Available via license: CC BY 4.0
Content may be subject to copyright.
Case Reports
Sudden Onset of Oromandibular Dystonia after Cerebellar Stroke
Alper Akin, Rezzak Yilmaz*, Ferda Selcuk & M. Cenk Akbostancı
Department of Neurology, School of Medicine, Ankara University, Ankara, Turkey
Abstract
Background: We present the case of a 65-year-old female with sudden-onset involuntary mouth opening, deviation of the jaw, facial grimacing, and tongue
movements that started 6 months prior to her admission.
Case Report: She was diagnosed with oromandibular dystonia. Differential diagnosis of oromandibular dystonia and various etiologies were investigated.
Neuroimaging studies revealed a left cerebellar infarction.
Discussion: To our knowledge, this case is the first oromandibular dystonia presenting with cerebellar ischemic stroke. Possible roles of the cerebellum for the
pathophysiology of oromandibular dystonia are discussed.
Keywords: Dystonia, oromandibular dystonia, cerebrovascular disease
Citation: Akin A, Yilmaz R, Selcuk F, et al. Sudden onset of oromandibular dystonia after cerebellar stroke. Tremor Other Hyperkinet Mov. 2014; 4. doi: 10.
7916/D8C24TN3
* To whom correspondence should be addressed. E-mail: rezzakyilmaz@yahoo.com
Editor: Elan D. Louis, Columbia University, USA
Received: June 26, 2014 Accepted: August 19, 2014 Published: October 28, 2014
Copyright: ’2014 Akin et al. This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License, which permits
the user to copy, distribute, and transmit the work provided that the original author(s) and source are credited; that no commercial use is made of the work; and that the work is not altered
or transformed.
Funding: None.
Financial Disclosures: C.A.: Consultancies: Bohringer Ingelheim, Lundbeck, Abbvie, Medtronic; Honoraria: Abbott, Abdi Ibrahim, Allergan, Bohringer Ingelheim, Gen Ilac¸,
Generica, Glaxo Smith Kline, Medtronic, Lundbeck, Novartis, Ilko, Santa Farma.
Conflict of Interest: The authors report no conflict of interest.
Introduction
Oromandibular dystonia (OMD) is a cranial segmental dystonia of
the lips, jaw, and tongue, causing involuntary mouth closure or
opening, deviation of the jaw, tongue movements, or any combination
of these due to repetitive or sustained spasms of masticatory, facial, or
lingual muscles. OMD is the most frequent cranial dystonia after
blepharospasm
1
and can occur in isolation or appear together with
other forms of craniocervical dystonia.
2
Although drug-induced, post-
anoxic, neurodegenerative disorder-associated, and head injury-
associated etiologies have been reported, the cause of OMD is
unknown in the majority of patients. Other types of dystonia associated
with cerebellar disease are known,
3–5
but reports of OMD related to
cerebellar stroke are rare.
6
We present a case of OMD following a
cerebellar ischemic stroke.
Case Report
A 65-year-old female was admitted because of involuntary mouth
and tongue movements. She reported a sudden onset of gait problems
accompanying these abnormal movements beginning 6 months prior
to her referral. Her medical history revealed hypertension and diabetes
mellitus. Her medication history was unremarkable for dystonia. She
had no history of consanguineous marriage and she had seven first-
degree relatives who had never experienced any neurological disease.
On neurological examination she exhibited deviation of the jaw to the
left, right, or front, or a combination of these, together with lingual and
perioral dystonia (Video 1). These movements were more pronounced
during speech and chewing. The dystonic movements diminished with
oral sensory feedback, such as holding a toothpick in her mouth. Her
left upper and lower extremities were dysmetric and dysdiadochoki-
netic. She had slightly hyperactive deep tendon reflexes on the left side
and her gait was ataxic. Her psychiatric examination was normal. Her
complete blood count and biochemical tests were normal, except for
high blood sugar levels (250 mg/dL) and hyperlipidemia (low-density
lipoprotein: 176 mg/dL). Tests for ferritin, folate, and vitamin B12
levels were normal. She had high blood pressure (175/90 mm/Hg).
