In 1910, Henry Meige described the movement
disorder more recently termed "Brueghel's syndrome" or
oral mandibular dystonia and blepharospasm.
Meige was born in Moulin, France, over 100 years ago.
His medical training was in Paris, and he was one of
Charcot's last interns. Unlike his contemporaries,
Babinski and Tourette, Meige eschewed the controversial,
demanding "concours" or publie competitions for academic
tenure at the Faculty of Medicine. Instead, he dedicated
himself to research in clinical neurology and art. His
work with Brissaud led him to focus on involuntary
movements. Tics and Their Treatment, an enduring work by
Meige and Feindel, was later translated by Wilson. Other
writings of Meige dealt with hysteria, neurasthenia,
gigantism, and the autonomic changes associated with
nerve injuries. Guided by Richer, his artistic capacities
developed, and these remain well displayed in the
Nouvelle Iconographie de la Salpêtrière.
Meige succeeded Richer as professor of anatomy at the
Ecole des Beaux Arts.
In our efforts to better understand and treat movement
disorders, the syndrome of Meige continues to attract our
attention.
Idiopathic blepharospasm is well recognised,
but idiopathic oromandibular dystonia is not.
The latter consists of prolonged spasms of
contraction of the muscles of the mouth and jaw.
These dystonic movements appear to be distinct
from the chewing, lip smacking, and tongue
rolling choreiform movements that characterise
the more familiar orofacial dyskinesia.
Orofacial dyskinesia, whether drug-induced or
spontaneous in origin, is not discussed further
in this paper.
Both blepharospasm and oromandibular dystonia
may occur in patients with known diseases of the
basal ganglia such as those that cause
symptomatic torsion dystonia, or may be produced
by neuroleptic drugs. They may present also as
isolated dyskinesias in 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 these conditions,
and the data they afford lead to the conclusion
that they are diseases which may be focal
manifestations of the syndrome of adult-onset
torsion dystonia.
Idiopathic blepharospasm and oromandibular
dystonia may occur separately or together. Hence
the suggested title 'blepharospasm-oromandibular
dystonia syndrome', which may have been
described first by Meige
(1910). However,I am grateful to Dr R. E.
Kelly for pointing out that Pieter Brueghel The
Elder, clearly recognised the syndrome. More
recently Altrocchi (l 972) described two
patients with isolated oromandibular dystonia,
and Paulson (1972) reported three patients with
blepharospasm and oromandibular dystonia.
Case material
All the patients to be described were in
normal health at the onset of their illness,
were taking no drug known to provoke dyskinesias
at that time, and had no other neurological or
mental deficit. I have seen 13 patients with
isolated idiopathic blepharospasm, 17 with both
blepharospasm and oromandibular dystonia, and
nine with isolated idiopathic oromandibular
dystonia. In all three conditions, women were
more frequendy affected than men (25 females, 14
males); the peak age of onset was in the sixth
decade; and so far the illness had persisted on
average for five years. None gave a family
history of a similar illness.
BLEPHAROSPASM ALONE The 13 patients
with blepharospasm all presented with spasms of
contraction of orbicularis oculi causing eye
closure. Such spasms sometimes started in one
eye only, but both eyes were affected
eventually. Typically the spasms occurred only
occasionally to begin with but became more
frequent and prolonged with tinie. They might
last from a few seconds to as long as 20 minutes
or so, and could occur as frequently as every 15
to 20 seconds. Many of these patients were
rendered functionally blind, and could not leave
the house or cross the road. The spasms were
provoked characteristically by bright sunlight
(many wore dark glasses), watching television or
reading, embarrassment, and fatigue.
Many patients had
discovered tricks to open the eyes, including
forced jaw opening, yawning, neck
extension, or prising thern open with
the fingers. Many developed a secondary
blepharitis due to the spasms. Power of eye
closure was normal in all, as were fid and
external ocular movements.
Six patients were depressed before and at the
onset of their blepharospasm, but seven were in
normal psychiatric health. Two of the latter had
local eye conditions at the onset, a
conjunctivitis in one and a Meibomian cyst in
the other, but the remainder had no physical
illness.
BLEPHAROSPASM WITH OROMANDIBULAR DYSTONIA
Blepharospasm and oromandibular dystonia
coexisted in 17 patients. In 13 the two
dyskinesias appeared at the same time; in four
blepharospasm antedated oromandibular dystonia
by one to three years. The blepharospasm was
identical with that occurring in the first group
of patients described with that dyskinesia
alone.
The oromandibular dystonia varied in its
clinical manifestations, but in all cases
consisted of spasms of the muscles of the face
and jaw, and sometimes the tongue. The spasms
lasted for up to a minute, and were often
repetitive but irregular in timing. They could
occur spontaneously, but often appeared on tal
king or chewing, at least initially. Thejaw
might be forced open and the lips retracted with
spasm of platysma, and the tongue protruded. One
patient suffered recurrent dislocation of the
jaw, and in another the spasms of jaw opening
were strong enough repeatedly to snap
misconceived dental wiring. In other patients,
the spasms would forcibly close the jaw and the
lips would purse like a fish (Fig. 2). Such
spasmodic jaw closure caused laceration 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
17 patients had difficulty in speaking, while
five had difficulty in swallowing. Voluntary
movements of the face, jaw, tongue, and palate
were of normal strength and rapidity, but such
attempted movVrnents frequently provoked
muscular spasms.
