Oromandibular dystonia

This page contains information about oromandibular dystonia (dystonia of the face,
jaw or tongue ) for medical professionals. For information on oromandibular dystonia
for patients and carers please click here.
Oromandibular dystonia is characterised by forceful contractions of the face, jaw or
tongue, which can cause difficulty opening or closing the mouth, often affecting
chewing and speech. Oromandibular dystonia is a neurological movement disorder
and should be diagnosed and treated by a neurologist specialising in movement
disorders or an Ear, Nose and Throat (ENT) surgeon.

Classification
Where torsion dystonia is the only clinical sign (apart from tremor) and there is no
identifiable exogenous cause or other inherited or degenerative disease,
oromandibular dystonia is classified as a primary pure dystonia. Symptoms of
primary oromandibular dystonia usually begin later in life, between the ages of 40 and
70 years so it is classified as a late-onset dystonia. It is more common in women
than men.
Oromandibular dystonia is a focal dystonia which means it affects only one region of
the body. However, in some cases it is part of a dystonia affecting two or more body
regions in which case the dystonia is classified as a multifocal or segmental
dystonia. When oromandibular occurs together with blepharospasm, this is
called Meiges syndrome.
Oromandibular dystonia can also appear as a symptom of tardive dystonia. Tardive
dystonia is a secondary dystonia, which means the dystonia has an identifiable
exogenous cause - in this case, exposure to drugs. Tardive dystonia is
usually multifocal and its onset can be at any age.

Symptoms
The symptoms of oromandibular dystonia are strange movements of the face and
mouth. In some but not all cases, eating and swallowing can be difficult. Difficulty in
swallowing is a common aspect of oromandibular dystonia if the jaw is affected, and
spasms in the tongue can also make it difficult to swallow.

Diagnosis

Oromandibular dystonia is often misdiagnosed by GPs. Conditions that it is

commonly mistaken for include damage to the jaw, tic, bruxism (teeth grinding),
dental problem, orthopaedic problem or a psychological problem.
Indications for a GP that the problem may be oromandibular dystonia rather one of
these other conditions include:

No damage shows up on x-rays

Does not clear up over time

Movement still present when patient unaware of being observed

Treatment
Although the symptoms of oromandibular dystonia may vary from person to person,
many people experience some reduction of spasm and improvement of chewing and
speech through regular botulinum toxin injections. Injections into the muscles that
move the mouth can be difficult, as a very precise dose needs to be given to avoid
weakening the muscle too much and some muscles can be difficult to inject. Because
of these difficulties muscles are usually injected using electromyography (EMG).
A few different drugs can help reduce the severity of symptoms in people with
oromandibular dystonia. Although some people get great benefit from such drugs,
they are not effective in everyone, and some people experience side effects.
Oromandibular dystonia may respond to the use of sensory tricks to temporarily
reduce symptoms. For example, gently touching the lips or chin, chewing gum,
talking or placing a finger near an eye or underneath the chin may cause symptoms
to subside temporarily. Different sensory tricks work for different people.

Speech and language therapy

A number of dystonias can affect speech. Where speech difficulties occur referral
should be made to a speech and language therapist (SALT). Patients
with oromandibular dystonia with articulation difficulties can be given mouth and
swallowing exercises to help them reduce the risk of choking by chewing and
swallowing safely.
Wuthin the NHS there are very few SALT posts who have experience of dystonia, so
not everyone who may need to see one is referred. However, if a health professional
is concerned about a patients speech and swallowing issues they should always
seek the advice of a SALT.

Dietary support
A number of types of dystonia can affect nutrition. Dysphagia (difficulty swallowing)
can arise fromoromandibular when it can be difficult to chew or move food around the
mouth to prepare it for swallowing.
Dystonia can also lead to an inadequate diet:

Those who have excessive movements may also find it almost impossible to
keep still whilst eating, making hand to mouth feeding very difficult. As a
result, finger foods and feeding cups are often used but these may not
provide enough nutrition.

