Journal ofNeutrology, Neurosurgery, and Psychiatry, 1976, 39, 1204-1209

Blepharospasm-oromandibular dystonia syndrome(Brueghel's syndrome)

A variant of adult-onset torsion dystonia?

C. D. MARSDEN

From the University Department oJ Neurology, Institute of Psychiatry, and King's College Hospital MedicalSchool, Denmark Hill, London

SYNOPSIS Thirty-nine patients with the idiopathic blepharospasm-oromandibular dystoniasyndrome are described. All presented in adult life, usually in the sixth decade; women were more

commonly affected than men. Thirteen had blepharospasm alone, nine had oromandibular dystoniaalone, and 17 had both. Torticollis or dystonic writer's cramp preceded the syndrome in two patients.Eight other patients developed torticollis, dystonic posturing ofthe arms, or involvement ofrespiratorymuscles. No cause or hereditary basis for the illness were discovered. The evidence to indicate that thissyndrome is due to an abnormality of extrapyramidal function, and that it is another example ofadult-onset focal dystonia akin to spasmodic torticollis and dystonic writer's cramp, is discussed.

Idiopathic blepharospasm is well recognised, butidiopathic oromandibular dystonia is not. The latterconsists of prolonged spasms of contraction of themuscles of the mouth and jaw. These dystonic move-ments appear to be distinct from the chewing, lipsmacking, and tongue rolling choreiform movementsthat characterise the more familiar orofacial dyskin-esia. Orofacial dyskinesia, whether drug-induced orspontaneous in origin, is not discussed further in thispaper.Both blepharospasm and oromandibular dystonia

may occur in patients with known diseases of thebasal ganglia such as those that cause symptomatictorsion dystonia, or may be produced by neurolepticdrugs. They may present also as isolated dyskinesiasin middle or late adult life in otherwise normal people.Both have been regarded by many as 'psychogenic'.However, I have now seen 39 patients with theseconditions, and the data they afford lead to the con-clusion that they are diseases which may be focalmanifestations of the syndrome of adult-onsettorsion dystonia.

Idiopathic blepharospasm and oromandibulardystonia may occur separately or together. Hence thesuggested title 'blepharospasm-oromandibular dys-tonia syndrome', which may have been describedfirst by Meige (1910). However, I am grateful to Dr

(Accepted 15 July 1976.)

R. E. Kelly for pointing out that Pieter Brueghel, theElder, clearly recognised the syndrome (Fig. 1). Morerecently Altrocchi (1972) described two patients withisolated oromandibular dystonia, and Paulson (1972)reported three patients with blepharospasm andoromandibular dystonia.

CASE MATERIAL

All the patients to be described were in normal healthat the onset of their illness, were taking no drugsknown to provoke dyskinesias at that time, and hadno other neurological or mental deficit.

I have seen 13 patients with isolated idiopathicblepharospasm, 17 with both blepharospasm andoromandibular dystonia, and nine with isolatedidiopathic oromandibular dystonia (Table). In allthree conditions, women were more frequentlyaffected than men (25 females; 14 males); the peakage of onset was in the sixth decade; and so far theillness had persisted on average for five years. Nonegave a family history of a similar illness.

BLEPHAROSPASM ALONE

The 13 patients with blepharospasm all presented withspasms of contraction of orbicularis oculi causing eyeclosure. Such spasms sometimes started in one eyeonly, but both eyes were affected eventually. Typicallythe spasms occurred only occasionally to begin with,

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Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome)

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FIG. 1 'De Gaper', by Pieter Brueghel, The Elder (c.1525-1569). (By permission of Musees Royaux desBeaux-Arts, Bruxelles.)

but became more frequent and prolonged with time.They might last from a few seconds to as long as 20minutes or so, and could occur as frequently as every15 to 20 seconds. Many of these patients were ren-

dered functionally blind, and could not leave thehouse or cross the road. The spasms were provokedcharacteristically by bright sunlight (many wore darkglasses), watching television or reading, embarrass-ment, and fatigue. Many patients had discovered

tricks to open the eyes, including forced jaw opening,yawning, neck extension, or prising them open withthe fingers. Many developed a secondary blepharitisdue to the spasms. Power of eye closure was normalin all, as were lid and external ocular movements.

Six patients were depressed before and at the onsetof their blepharospasm, but seven were in normalpsychiatric health. Two of the latter had local eyeconditions at the onset, a conjunctivitis in one and aMeibomian cyst in the other, but the remainder hadno physical illness.