Magnetic resonance imaging (MRI) showed chronic anterior inferior
cerebellar artery infarction (Figure 1). Wilson’s disease was excluded
as the Kayser–Fleischer ring was not seen on ophthalmologic
Freely available online
Tremor and Other Hyperkinetic Movements
http://www.tremorjournal.org
The Center for Digital Research and Scholarship
Columbia University Libraries/Information Services
1
examination and the ceruplasmin value was normal (24.3 mg/dL). Her
peripheral blood smear was normal. She was treated with electro-
myographically guided botulinum toxin-A injections (BotoxH), with 10
units to both masseter muscles, 5 to both digastric muscles, 15 to both
lateral pterygoidei muscles, and 5 units to the platysma muscles, which
provided moderate benefit.
Discussion
For decades, dystonia was thought to be a disorder of the basal
ganglia.
7
However, along with the basal ganglia, the cerebellum has
been shown to contribute to the pathophysiology of dystonia.
8
This
contribution has been demonstrated in several imaging and molecular
studies, most of which were focused on primary dystonia, shedding
light on the mechanism of the dystonic phenomenon.
The problem underlying the dystonic phenomenon is now under-
stood at the circuit level, namely the cerebello-thalamo-cortical
network.
9
In macaques, the link between the dentate nucleus and
the striatum was shown by histological tract tracing.
10
Another study
showed a return pathway from the basal ganglia to the cerebellum.
11
Aberrant cerebellar activities in dystonic animals and decrease in
dystonia with the removal of the cerebellum in rats have been
reported.
12
In humans, the modulation of cortical excitability by cerebellar
outputs via the basal ganglia-thalamo-cortical network has been
shown.
13
The GABAergic inhibition in the primary motor cortex by
the cerebello-thalamo-cortical network may be deficient in dystonia. It
has been proposed that cerebellar outputs alter basal ganglia activity,
leading to dystonic movements.
14
Moreover, changes of striatal
dopamine levels with cerebellar stimulation
8
and loss of cerebellar
Purkinje cells in adult-onset primary focal dystonia have been shown.
15
Furthermore, reduction in the connection between the cerebellum and
the thalamus and microstructural abnormalities in the vicinity of the
superior cerebellar peduncle have been reported in DYT mutation
carriers.
16
All of these reports favor the connection of the cerebello-
thalamo-cortical and basal ganglia-thalamo-cortical networks in both
animals and humans.
The cerebellum is thought to be responsible for processing
proprioceptive information and changing the somatosensory thresh-
olds in the cortex.
17
In this sense, dystonia may be the result of the
abnormal inhibition and plasticity of sensorimotor pathways.
8
Indeed,
lack of inhibition, sensory dysfunction, and abnormal plasticity may all
be major causes of the dystonic phenomena.
18
Detection of increased
metabolism in the cerebellum and dorsal midbrain using fluorodeox-
yglucose positron emission tomography in dopa-responsive dystonia
supports this notion.
19
A study with voxel-based morphometry also
found increased gray matter volume in the cortex, basal ganglia, and
cerebellum in idiopathic cervical dystonia.
20
Studies showing the relationship between cerebellar disease and
OMD have been reported.
3,4
Although the cause is not known in the
majority of cases, there are some cases induced by drugs, anoxia,
cerebellopontine angle meningioma, or cerebrotendinous xanthoma-
tosis.
21,22
On the other hand, OMD related to a cerebellar stroke has
only been reported once: a case of late-onset OMD following a
cerebellar hemorrhage.
6
Such late-onset dystonia following an event
has been attributed to maladaptive plasticity. Waln and LeDoux
6
noted the slow development of reorganization leading to super-
sensitivity and abnormal rewiring within the cerebellar nuclei. These
reports are in accordance with the concept about abnormal plasticity.
Figure 1. T1 and T2 Images. The images show chronic anterior inferior cerebellar artery infarction.
Video 1. Patient with Oromandibular Dystonia. The video shows
repetitive contractions of jaw, tongue, and perioral muscles in our patient.
Akin A, Yilmaz R, Selcuk C, et al. Oromandibular Dystonia
Tremor and Other Hyperkinetic Movements
http://www.tremorjournal.org
The Center for Digital Research and Scholarship
Columbia University Libraries/Information Services
2
We herein report a case of OMD due to ischemia of the cerebellum.
To our knowledge, this case is the first report of OMD following a
cerebellar ischemic stroke. We argue that acute ischemia might have
caused disruption of the output from Purkinje cells, resulting in the loss
of GABAergic inhibition of the motor cortex via the cerebello-
thalamo-cortical network.