Texture modified diets (e.g. puree diets) may be recommended due to

dysphagia and can have negative impact on nutritional status due to their
poor nutritional content.

Nutrition can be monitored using a screening tool (e.g. MUST) during home/clinic
visits or inpatient admissions. A referral to the dietitian should be made if weight loss
has occurred or if malnutrition is a concern. A dietetic referral is also required when
dysphagia is present. The dietitian can suggest appropriate use of texture modified
diets, food fortification and nutritional supplement drinks (e.g. Build Up,
Complan, Ensure Plus and Fortisip) to supplement diet.
Last reviewed March 2012
Disclaimer
The Dystonia Society provides the information on this page as general information
only. It is not intended to provide instruction and you should not rely on this
information to determine diagnosis, prognosis or a course of treatment. It should not
be used in place of a professional consultation with a doctor.
The Dystonia Society is not responsible for the consequences of your decisions
resulting from the use of this information, including, but not limited to, your choosing
to seek or not to seek professional medical care, or from choosing or not choosing
specific treatment based on the information. You should not disregard the advice of
your physician or other qualified health care provider because of any information you
receive from us. If you have any health care questions, please consult the relevant
medical practitioner.

What happens in the brain to cause dystonia?

Update on the latest research

This article explores what may be going on in the brain when a person has dystonia.
There are a number of different theories about how dystonia arises. There are
persuasive arguments for each but, as explained below, also still some gaps and/or
contradictory evidence so none can yet provide a full explanation. How these theories
fit together and which will turn out to be most important remains to be seen.
1. INHIBITION THEORIES
The brain/nervous system is a complex network composed of neurons operating in a
system of highly specialised, distinct neural circuits. Every aspect of our behaviour,
from reflexes to movement, relies on the processes performed by these neural
circuits. For these to work effectively in harmony, they need to be switched on
(excitation) and switched off (inhibition) with exquisitely precise timing.
Excitatory/inhibitory systems are enabled by the passage of chemicals
(neurotransmitters) across the neurons. Some neurotransmitters inhibit neuronal
activity while others excite it. In dystonia, it appears that some inhibitory circuits are
defective causing a process called co-contraction. Normally muscles work
harmoniously in pairs: one muscle (the agonist) is the prime mover while its partner
(the antagonist) must relax to allow the movement to happen. This enables a
smooth controlled movement. To achieve this the activity of the agonist must be
excited while that of the antagonist is inhibited. In co-contraction this harmony is
disrupted as the failure of inhibitory messages causes too much activity in the
antagonist resulting in the abnormal movements or postures seen in dystonia.
Evidence supporting inhibition theories
Researchers have shown that in healthy people, at the onset of a voluntary muscle
contraction, the neighboring muscles are less readily stimulated (so more inhibited).
In this way, the motor system can focus muscle activity and facilitate precise,
individual movements. So it appears inhibition is playing an important role in effecting

smooth movement.
Researchers have also compared the activity in the agonist and antagonist muscles
of people with dystonia to healthy controls. They have shown that in people with
dystonia the inhibition of the antagonist muscle is lower than in the controls while the
excitation of the agonist muscle appears normal. So it appears very likely that
inhibition failure is playing a causal role in co-contraction.
Further evidence is provided by the effectiveness of some medications such as
gabapentin and benzodiazepines in improving symptoms in some cases. These
medications stimulate the transmission of a neurotransmitter called GABA which
inhibits muscle activity so, if the medications can reduce symptoms, it suggests
inhibition was insufficient previously. In addition, it is this lack of inhibition that Deep
Brain Stimulation (DBS) treatment may address as DBS is thought to stimulate GABA
inhibitory neurons.
Evidence against inhibition theories
Abnormally reduced inhibition has been found in carriers of the DYT1 gene whether
or not they have dystonia symptoms (around 7 in 10 of those who inherit the DYT1
gene never develop dystonia). So reduced inhibition can be present without the
symptoms of dystonia appearing.
Also reduced inhibition may be found in both the left and right sides of the brain in
some people even where the dystonia symptoms are only present on the one side.
Conclusion on inhibition theories
Inhibition has been shown to be abnormal in people with dystonia and seems a
plausible explanation of dystonic symptoms. However, as these abnormalities can be
present in clinically unaffected parts of the body and in non-manifesting DYT1 gene
carriers, reduced inhibition cannot be the whole explanation and additional factors
must be necessary to produce dystonia.
2. ABNORMAL NEUROPLASTICITY

