Head retraction reflex in stiff-man syndrome and related disorders

Abstract

The head retraction reflex (HRR) is a vestigial withdrawal reflex of the face and is suppressed in healthy subjects. We investigated the prevalence and electrophysiological patterns of the HRR in patients suffering from stiff-man syndrome (SMS, n = 28) and related disorders, stiff-limb syndrome (SLS, n = 2), and progressive encephalomyelitis with rigidity and myoclonus (PERM, n = 20). In patients with a positive HRR, the electromyographic (EMG) pattern was analyzed with surface recordings from the orbicularis oculi, sternocleidomastoid, trapezius, and the paraspinal extensor muscles at midthoracic and lumbar levels. On clinical testing, 17 of 28 SMS patients, 10 of 20 PERM patients, and 0 of 2 SLS patients had a positive HRR, ranging from a brief contraction of the neck extensors to violent retropulsion of the upper body. In all muscles, EMG reflex patterns elicited by gentle taps to the face or by electrical stimulation of the trigeminal nerve branches consisted of two components: an early, synchronous, brief burst with the shortest latency in trapezius (12.5-20.0 msec) and a late, asynchronous, longer response with latencies between 44 and 70 msec. We conclude that the HRR is an abnormal cutaneomuscular brainstem reflex that occurs in a considerable proportion of patients with SMS and related disorders. Although neither specific nor particularly sensitive for SMS, presence of the HRR in a setting with otherwise unexplained stiffness and spasms might help to avoid the otherwise frequent misdiagnosis of a psychogenic motor disturbance in patients with SMS.