Five of the 17 patients were depressed before
and at the onset of the illness, but the other
12 were in normal psychiatric health. Three
similar patients have been described by Paulson
(1972).
OROMANDIBULAR DYSTONIA ALONE Nine
patients had isolated oromandibular dystonia,
with spasms of mouth and jaw closure in five and
of mouth and jaw opening in four. Contractions
of the lower perioral facial muscles and
platysma accompanied the jaw spasms in all
patients, but theeyes were spared. The
oromandibular dystonia in these patients was
similar to that seen in those with blepharospasm
as well. In seven patients the jaw would open
forcibly with mouth retraction, and sometimes
tongue protrusion (Fig. 3). In the remaining two
patients the spasms were of jaw closure and
mouth pursing. Speech was affected in all, and
the initial difficulty was confined to muscle
spasms on speaking in four patients and on
singing in one. One patient could not speak
without developing spasms of jaw opening but
could sing normally. Another initially developed
spasms of jaw clenching on singing high notes
but could speak normally. Both subsequently
developed spontaneous muscle spasnis of the jaw
and rnouth. All had difficulty in eating and
four had difficulty in swallowing. Three were
depressed before and at the onset of their
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. None of the
patients with isolated blepharospasm developed
dystonia elsewhere. Two of the patients with
oromandibular dystonia but not blepharospasm
presented initially wilh dystonia elsewhere. In
one, the initial complaint was of retrocollis,
followed by retraction of the lips and jaw
clenching three years later; in the other, a
dystonie writer's cramp of both arms was
followed by spasms of jaw opening and
inspiration sorne 10 years later. The other
seven patients with oromandibular dystonia
without blepharospasm had no dystonia
elsewhere.
Eight of the 17 patients with both
blepharospasm and oromandibular dystonia
developed dystonia elsewhere. In three of these
patients spasms of the respiratory muscles
occurred within one to seven years of the onset;
these usually consisted of spasms of inspiration
accompanying jaw opening or closure 4 and eye
closure. One man developed torticollis with
retrocollis and spasms of the respiratory
muscles some 18 months after the onset of the
blepharospasm and oromandibular dystonia. Two
women developed antecollis and another developed
flexion spasms of the trunk within three years
of the onset. Another woman developed
forticollis with the chin turned to the left,
and tremor and dystonic posturing of the left
arni 18 months after the onset. None of the 39
patients developed intellectual, pyramidal,
cerebellar, or sensory deficits. Nor did they
exhibit akinesia or rigidity (in the absence of
drugs). None had fits.
INVESTIGATIONS No consistent
abnormality was found in these patients on
investigation. Skull radiographs, brain scan,
electroencephalogram, cerebrospinal fluid
examination, serology, plasma calcium and copper
studies were normal when undertaken.
TREATMENT Many therapeutic avenues
have been explored. None cured the illness, and
no spontaneous remissions were observed. The
following groups of' drugs have been tried:
benzodiazepines (including clonazepam),
tri-cyclic antidepressants, monoamine oxidase
inhibitors, anticholinergics, amantadine,
levodopa, dexamphetamine, tetrabenazine,
reseipine, phenothiazines, butyrophenones,
pimozide, carbamazepine, barbiturates,
tryptophan, and 5-hydroxytryptophan with
carbidopa. Most were quite ineffective.
Anticholinergics and benzodiazepines gave a
little relief, while drugs acting by dopamine
receptor blockade (reserpine, tetrabenazine,
phenothiazines, butyrophenones, and pimozide)
sometimes helped the oromandibular dystonia but
not the blepharospasm, often at the expense of
unacceptable drug-induced Parkinsonism.
Successful treatment of any accompanying
depressive illness allowed the patients to
tolerate their disability more readily but did
not cure the movement disorder.
One patient required surgical division of
cricopharyngeus to relieve severe dysphagia, and
two patients with blepharospasm had undergone
surgical section of the upper branches of the
facial nerve to paralyse orbicularis oculi, with
partial success. None had been submitted to
stereotaxic thalamotomy.
Individual patients had undertaken
behavioural therapy, aversion therapy,
psychotherapy, hypnosis, and acupuncture, but
with no cure. As in the case of successful
treatment for depression, techniques aimed at
adjusting the individuai's reaction to the
illness allowed it to be borne with less
distress.
DISCUSSION I would draw three main
conclusions from these data: (1) blepharospasm
and oromandibular dystonia are manifestations of
a single illness or syndrome; (2) this is a
physical illness, not a manifestation of a
psychiatric disorder; (3) this syndrome is
related to idiopathic torsion dystonia-hence the
title 'blepharospasm-oromandibular dystonia
syndrome'.