Neuroplasticity is the ability of the brain to reorganise its structure/function and

change its connections and behaviour in response to new information, stimulation,
development, damage, or dysfunction. Neuroplasticity is a perfectly normal process

and occurs when neurons in the brain sprout and form synapses. As the brain
processes information, frequently used junctions (synapses) are strengthened while
unused synapses weaken. Eventually, unused synapses are eliminated completely
leaving behind efficient networks of neural connections. It is thought that in the field of
neuroplasticity, if it fires, it wires, meaning that every time a person thinks about
something, or does something, a neural pathway is either being strengthened or
reinforced. This is how we learn and change.
In some types of dystonia, excessive neuroplasticity has been observed. This could
underlie the generation of dystonic movements. A simple analogy is to view
neuroplasticity like creating a path in freshly fallen snow(the snow representing the
plastic brain).At first, the result is a few footsteps in the snow but walk it again and
again and it becomes a track then a footpath. However, if this path is overused it can
become harder and harder to use any other path through the snow, as it requires too
much effort to start again.
This is fine if the path is useful but, in dystonia, plasticity may reinforce abnormal
movements. Each time the body repeats these movements, they claim more control
of the brains map of the body and prevent the relearning of normal movements. If the
brains of people with dystonia have a tendency to develop new tracks too quickly, the
tracks for abnormal movements may become hard wired too easily.
Evidence supporting abnormal plasticity theories
Abnormal plasticity has been measured in task specific focal dystonias such as
musicians dystonia, where repetitive activity is believed to be a trigger for the
development of dystonia.
Abnormal plasticity also appears to be present in DYT1 dystonia but importantly is
not present in DYT1 gene carriers who dont have dystonic symptoms. This may
explain why reduced inhibition doesnt always cause symptoms to appear - reduced
inhibition creates the potential for abnormal movements in all DYT1 carriers but these
movements only become hard-wired in the brain of those DYT1 carriers who also
have abnormal plasticity.

When DBS is provided to people with dystonia initially their level of plasticity reduces
well below normal and then gradually increases toward normal levels. Despite this, it
can take several months for the symptoms to be improved. The slow improvement
suggests that, even with the plasticity reduced to normal levels or below, the brain still
needs to unlearn the abnormal dystonic movements. This strongly suggests plasticity
has a role in dystonia.
Evidence against a role for abnormal plasticity in dystonia
Abnormalities of plasticity have been identified in patients with dystonia, but they
might not be sufficient to cause the development of dystonic movements and the
exact channels by which excess plasticity causes dystonia have not been identified.
In addition, if overtraining is a cause of some types of task-specific dystonia, this
does not explain why only some people develop dystonia after excessive training
whereas others are completely healthy.
Conclusion on neuroplasticity
The evidence strongly suggests that plasticity plays an important role but much work
needs to be done to explain how it influences dystonia and how it fits with other
causative factors.
3. INVOLVEMENT OF CEREBELLUM
Historically, dystonia was thought to be caused by abnormalities within a part of the
brain called the basal ganglia. However, unlike other movement disorders, there is no
evidence of degeneration within the brains neuronal circuitry. This suggests that the
problems causing dystonia result from abnormal connectivity that may occur in a
structurally normal appearing brain. Dystonia is therefore considered a system
disorder rather than a disease of a particular brain structure.
Recently there is evidence that the cerebellum may also be involved in causing by
dystonia suggesting that dystonia may result from disruption of motor networks
involving both the basal ganglia and cerebellum, rather than the isolated dysfunction
of only one part of the brain.