BLEPHAROSPASM WITH OROMANDIBULAR DYSTONIA

Blepharospasm and oromandibular dystonia co-existed in 17 patients. In 13 the two dyskinesiasappeared at the same time; in four blepharospasmantedated oromandibular dystonia by one to threeyears. The blepharospasm was identical with thatoccurring in the first group of patients described withthat dyskinesia alone.The oromandibular dystonia varied in its clinical

manifestations, but in all cases consisted of spasms ofthe muscles of the face and jaw, and sometimes thetongue. The spasms lasted for up to a minute, andwere often repetitive but irregular in timing. Theycould occur spontaneously, but often appeared ontalking or chewing, at least initially. Thejaw might beforced open and the lips retracted with spasm ofplatysma, and the tongue protruded. One patientsuffered recurrent dislocation of the jaw, and inanother the spasms of jaw opening were strongenough repeatedly to snap misconceived dentalwiring. In other patients, the spasms would forciblyclose the jaw and the lips would purse like a fish(Fig. 2). Such spasmodic jaw closure caused lacera-tion of the lips and tongue and spasms of the jaw,mouth, and tongue led to inability to wear dentures,chew or even to speak clearly. Thirteen of the 17patients had difficulty in speaking, while five haddifficulty in swallowing. Voluntary movements of theface, jaw, tongue, and palate were of normal strength

.BLEBLEPHAROSPASM-OROMANDIBULAR DYSTONIA SYNDROME

Patients Age at onset Duration Progression to(no.) (range yr) (range yr) Male:Female dystonia elsewhere

Blepharospasm alone 13 57 (41-71) 4 (1-14) 5:8 Nil

Blepharospasm withoromandibulardystonia 17 57 (41-71) 5 (1-12) 8:9 8

Oromandibulardystonia alone 9 54 (37-72) 7 (1-28) 1:8 Nil

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C. D. Marsden

FIG. 2 Blepharospasm and spasm ofjaw closure andmouth-pursing in a 61 year old lady with symptomsforthree years.

and rapidity, but such attempted movements fre-quently provoked muscular spasms.

Five of the 17 patients were depressed before and atthe onset ofthe illness, but the other 12 were in normalpsychiatric health. Three similar patients have beendescribed by Paulson (1972).

OROMANDIBULAR DYSTONIA ALONE

Nine patients had isolated oromandibular dystonia,with spasms of mouth and jaw closure in five and ofmouth and jaw opening in four. Contractions of thelower perioral facial muscles and platysma accom-

panied thejaw spasms in all patients, but the eyes werespared. The oromandibular dystonia in these patientswas similar to that seen in those with blepharospasmas well. In seven patients the jaw would open forciblywith mouth retraction, and sometimes tongue pro-trusion (Fig. 3). In the remaining two patients thespasms were ofjaw closure and mouth pursing. Speechwas affected in all, and the initial difficulty was con-fined to muscle spasms on speaking in four patientsand on singing in one. One patient could not speakwithout developing spasms ofjaw opening but could

FIG. 3 Spasm ofjaw opening and mouth retraction ina 65 year old lady with symptoms forfour years.

sing normally. Another initially developed spasms ofjaw clenching on singing high notes but could speaknormally. Both subsequently developed spontaneousmuscle spasms of the jaw and mouth. All haddifficulty in eating and four had difficulty inswallowing.

Three were depressed before and at the onset oftheir illness, but six were in normal psychiatric health.Two similar patients have been described by Altrocchi(1972).

COURSE OF ILLNESS

The duration of the illness varied from one to 28 years(Table). None of the patients with isolated blepharo-spasm developed dystonia elsewhere. Two of thepatients with oromandibular dystonia but notblepharospasm presented initially with dystoniaelsewhere. In one, the initial complaint was of retro-collis, followed by retraction of the lips and jawclenching three years later; in the other, a dystonicwriter's cramp of both arms was followed by spasmsof jaw opening and inspiration some 10 years later(Fig. 4). The other seven patients with oromandibulardystonia without blepharospasm had no dystoniaelsewhere.

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Blepharospasm-oromnandibular dystonia syndrome (Brueghel's syndrome)

FIG. 4 Spasm ofjaw opening, withdystonic posturing of left arm andspasms offlexion of right fingers in a65 year old man. His illness startedwith dystonic writer's cramp, whichwas followed 10 years later by theoromandibular dystonia.

