CEREBRAL PALSY

Description:
Cerebral palsy is the name given to a large group of
motor (body movement) disorders that begin early in
life and result from brain injuries that are nonprogressive (do not worsen over time). Some children
with cerebral palsy also have learning, vision, hearing
and language disorders. Brain injuries that produce
cerebral palsy can happen before, during or after birth.
Although the specific brain injury causing cerebral palsy
does not worsen, the movement problems produced by
the injury can vary over time.
In most cases of cerebral palsy, the exact cause is
unknown. Some possibilities include developmental
abnormalities of the brain, brain injury to the fetus
caused by low oxygen levels (asphyxia) or poor
circulation, infection, and trauma. Injury and asphyxia
during labor and delivery once were thought to be
common reasons for cerebral palsy. However, some
current research suggests that cerebral palsy is caused
by problems that happen earlier in the pregnancy and
then result in a difficult delivery.
There are four basic types of cerebral palsy:
Spastic (stiff, difficult movement) Dyskinetic or
athetoid (involuntary and uncontrolled movement)
Ataxic (poor coordination and balance) Mixed
(combination of these types)
Cerebral palsy occurs at a rate of approximately one to
two out of every 1,000 live births, with the highest risk
among premature, low birth weight infants (birth weight
less than 1,500 grams) and multiple-gestation
pregnancies (twins, triplets, etc.).
Early signs of cerebral palsy usually appear before three
years of age.Infants with cerebral palsy are frequently
slow to reach developmental milestones such as
learning to roll over, sit, crawl, smile or walk.

Treatment
There is no standard therapy that works for all patients.
Drugs can be used to control seizures and muscle
spasms, special braces can compensate for muscle
imbalance. Surgery, mechanical aids to help overcome
impairments, counselling for emotional and
psychological needs, and physical occupational,
speech and behavioural therapy may be employed.
Prognosis
At this time, cerebral palsy cannot be cured, but due to
medical research, many patients can enjoy near-normal
lives if their neurological problems are properly
managed.
DOWN SYNDROME
Description:
Down Syndrome is a birth disorder in which the baby
has an extra copy of chromosome 21. The chances of
giving birth to a baby with Down Syndrome increase
sharply with maternal age, particularly when the mother
is over 35.
There are three main types:
Trisomy 21 (the most common type): there is an extra
chromosome 21 in every cell Translocation: an extra
part of chromosome 21 is attached to another
chromosome in every cell Mosaicism: some cells have
an extra chromosome 21 attached, while others are
normal.
Babies with Down Syndrome have distinctive physical
features, including a slightly flattened face, eyes
slanting upwards, and slightly smaller ears, hands and
feet. They usually have some degree of intellectual
impairment, and may be developmentally delayed. They
frequently have other health problems, such as hearing

or vision disorders; hypothyroidism; or skeletal,

intestinal or heart defects.
Treatment:
While there is no treatment for the chromosomal
abnormality causing Down Syndrome, early diagnosis
and treatment of any allied health problems improve
the persons life expectancy and quality of life.
Early intervention programs by health care
professionals (e.g. physiotherapy, speech therapy) and
special education programs assist children to achieve
their potential to lead full, productive lives.
Prognosis:
With improved medical care, the life expectancy of
people with Down syndrome has increased and the
majority now live past the age of 55.
EPILEPSY
Description:
Epilepsy is a neurological disorder in which brief,
recurrent changes in the electrical activity of the brain
lead to seizures or fits, lasting from a few seconds to
several minutes.
During an epileptic seizure, brain cells may fire at many
times their normal rate. In a partial seizure, only a part
of the brain is involved, while in a primary, generalised
seizure, the entire brain is involved. Seizures can also
be classified according to the nature of the attack as:
convulsive, in which there is a loss of consciousness,
along with muscle contraction and jerking limbs [also
known as tonic clonic seizures (previously known as
grand mal)], andnon-convulsive, which can be further
classified as: 'Absence seizures [also known as petit
mal] these mostly affect children and adolescents.
Although there is a brief loss of consciousness, lasting
for up to 30 seconds, there is no change in body
position;simple partial seizure these have widely

varied symptoms but there is no loss of consciousness.

Depending on the area of the brain involved, limbs may
jerk, or the patient may experience abnormal tastes or
smells, or emotional states; as well as unusual
behaviour such as lip-smacking or repetitive hand
movements.complex partial seizures like simple partial
seizures, these may also have widely varied symptoms,
however, they involve some alteration in consciousness
in addition to what has been described under simple
partial seizures.
There are many causes of epilepsy, including an injury
to the brain, certain infections such as encephalitis and
meningitis, and brain tumours. In the majority of cases,
however, the specific cause is unknown.
Treatment
In order to get an accurate diagnosis, and to identify
any underlying condition, patients will require a brain
scan and a thorough physical examination. In a small
number of cases [e.g. brain tumours], once the
underlying illness is identified and treated, the seizures
will stop.
Drug therapy is successful in preventing seizures in
approximately 7080 per cent of cases. A number of
different drugs are used to control seizures, depending
on the type of seizure the patient has experienced.
These include carbamazepine, ethosuximide, etc.
Surgery may be considered for those patients who
suffer frequent or severe seizures that cannot be
controlled by medication.
Prognosis:
The majority of people with epilepsy are able to live
normal lives, with few restrictions on their activities.
However, certain occupations involving the use of heavy
machinery, working at heights or under water, should
be avoided, and people with uncontrolled seizures will
be unable to obtain driving licences.