The cerebellum is located at the base of the brain, just above the brain stem, where
the spinal cord meets the brain. The cerebellum receives information from the
sensory systems, the spinal cord, and other parts of the brain and then regulates
motor (muscle) movements. The cerebellum coordinates voluntary movements such
as posture, balance, coordination, and speech, resulting in smooth, balanced
muscular activity. It participates in fine tuning and co-ordination of movements
produced elsewhere in the brain, and it integrates all of these things to produce
movements so fluid and harmonious that people are not even aware of them
happening.
Evidence supporting cerebellar involvement
Scans have identified that people with musicians dystonia and focal hand dystonia
show abnormal cerebellar activation during different tapping tasks and abnormal
cerebellar activation was also observed during writing in people with writers dystonia,
in voice dystonia during voice production and in blepharospasm during eye blinking.
This abnormal cerebellar activity coupled with evidence of increased energy
metabolism within the cerebellum during these tasks provides evidence for its role in
dystonia.
Research suggests that the cerebellum and basal ganglia communicate to shared
regions of the cerebral cortex. The discovery of this shared connection between the
basal ganglia and cerebellum provides a possible structural basis to explain the role
of the cerebellum in dystonia.
Involvement of the cerebellum is also supported by the fact that that in many different
forms of dystonia, loss of harmony between excitation and inhibition is a problem.
These functions are regulated by the basal ganglia and cerebellum, with some
evidence that they may exert opposing influences. Therefore, the influences of the
basal ganglia and cerebellum seem to overlap on cortical excitability as a common
pathway for dystonic movement.
Evidence against a primary role for the cerebellar involvement
Although it is clear that in dystonia the cerebellum often shows abnormal activity, it is
as yet uncertain whether this activity plays a primary role or is just a compensation to
a problem created elsewhere. The types of symptom usually caused by problems in

the cerebellum (such as uncoordinated movement, incorrectly timed movement,

dizziness) are different to the slow, writhing movements normally caused in dystonia.
Lack of these more common cerebellar symptoms may indicate that in most forms of
dystonia the cerebellum has abnormal, probably compensatory activity rather than a
primary role.
Conclusion on cerebellum
Cerebellar activity is often abnormal but it is unclear whether all manifestations of
dystonia involve both basal ganglia and cerebellar circuitry, or whether there is a
spectrum ranging from pure cerebellar dystonia, overlapping basal ganglia and
cerebellar dystonia, and pure basal ganglia dystonia. However, it is likely that the
cerebellum will have a key place within future models of dystonia.
CONCLUSION
This article illustrates that there has been considerable progress in understanding
what is happening in the brain to cause dystonia but there are still many questions to
resolve. The ideas emerging suggest that dystonia may have a combination of
causes - for instance abnormal inhibition together with plasticity. In addition, these
causes may result from abnormal activity in more than one part of the brain.

Causes of Dystonia
The cause of dystonia is not fully understood. There appears to be a problem with the
region of the brain called the basal ganglia. In most cases where dystonia appears in
adults and some case where it appears in children, there is no clear explanation for
why this problem arises.
However, in a minority of cases, the dystonia does have a clear cause. These are:

Another Medical condition

Where dystonias appear in children, in more than 80% of cases the dystonia will be
secondary to another condition. In the majority of cases, this will be cerebral palsy.

Some dystonias appearing in adults may caused by stroke or tumour.

Drugs
Some dystonias, called Tardive, are caused by certain drugs (especially dopamine
blocking drugs used to treat psychiatric disorders).

Genetics
Some cases generalised primary dystonia may be inherited. Click here for more info.