This group of patients represents a
consecutive series referred for neurological
opinion. The fact that 17 of the 39 cases had
both blepharospasrn and oromandibular dystonia
strongly hints at their common origin.
Blepharospasm, or oromandibular dystonia when it
occurred alone, was clinically identical with
that seen when the two appeared together. The
conclusion is that blepharospasm and
oromandibular dystonia have a common
pathophysiological basis.
To prove rigorously that a physical complaint
is due to a psychiatric illness (of mood or
thought), it is necessary to show that such an
illness is present at the onset of the physical
disorder, that it persists if the physical
disorder continues, and that the physical
disorder remits if the psychiatric condition is
cured. Fourteen of the 39 patients were
depressed at the onset of the illness, but 25
were judged not to be so. Others became
depressed or anxious because of their physical
illness, but at least 10 stalwart and robust
individuals withstood their physical disability
without mood change. Treatment of any additional
depression did not cure the physical illness. On
these grounds I would not consider the
blepharospasm oromandibular dystonia syndrome as
due to psychiatric disability. (However,
psychiatric treatment may be necessary and
rewarding in an otherwise intractable
condition.)
If the syndrome is due to a physical
disorder, what are the clues tu its origin ?
Evidence exists to attribute it to a disorder of
the basal ganglia. Thus blepharospasm and
oromandibular dystonia were caused by
encephalitis lethargica, and blepharospasm
occurs in Parkinson's disease. I have seen both
provoked by neuroleptic drugs, such as
phenothiazines or butyrophenones. The typical
facial movements of the chronic tardive
dyskinesia caused by neuroleptics consist of
choreiform chewing, lip smacking, tonguing, and
licking (the classical orofacial dyskinesia).
However, on occasions I have seen the more
prolonged and repetitive spasms of contraction
of mouth and jaw muscles that characterise
oromandibular dystonia, and also typical
blepharospasm, in such drug-treated patients.
Drug-induced chronic tardive dyskinesias are
believed to be due to the effect of neuroleptics
on dopamine receptors in the corpus striatum
(cf. Marsden et al., 1975). I have also seen
blepharospasm and oromandibular dystonia in some
patients with athetoid cerebral palsy and other
conditions causing symptomatic torsion dystonia
in which the pathophysiological basis of the
motor disorder is believed to be lesions in the
basal ganglia. The tentative conclusion is that
the idiopathic blepharospasm
oromandibulardystonia syndrome is due to
abnormal function of the basal ganglia or some
other extrapyramidal centre.
The characteristics of the muscular spasms in
the disorder, their prolonged duration, their
repetitive pattern but irregular timing, and
their provocation by voluntary action are
typical of the abnormal muscular spasms of
torsion dystonia. Classical idiopathic torsion
dystonia or dystonia musculorurn deformans is a
disease of childhood and adolescence, often
inherited, with onset of dystonic muscular
spasms in legs, arms, or neck, and usually
progression to generalised involvement with
severe disability. A similar illness occurs in
adults, but differs in that it is rarely
inherited, the arms and axial muscles are almost
always first involved, and progression to
involve other body parts is limited (Marsden et
al., 1976). Blepharospasm-oromandibular dystonia
syndrome resembles adult-onset idiopathic
torsion dystonia in all these respects, and
resembles other focal dystonias which may
represent isolated manifestations of adult-onset
torsion dystonia, such as spasmodic torticollis
and dystonic writer's cramp (cf. Marsden, 1976a,
b, for discussion of the evidence to suggest
that these entities are focal dystonias). The
peak age of onset of aduit idiopathic torsion
dystonia, torticollis, and dystonic writer's
cramp in the fifth decade of life is close to
that of blepharospasm-oromandibular dystonia
syndrome. Blepharospasm and oromandibular
dystonia occurred in 9 % and 43 %, of 47 typical
cases of idiopathic torsion dystonia with onset
in childhood (Marsden et al., 1976). In the
present series of patients, a minority presented
with, or subsequently developed, torticollis or
dystonic writers cramp. All the evidence points
to the conclusion that blepharospasm
oromandibular dystonia syndrome is another
manifestation of adult-onset torsion dystonia,
and that it is a focal dystonia akin to
spasnmdic torticollis and dystonic writer's
cramp.
As to its fundamental cause or causes, there
is no information. No pathological or
biochemical examination of the brain in such
cases has been reported and there is an urgent
need for such studies.
REFERENCES
Altrocchi, P. H. (1972). Spontaneous
orofacial dyskinesia Archives of Neurology
(Chic.), 26, 506-512.
Marsden, C. D. (1976a). The problem of
adult-onset idiopathic torsion dystonia and
other isolated dyskinesias 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
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Raven Press: New York.
Marsden, C. D., Harrison, M. J. G., and
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Marsden, C. D., Tarsy, D., and Baldessarini,
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