Dystonia with Eye Movement Abnormalities

Clinical Signs: vertical saccades are defective; tracking is good vertically and laterally. Presenting Symptom: prominent sardonic grin; retraction of eyelids; eyes conjugate with steady fixation. Clinical: V-20/20. Lag of adduction suggesting subclin. INO but no nyst of abduct eye and no vert nyst. Lid retraction on dn gz but closes eyes when asleep (with flickering of lids when done voluntarily) Little or no vert saccades but some vert pursuit. Impression: Atyp.subclin INO(due to hypertonus of lat.recti ie failure of relaxion? Also failure of lids to relax. Review of Record: 2 yr Hx, tightness of voice, 1 yr Hx, (handwritten word) (handwritten word) rt arm (handwritten word). (More Hand Written Notes And Can Not Read) Review of tape: Conspicuous features were the lid retraction (despite spasticity of facial muscles), infrequency of blinking, and vertical gaze palsy; INO also present. Pt. then had a left thalamotomy with marked improvement in lid functions (no longer lid retraction & presence of blinking) but vert, gz and INO unaffected. History: Male patient; facial changes were noted first, followed by retraction of the eyelids, stiffness and occasional spontaneous movement of the arms, especially on the right. Pt. of Dr. Norman Foster. 24 yr old man with prog. dystonia of 2 yrs dur.involv. side. Initial Sx was retraction of lids and diplopia. Has to support limb by sitting on hands. Has extreme facial contraction and sardonic grin. Bilateral Internuclear Opthalmoplegia. Disease/ Diagnosis: Dystonia