Eight of the 17 patients with both blepharospasmand oromandibular dystonia developed dystoniaelsewhere. In three of these patients spasms of therespiratory muscles occurred within one to seven

years of the onset; these usually consisted of spasmsof inspiration accompanying jaw opening or closureand eye closure. One man developed torticollis withretrocollis and spasms ofthe respiratory muscles some18 months after the onset of the blepharospasm andoromandibular dystonia. Two women developedantecollis and another developed flexion spasms ofthetrunk within three years of the onset. Another womandeveloped torticollis with the chin turned to the left,and tremor and dystonic posturing of the left arm18 months after the onset.None of the 39 patients developed intellectual,

pyramidal, cerebellar, or sensory deficits. Nor didthey exhibit akinesia or rigidity (in the absence ofdrugs). None had fits.

INVESTIGATIONS

No consistent abnormality was found in these patientson investigation. Skull radiographs, brain scan,electroencephalogram, cerebrospinal fluid examina-tion, serology, plasma calcium and copper studieswere normal when undertaken.

TREATMENT

Many therapeutic avenues have been explored. Nonecured the illness, and no spontaneous remissions wereobserved. The following groups of drugs have beentried: benzodiazepines (including clonazepam), tri-

cyclic antidepressants, monoamine oxidase inhibitors,anticholinergics, amantadine, levodopa, dexamphet-amine, tetrabenazine, reserpine, phenothiazines,butyrophenones, pimozide, carbamazepine, barbitu-rates, tryptophan, and 5-hydroxytryptophan withcarbidopa. Most were quite ineffective. Anticholin-ergics and benzodiazepines gave a little relief, whiledrugs acting by dopamine receptor blockade (reser-pine, tetrabenazine, phenothiazines, butyrophenones,and pimozide) sometimes helped the oromandibulardystonia but not the blepharospasm, often at theexpense of unacceptable drug-induced Parkinsonism.Successful treatment of any accompanying depressiveillness allowed the patients to tolerate their disabilitymore readily but did not cure the movement disorder.One patient required surgical division of crico-

pharyngeus to relieve severe dysphagia, and twopatients with blepharospasm had undergone surgicalsection of the upper branches of the facial nerve toparalyse orbicularis oculi, with partial success. Nonehad been submitted to stereotaxic thalamotomy.

Individual patients had undertaken behaviouraltherapy, aversion therapy, psychotherapy, hypnosis,and acupuncture, but with no cure. As in the case ofsuccessful treatment for depression, techniques aimedat adjusting the individual's reaction to the illnessallowed it to be borne with less distress.

DISCUSSION

I would draw three main conclusions from these data:(1) blepharospasm and oromandibular dystonia are

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C. D. Marsden

manifestations of a single illness or syndrome; (2)this is a physical illness, not a manifestation of apsychiatric disorder; (3) this syndrome is related toidiopathic torsion dystonia-hence the title'blepharospasm-oromandibular dystonia syndrome'.

This group of patients represents a consecutiveseries referred for neurological opinion. The fact that17 of the 39 cases had both blepharospasm andoromandibular dystonia strongly hints at theircommon origin. Blepharospasm, or oromandibulardystonia when it occurred alone, was clinicallyidentical with that seen when the two appearedtogether. The conclusion is that blepharospasm andoromandibular dystonia have a common patho-physiological basis.To prove rigorously that a physical complaint is

due to a psychiatric illness (ofmood or thought), it isnecessary to show that such an illness is present at theonset of the physical disorder, that it persists if thephysical disorder continues, and that the physicaldisorder remits if the psychiatric condition is cured.Fourteen of the 39 patients were depressed at theonset of the illness, but 25 were judged not to be so.Others became depressed or anxious because of theirphysical illness, but at least 10 stalwart and robustindividuals withstood their physical disability with-out mood change. Treatment of any additionaldepression did not cure the physical illness. On thesegrounds I would not consider the blepharospasm-oromandibular dystonia syndrome as due to psychi-atric disability. (However, psychiatric treatment maybe necessary and rewarding in an otherwise intractablecondition.)

