Journal of Neuro-Ophthalmology 20(4): 276-284, 2000. © 2000 Lippincott Williams & Wilkins, Inc., Philadelphia Synkinetic Blepharoclonus Daniel E. Jacome, MD Objectives: To analyze the clinical data and test results col­ Blepharoclonus is the repetitive, easily detectable, lected in a group of patients exhibiting eyelid-closure blepharo­ myoclonic contractions of the orbicularis oculi muscle clonus (BLC) on clinical neurologic examination. (1). It is commonly apparent with light eyelid closure and Materials and Methods: Thirty-five patients were referred for may be suppressed by forceful eyelid contraction (2). In neurologic evaluation for reasons other than BLC. Clinical electrophysiologic evaluations, including cranial nerve testing contradistinction, blepharospasm (BLS) is a focal dysto­ and electromyograms, were done according to standards. All nia manifested by forceful and sustained involuntary clo­ patients had neuroimaging studies, including brain magnetic sure of the eyelids, often accompanied by great difficulty resonance imaging and head computerized tomography, or in opening the eyes on command or free will, which is a both, and many had electroencephalograms. Additional tests clinical phenomenon called "apraxia of lid opening" were done based on the patient's symptoms or reasons for (3,4). However, attempts to open the eyelids during epi­ referral. sodes of BLS may be confused with BLC, or with paretic Results: Eight patients had reflex BLC. Two cases were pre­ tremors of the eyelids in a patient with partial denerva­ cipitated by vertical gaze; one of these patients had hereditary tion of the orbicularis oculi. Blepharoclonus may be pro­ palmoplantar keratoderma and cataplexy, and the other patient voked by stretching of the obicularis oculi or by gaze had Ehlers-Danlos syndrome and familial BLC. Other precipi- deviations (5,6). Synkinetic BLC is defined here as: tants included speech in four cases, postural changes in two cases, and light stimulation in one case. Two patients had gen­ 1. the involuntary movements, fasciculations, or facial eralized myoclonus independent of their BLC, two patients had electromyogram (EMG) motor units firing, triggered a history of sleep myoclonus, and several patients had BLC- associated facial myoclonus. One patient had BLC-associated by, or associated with BLC, normally affecting myoclonus of the right shoulder. Synkinetic cranial movements muscles other than the orbicularis oculi; were detected in 11 patients (four oculofacial, three oculo- 2. BLC-enhanced cephalic and extracephalic focal, mul­ pterygoid, one oculolingual, two dual cases, and one case of tifocal, or generalized tremors; imitation synkinesis.) Three patients had familial BLC, seven 3. BLC in patients exhibiting other cranial synkinesis patients had congenital developmental disorders, six patients (synkinetic movements); had synkinetic tremors, and six patients had restless feet. Some 4. reflex BLC. indication of peripheral neuropathy was evident in eight pa­ tients. The last subgroup may be identified by the specific Conclusions: Eyelid-closure BLC is an underrecognized, spo­ mechanism that causes BLC (see below). Those mecha­ radic or familial, mostly benign, chronic eyelid-movement dis­ nisms are stretching of the orbicularis oculi, stimulation order that may be associated with tremors, myoclonus, cranial by sudden illumination, speech, changes in body posture, synkinesis, and restless feet. Reflex mechanisms may be iden­ and gaze deviations. Although both patients reported by tified in some patients. Gaze-induced BLC seems to have the Obeso et al. (5) had reflex BLS and BLC, either one of greatest clinical relevance. In the current series, there were no examples of posttraumatic BLC, multiple sclerosis, hydroceph­ these conditions may occur independently. In reflex alus, or blepharospasm conditions previously reported to be BLS, the eyes are involuntarily forcefully shut, while in associated with BLC. No electroencephalographic abnormali­ pure-reflex BLC, only rapid myoclonus of the eyelids is ties were recorded during BLC, ruling out eyelid-closure epi­ observed in the absence of sustained contraction of the lepsy. orbicularis oculi. Key Words: Blepharoclonus—Blepharospasm—Cranial syn­ kinesis—Eyelids—Movement disorder—Myoclonus— MATERIALS AND METHODS Synkinetic movements. After a few patients with BLC referred for other neu­ rologic disorders were identified by the author, a system­ Manuscript received February 8, 1999; accepted February 16, 2000. atic search for this condition was performed for all new From the Franklin Medical Center, Greenfield, Massachusetts, and patients in the author's practice. A total of 35 patients the Section of Neurology, Dartmouth-Hitchcock Medical Center, Leba­ non, New Hampshire. with BLC, ranging in age from 11 to 75 years, was Address correspondence and reprint requests to Daniel E. Jacome, collected over a 5-year period. These patients were iden­ MD, 1 Burnham Street, Suite 2, Turners Falls, MA 01376. tified on routine neurologic examination when asked to 276 SYNKINETIC BLEPHAROCLONUS 277 TABLE 1. Reflex synkinetic blepharoclonus Patient/Sex/ Age (y) Signs Diagnoses Symptoms Tests Other l/F/38 Action tremors of hands, Demyelinating retrobulbar Objects blurred, lacked VERS showed conduction Progressive improvement frequent rotational feet optic neuropathy and color in vision OS; slowing through optic of vision in follow-up movements at rest; BLC axonal peripheral V/A 20/20 nerve OS; brain MRI: with no new with light eyelid closure neuropathy of unknown normal; EMG legs; symptoms enhanced by sitting or etiology; synkinetic complex polyphasic standing, greatly (reflex) BLC MUPs recorded over leg diminished lying down muscles; no spontaneous activity 2/F/43 Hypermobile joints, soft Synkinetic BLC; common Back pain, numbness, LS spine MRI: normal; Family history of EDS, skin with very visible migraine; EDS-related LS tingling of left leg; brain MRI: T2-weighted somnambulism, eyelid veins, tenderness of the plexopathy, subcortical left side pulsatile nodular subcortical closure BLC spine, left leg weakness, nodular gliosis headaches without white-matter abnormal gait; downward warnings, sensitive high-intensity signals of gaze BLC and myokymia teeth greater prominence over of lower eyelid; speech- the left frontal region; related BLC; allodynia of EMG of legs: teeth spontaneous normal MUPs at rest over both TA and left EDB muscles J/F/44 BLC with upward gaze; Palmoplantar keratoderma, Sudden falls precipitated EEG, ECG, MRI of the LS Family history of palmoplantar focal leukoencephalopathy, by emotions, without spine, 2D echocardiogram: hemophilia, common hyperkeratosis, greater cataplexy, sciatica, loss of consciousness; normal; no organomegaly migraine over feet (Fig. 1) gaze-evoked BLC right leg postexertional by CT of the abdomen; pain EMG of the right leg: right sciatica; MRI of the brain: focal demyelination (Fig. 2), Hexososaminidase A, aryl sulphatase A, plasma aminoacid levels, cellular cholesterol esterification normal 4/M/44 Chronic ptosis and miosis Cluster headaches with Episodic severe pain Brain MRI/MRA, CNT, Negative OD; action tremors of residual chronic ipsilateral behind right eye, CT, MRI of LS spine, hands on flexion- Homer syndrome; numbness of right VERs BAERs: normal extension at the wrists; synkinetic BLC thigh and right side of frequent involuntary face movements of feet a( rest; eyelid-closure BLC; bilateral involuntary myoclonic contractions of the orbicularis oris with lateral gaze; frequent blinking (40-50 « blinks/min); BLC triggered by intense light stimulation without LOC 5/F/47 Eyelid-closure BLC Migraine with aura, Pounding headaches Brain MRI: normal Mother had migraines triggered by speech and synkinetic BLC preceded by preceded by light stimulation compulsive yawning compulsive yawning 6/F/50 BLC with light eyelid Synkinetic BLC; drug Diplopia and transient Brain MRI: normal; CNT: Breast cancer by history; closure, greatly enhanced reaction; limited confusion after normal MUPs present • no previous history of in supine position continuous facial ingestion of lorazepam at rest over right Bell palsy muscle-fiber activity orbicularis oris and both mentalis muscles on facial EMG; Anti-Yo, anti-Ri antibodies: negative 7/F/66 BLC with eyelid closure Monoclonal gammopathy- Intermittent numbness of IgG lambda monoclonal Hypertension and during speech; associated peripheral limbs and left side of gammopathy; C-spine ipsilateral deviation of neuropathy, synkinetic face MRI: spinal stenosis; jaw with lateral gaze; BLC, oculopterygoid left leg EMG: complex generalized deep-tendon synkinesis, speech- prolonged polyphasic hyporeflexia induced BLC MUPs over RF and EDB muscles with no F-wave responses 8/F/73 Eyelid closure and Synkinetic BLC, corticobasal Writing tremors, poor Head CT: cortical atrophy; Negative speech-induced BLC; ganglionic degeneration, mobility, abnormal EEG, CNT, SPECT: leans toward left when truncal dystonia posture normal sitting; rigidity, akinesia of right arm BAER, brain stem auditory-evoked responses; BLC, blepharoclonus; CNT, cranial nerve testing; CT, computed tomography; EDB, extensor digitorum brevis; ECG, electrocardiogram; EDS, Ehlers-Danlos; EEG, electroencephalogram; Ig, immunoglobulin; LOC, loss of consciousness; LS, lumbosacral; MRA, magnetic resonance angiogram; MRI, magnetic resonance imaging; MUP, motor unit potentials; RF, rectus femoris; SPECT, single proton emission CT; TA, tibilias anterior; V/A, visual acuity;