By the time our patient was admitted, it was already 6 months since
the beginning of the dystonic movements. She asserted that her
dystonia and ataxia started simultaneously. As we had not followed the
patient from the beginning, the possibility of other etiologies also
needed to be discussed; in our clinical and laboratory work-up, we
could find no evidence in favor of neurodegeneration. A review of the
prescription, her family history, and other neuropsychiatric features,
together with MRI and blood tests, enabled us to exclude drug-
induced, heredodegenerative dystonia and dystonia-plus syndromes.
The main shortcoming was that we could not perform a genetic
analysis in this case. However, we thought that a diagnosis of primary
dystonia was unlikely in our patient, considering her overall radiologic
and clinical picture. She had a sudden-onset focal dystonia without a
tendency for generalization. Her age was even higher than that for
late-onset primary dystonia-like DYT 7 or 13.
23
Moreover, apparent
evidence for brain injury and additional cerebellar symptoms strongly
suggested secondary dystonia as a diagnosis for our case.
A remarkably unusual point in our case is the instant onset of
dystonia following the stroke. It raises a possibility that the lesion and
the dystonia may be unrelated. In that case, our patient would fall into
a category of late-onset primary focal dystonia, which we believe
unlikely for the reasons we have discussed above (particularly with
sudden and simultaneous onset with other cerebellar stroke signs).
Generally, one would expect dystonia to appear later on, due to the
process of maladaptive plasticity, ranging from months to years.
24
However, although rare, it may appear in a much shorter time, such as
in days.
25,26
Moreover, Scott and Jankovic
24
reported that the older
the patient, the shorter the latent period between the cause and the
dystonia.
Nevertheless, we were cautious about believing our patient’s
assertion, since it had been 6 months from the beginning of the
symptoms. If we assumed a latent period for dystonia in our patient, it
still had to be a very short period. We lost contact with the patient after
her discharge, so we are unable to confirm this statement or re-
examine her. We believe that lack of latency for dystonia in our patient
indicates that slow processes such as maladaptive plasticity or
reorganization are unlikely as causes of OMD.
Cerebellar diseases related with dystonia vary broadly in etiology
but less in the clinical outcome. Rumbach et al.
3
reported a case with
hemidystonia due to infarction of the posterior and superior cerebellar
arteries. This case had a similar but larger infarct than our case. One
might argue that our case could have a more generalized dystonia, if
she had had a larger lesion. Also, Alarco´n et al.
4
reported a central
mass of the cerebellum with upper limb dystonia. In our patient,
however, the lesion was more lateral. Our patient’s dystonia was in the
mouth and tongue, which were anatomically in accordance with the
cerebellar homonculus.
27
The cellular pathophysiology of ataxia and dystonia seems to be
different. Lehe´ricy et al.
28
proposed that dystonia may be caused by
dysfunction of the cerebellum, whereas ataxia is the result of
destruction. Furthermore, as the cerebellum has structurally different
functional areas, one region may be affected more severely than the
other by means of ‘‘selective vulnerability,’’ resulting in the destruction
of one area and distortion of the other area, yielding different clinical
pictures.
15
In our patient, the ischemia was partial; she had an ataxia
along with a focal dystonia, but we are unable to comment on whether
she would still have dystonia if she had a different lesion. Destruction
in the cerebellar tissue as the cause of ataxia is more pronounced than
dystonia in patients with ischemia. As studies about the cerebello-
thalamo-cortical network accumulate and more cases with cerebellar
stroke and OMD are reported, the exact role of the cerebellum in
OMD and other focal dystonia may be elucidated.
References
1. Nutt JG, Muenter MD, Melton LJ, Aronson A, Kurland LT.
Epidemiology of dystonia in Rochester, Minnesota. Adv Neuro 1988;50:361–365.
2. Colosimo C, Suppa A, Fabbrini G, Bologna M, Berardelli A.
Craniocervical dystonia: Clinical and pathophysiological features. Eur J Neurol
2010;17(Suppl 1):15–21.
3. Rumbach L, Barth P, Costaz A, Mas J. Hemidystonia consequent upon
ipsilateral vertebral artery occlusion and cerebellar infarction. Mov Disord 1995;
10:522–525.
4. Alarco´n F, Tolosa E, Mun˜oz E. Focal limb dystonia in a patient with a
cerebellar mass. Arch Neurol 2001;58:1125–1127.
5. Tranchant C, Maquet J, Eber AM, Dietemann JL, Franck P, Warter JM.
Cerebellar cavernous angioma, cervical dystonia and crossed cortical diaschisis.
Rev Neurol 1991;147:599–602.