If the syndrome is due to a physical disorder, whatare the clues to its origin ? Evidence exists to attributeit to a disorder of the basal ganglia. Thus blepharo-spasm and oromandibular dystonia were caused byencephalitis lethargica, and blepharospasm occurs inParkinson's disease. I have seen both provoked byneuroleptic drugs, such as phenothiazines or butyro-phenones. The typical facial movements ofthe chronictardive dyskinesia caused by neuroleptics consist ofchoreiform chewing, lip smacking, tonguing, andlicking (the classical orofacial dyskinesia). However,on occasions I have seen the more prolonged andrepetitive spasms of contraction of mouth and jawmuscles that characterise oromandibular dystonia,and also typical blepharospasm, in such drug-treatedpatients. Drug-induced chronic tardive dyskinesiasare believed to be due to the effect of neuroleptics ondopamine receptors in the corpus striatum (cf.Marsden et al., 1975). I have also seen blepharospasmand oromandibular dystonia in some patients withathetoid cerebral palsy and other conditions causingsymptomatic torsion dystonia in which the patho-physiological basis of the motor disorder is believed

to be lesions in the basal ganglia. The tentative con-clusion is that the idiopathic blepharospasm-oromandibular dystonia syndrome is due to abnormalfunction of the basal ganglia or some other extra-pyramidal centre.The characteristics of the muscular spasms in the

disorder, their prolonged duration, their repetitivepattern but irregular timing, and their provocation byvoluntary action are typical of the abnormal mus-cular spasms of torsion dystonia. Classical idiopathictorsion dystonia or dystonia musculorum deformansis a disease of childhood and adolescence, ofteninherited, with onset of dystonic muscular spasms inlegs, arms, or neck, and usually progression togeneralised involvement with severe disability. Asimilar illness occurs in adults, but differs in that it israrely inherited, the arms and axial muscles are almostalways first involved, and progression to involve otherbody parts is limited (Marsden etal., 1976). Blepharo-spasm-oromandibular dystonia syndrome resemblesadult-onset idiopathic torsion dystonia in all theserespects, and resembles other focal dystonias whichmay represent isolated manifestations of adult-onsettorsion dystonia, such as spasmodic torticollis anddystonic writer's cramp (cf. Marsden, 1976a, b, fordiscussion ofthe evidence to suggest that these entitiesare focal dystonias). The peak age of onset of adultidiopathic torsion dystonia, torticollis, and dystonicwriter's cramp in the fifth decade of life is close to thatof blepharospasm-oromandibular dystonia syn-drome. Blepharospasm and oromandibular dystoniaoccurred in 9% and 43% of 47 typical cases of idio-pathic torsion dystonia with onset in childhood(Marsden etal., 1976). In the present series ofpatients,a minority presented with, or subsequently developed,torticollis or dystonic writer's cramp. All the evidencepoints to the conclusion that blepharospasm-oromandibular dystonia syndrome is another mani-festation of adult-onset torsion dystonia, and that it isa focal dystonia akin to spasmodic torticollis anddystonic writer's cramp.As to its fundamental cause or causes, there is no

information. No pathological or biochemical exam-ination of the brain in such cases has been reportedand there is an urgent need for such studies.

I am grateful to the many colleagues who havereferred these patients to me, particularly to Dr R. T.C. Pratt for his comments on the manuscript, and toDr G. W. Paulson for drawing my attention toMeige's original description.

REFERENCES

Altrocchi, P. H. (1972). Spontaneous orofacial dyskinesia.Archives ofNeurology (Chic.), 26, 506-512.

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Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome)

Marsden, C. D. (1976a). The problem of adult-onsetidiopathic torsion dystonia and other isolated dys-kinesias in adult life. In Dystonia. Advances in Neurology,vol. 14, pp. 259-276. Edited by R. Eldridge and S. Fahn.Raven Press: New York.

Marsden' C. D. (1976b). Dystonia-the spectrum of thedisease. In The Basal Ganglia. Association for Researchin Nervous and Mental Disease, pp. 351-367. Editedby M. D. Yahr. Raven Press: New York.

Marsden, C. D., Harrison, M. J. G., and Bundey, S. (1976).The natural history of idiopathic torsion dystonia. InDystonia. Advances in Neurology, vol. 14, pp. 177-186.

Edited by R. Eldridge and S. Fahn. Raven Press: NewYork.

Marsden, C. D., Tarsy, D., and Baldessarini, R. J. (1975).Spontaneous and drug-induced movement disorders inpsychotic patients. In Psychiatric Aspects of NeurologicDisease, pp. 219-265. Edited by D. F. Benson and D.Blumer. Grune and Stratton: New York.

Meige, H. (1910). Les convulsions de la face, une formeclinique de convulsion faciale, bilaterale et mediane.Revue Neurologique (Paris), 20,437-443.

Paulson, G. W. (1972). Meige's syndrome. Dyskinesia ofthe eyelids and facial muscles. Geriatrics, 27, 69-73.

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