE agree with the clinical and genetic findings: only major HE constitutes part of the HE phenotype. The cause of the minor HE is, as yet, unknown.