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GENERALISED DYSTONIA
WHAT IS
IT?
Early-onset generalised Dystonia is the most common
hereditary Dystonia. It is characterised by twisting of the
limbs, specifically the foot/leg or hand/arm. The spasms may
spread to involve twisting contractions of other parts of the
body.
SYMPTOMS
In early on-set generalised Dystonia the symptoms can
range from twisting postures, turning in of the foot or arm,
muscle spasms, unusual walking with bending of the torso,
sometimes rhythmic jerking movements. The younger the age of
onset, the more likely the dystonic symptoms will begin in one of
the legs, spread upward and become generalised. The
movements commonly begin with a specific action, and are not
present at rest e.g if it begins in one leg, the symptoms may only
be present when walking and disappears when the child runs.
Dystonia is usually present throughout the day whenever the
affected body part is in use. The ages of onset varies, but
the peak period is between the ages of seven and ten.
CAUSE
Generalised Dystonia is believed to be due to abnormal
functioning of the basal ganglia which assists in initiating and
regulating movement. An imbalance of dopamine, a
neurotransmitter in the basal ganglia, may underlie several
different forms of Dystonia. The gene DYT1 is responsible for
generalised Dystonia and the mode of inheritance is autosomal
dominant. The DYT1 mutation that causes Dystonia is a
deletion of three nucleotides, which are the molecular building
blocks of DNA. Most cases of Dystonia are not due to new
mutations, but rather to accurate copying and inheritance of a
gene mutation that occurred many generations in the past.
DIAGNOSIS
Diagnosis is based on information from the affected
individual and the physical and neurological examination. A
family history may be obtained as this is a hereditary form of
Dystonia. Testing for the DYT1 gene may be helpful in
confirming diagnosis of generalised Dystonia. If negative,
it does not mean that the person does not have Dystonia, but that
he does not have this particular genetic subtype of Dystonia.
TREATMENT
Treatment for Generalised dystonia is designed to help lessen the
symptoms of spasms, pain and disturbed postures and functions.
The goal of any treatment is to achieve the greatest benefits
while incurring the fewest risks. It is to allow you to lead
a fuller, more productive life by reducing the effects of
Dystonia. The approach for treatment can be
three-tiered: oral medications, botulinum toxin injections and
surgery. These therapies may be used alone or in
combination.
MEDICATIONS
Physicians need to be very conscious of how their patients
are reacting to prescribed medications and potential side effects.
There are many pharmacological options for Generalised dystonia and
physicians depend heavily on oral medications to treat this form
of Dystonia. The most thorough studied medications used are anticholinergics, the most popular of which are Artane and
Cogentin. A child diagnosed with generalised Dystonia will
often receive a trial prescription of levodopa to rule out dopa-responsive
Dystonia. Levodopa can have a remarkable benefit for people
with dopa-responsive Dystonia, and it can sometimes help the
symptoms of Generalised dystonia.
BOTULINUM TOXIN
Botulinum toxin injections may be effective in treating
generalised Dystonia as an adjunct to oral medications for a
specific group of muscles. If the neck muscles are
profoundly in spasm, injections of botolinum toxin into the neck
may give added benefit that already being obtained with
medications.
SURGERY
Neurosurgical treatment
for Dystonia is usually reserved for those persons where the
potential benefits outweigh the potential risks and for those for whom
non-surgical treatment is no longer providing adequate control of
the symptoms. Surgery is undertaken to interrupt, at various
levels of the nervous system, the pathways responsible for the
abnormal movements. Such operations intentionally damage
small regions of the thalamus. Deep brain stimulation (DBS)
has been tried with some success. Each person is unique, and
the muscles vary from one patient to another. It is therefore
important to be evaluated by a professional.
Pallidotomy and thalamotomy target regions of the brain that are
involved in movement generation. By destroying one or the
other portions of these small brain regions, these surgeries
attempt to rebalance movement and posture control. Response
to surgery has been variable. The technique of DBS has been
put in place of the conventional approach of lesioning or ablation.
DBS entails placing a permanent radio frequency stimulating
electrode in the brain which is connected to a pulse generator
implanted in the chest wall. Whereas ablation causes
permanent destruction of the target area, DBS acts reversibly to
inactivate the area. It can be adjustable in terms of
frequency and amplitude of the current pulses, thus specifying the
area influenced.
COMPLEMENTARY THERAPY
The use of sensory tricks may also be effective in dealing
with early onset generalised Dystonia. Some of the common
‘tricks’ used are touching the involved or adjacent body part,
elevating one leg when standing in one place, or placing one hand
on the back of the head when the trunk is involved.
Different sensory tricks work for different people, and if a
person finds a sensory trick that works, it usually continues to
work.
SUPPORT
By educating yourself with information, you have taken the
first step dealing with Dystonia. Dystonia and it’s
emotional offshoots affect the aspect of a person’s life – how we
think, the way we act, and how we cope. Stress is an
inevitable part of life, and although it clearly does not cause
Dystonia, it can aggravate Dystonia symptoms. Stress-
reduction programs such as relaxation techniques, meditation, and
journal writing may be beneficial. Sometimes depression can
be a by-product of Dystonia. It, too, can aggravate symptoms
and make them worse, but, often treating depression can result in
an improvement of Dystonia. It is important to remember that
depression is a disease; it is treatable and not a reflection of
one’s self. Since early-onset generalised Dystonia affects
children, schools and peers need to be educated about the
condition.
RELATED QUESTIONS
What kinds of special educational equipment/and or School
strategies are appropriate for children with Dystonia?
The most important thing is for school administrators and
teachers to understand Dystonia. It can be difficult for
people to recognise that young people with muscle problems are
just as bright as able-bodied children. Every child with
Dystonia will have different needs. Keyboards are sometimes
helpful for those who can’t write. Access to an elevator
instead of stairs is important for those having trouble walking.
Students with Generalised dystonia may also need little more time
for writing tests.
Is physical therapy appropriate for generalised Dystonia?
In some cases stretching can be helpful to preserve a full
range of motion. Strengthening exercises can also be
beneficial if they are not too strenuous and are specifically
suited for each individual case.
What’s the best way to deal with pain?
Pain is difficult to treat if symptoms don’t respond to
oral medication or botulinum toxin injections. Muscle
relaxants may have the same effect with such over the counter pain
medications such as ibuprofen. Physicians should be able to
ascertain where the pain is due to the Dystonia or to other
secondary conditions such as arthritis or a compressed nerve.
What should you do when extended family members won’t accept
Dystonia?
Fear, denial, and guilt among family members are very
common. Don’t hide away from these
people, go to the holiday parties and family get-togethers.
Most people will eventually adjust, and you have to shrug off
those who don’t. It is okay to let extended family see how
Dystonia affects your everyday life.
Information taken from The Dystonia
Research Foundation USA web site. |