6. Waln O, LeDoux MS. Delayed-onset oromandibular dystonia after a
cerebellar hemorrhagic stroke. Parkinsonism Relat Disord 2010;16:623–625.
7. Marsden CD, Quinn NP. The dystonias. BMJ 1990;300:139–144.
8. Neychev VK, Fan X, Mitev VI, Hess EJ, Jinnah HA. The basal ganglia
and cerebellum interact in the expression of dystonic movement. Brain 2008;
131:2499–2509.
9. Niethammer M, Carbon M, Argyelan M, Eidelberg D. Hereditary
dystonia as a neurodevelopmental circuit disorder: Evidence from neuroima-
ging. Neurobiol Dis 2011;42:202–209.
10. Hoshi E, Tremblay L, Feger J, Carras PL, Strick PL. The cerebellum
communicates with the basal ganglia. Nat Neurosci 2005;8:1491–1493.
11. Bostan AC, Strick PL. The cerebellum and basal ganglia are
interconnected. Neuropsychol Rev 2010;20:261–270.
12. LeDoux MS, Lorden JF, Ervin JM. Cerebellectomy eliminates the motor
syndrome of the genetically dystonic rat. Exp Neurol 1993;120:302–310.
13. Daskalakis ZJ, Paradiso GO, Christensen BK, et al. Exploring the
connectivity between the cerebellum and motor cortex in humans. J Physiol
2004;557:689–700.
14. Neychev VK, Gross RE, Lehe´ricy S, et al. The functional neuroanatomy
of dystonia. Neurobiol Dis 2011;42:185–201.
Oromandibular Dystonia Akin A, Yilmaz R, Selcuk C, et al.
Tremor and Other Hyperkinetic Movements
http://www.tremorjournal.org
The Center for Digital Research and Scholarship
Columbia University Libraries/Information Services
3
15. Prudente CN, Pardo CA, Xiao J, et al. Neuropathology of cervical
dystonia. Exp Neurol 2013;241:95–104.
16. Carbon M, Kingsley PB, Su S, et al. Microstructural white matter
changes in carriers of the DYT1 gene mutation. Ann Neurol 2004;56:283–286.
17. Restuccia D, Valeriani M, Barba C, et al. Functional changes of the
primary somatosensory cortex in patients with unilateral cerebellar lesions. Brain
2001;124:757–768.
18. Quartarone A, Hallett M. Emerging concepts in the physiological basis
of dystonia. Mov Disord 2013;28:958–67.
19. Asanuma K, Carbon-Correll M, Eidelberg D. Neuroimaging in human
dystonia. J Med Invest 2005;52:272–279.
20. Draganski B, Thun-Hohenstein C, Bogdahn U, et al. ‘‘Motor circuit’’
gray matter changes in idiopathic cervical dystonia. Neurology 2003;61:1228–
1231.
21. Alcalay R, Wu S, Patel S, et al. Oromandibular dystonia as a
complication of cerebrotendinous xanthomatosis. Mov Disord 2009;24:1397–
1399.
22. Persing JA, Muir A, Becker DG, et al. Blepharospasm-oromandibular
dystonia associated with a left cerebellopontine angle meningioma. J Emerg Med
1990;8:571–574.
23. Schmidt A, Klein C. The role of genes in causing dystonia. Eur J Neurol
2010;17(Suppl 1):65–70.
24. Scott BL, Jankovic J. Delayed-onset progressive movement disorders
after static brain lesions. Neurology 1996;46:68–74.
25. Krauss JK, Mohadjer M, Braus DF, Mundinger F. Dystonia following
head trauma: A report of nine patients and review of the literature. Mov Disord
1992;7:263–272.
26. O’Rourke K, O’Riordan S, Gallagher J, Hutchinson M. Paroxysmal
torticollis and blepharospasm following bilateral cerebellar infarction. J Neurol
2006;253:1644–1645.
27. Manni E, Petrosini L. A century of cerebellar somatotopy: A debated
representation. Nat Rev Neurosci 2004;5:241–249.
28. Lehe´ricy S, Tijssen MA, Vidailhet M, et al. The anatomical basis of
dystonia: Current view using neuroimaging. Mov Disord 2013;28:944–957.
Akin A, Yilmaz R, Selcuk C, et al. Oromandibular Dystonia
Tremor and Other Hyperkinetic Movements
http://www.tremorjournal.org
The Center for Digital Research and Scholarship
Columbia University Libraries/Information Services
4