Women with epilepsy should consult their doctors before

becoming pregnant, so their medication can be
adjusted; however, although there is a slightly increased
risk, the majority of babies born to women with epilepsy
are free from birth defects.
MENINGITIS
Description:
Meningitis is a rare but serious infection of the
membranes (meninges) that cover the brain and spinal
cord. Meningitis can be caused by a range of different
bacteria, fungi and viruses. Viral meningitis is usually
mild and recovery is swift. Bacterial meningitis is a
medical emergency and can be fatal without prompt
treatment. Fungal meningitis is most commonly caused
by an infection of the fungus, Cryptococcus. It does not
develop acutely, but usually progresses slowly, causing
headaches and cranial nerve palsies. It may be fatal or
cause permanent brain damage. Haemophilus (Hib)
meningitis used to be the most common type of
meningitis in Australia until a national
vaccination program was set up in 1992. Today the most
common types of bacterial meningitis are caused by
the Meningococcus bacteria and the Pneumococcus
bacteria. A new type of vaccine is now available that
can give long lasting protection against Group C
meningococcal disease, one of the most common
groups of the disease in Australia. A national Group C
meningococcal vaccine program commenced in
Australia in 2003. The vaccine is given free to children
aged 12 months to 15 years and adolescents aged 16
and 17 years. Unfortunately there is no vaccine for
meningococcal Group B disease, the other most
common type in Australia. The germs that cause
bacterial meningitis may live in the nose and throat.
People of any age can carry them without becoming ill,

but they can infect someone else through coughing or

sneezing. The symptoms of meningitis in babies and
young children include: fever, food refusal, fretfulness,
drowsiness, purple-red skin rash or bruising, high
moaning cry, light sensitivity and pale or blotchy skin.
Symptoms in older children and adults include;
headache, fever, vomiting, neck stiffness and joint
pains, drowsiness and confusion, purple-red skin rash or
bruising, light sensitivity. If you are concerned you
should contact your GP immediately. If your doctor is
not available, go to the emergency department of your
nearest hospital.TREATMENT
Viral meningitis is usually mild and antibiotics are not
needed. It is usually treated like the flu with patients
advised to get bed rest and drink plenty of fluids.
Bacterial meningitis is a medical emergency and can be
fatal if not treated quickly. Intravenous antibiotics are
usually started as soon as bacterial meningitis is
suspected. Close contacts are sometimes given
clearance antibiotics to reduce the risk of further
infection.
Fungal meningitis is treated with intravenous and oral
anti-fungal agents.
Prognosis
Prompt treatment of meningitis is vital. Early diagnosis
and treatment reduce the risk of infection and the risk
of complications from infection.
Viral meningitis is usually mild and recovery is swift with
the illness getting better on its own in 7-10 days.
Bacterial meningitis can be severe. Recovery can be
slow and not everyone has a full recovery.
The death rate is about 5 per cent and some patients
are left with permanent disabilities such as cerebral
palsy and deafness.
DYSAUTONOMIA
(Familial Dysautonomia, Riley-Day Syndrome)

Description
Familial Dysautonomia (also known as Riley-Day
Syndrome) is a rare genetic disorder that affects the
sensory and autonomic nerve system. It is found
primarily in children of Eastern European Jewish
background (Ashkenazi Jews) who have inherited two
recessive genes (i.e. one from each parent).
People born with this disorder have a reduced number
of nerve fibres; as a result, they have reduced
sensations of pain, touch, temperature and taste. In
addition, they are unable to produce overflow tears,
have impaired motor coordination, and have difficulty
with sucking and swallowing. This leads to repeated
vomiting, and frequent lung infections that are brought
about by gastrointestinal fluids entering the lungs.
Other problems that may occur include excessive
sweating, seizures, scoliosis and delayed puberty in
girls.
Treatment
While there is no cure for this genetic disorder, medical
care is directed at relieving the symptoms it causes. For
example, a feeding tube inserted into the stomach can
assist in feeding, and prevent fluids etc. from entering
the lungs, while drugs are prescribed to prevent
vomiting and seizures, eye drops lubricate dry eyes, and
surgery can correct scoliosis.

Prognosis
With improved medical care, the life expectancy of
people with Dysautonomia is increasing, and about 50
per cent live to the age of 30.

CHRONIC INFLAMMATORY DEMYELINATING

POLYNEUROPATHY
(CIDP)
Description
Chronic inflammatory demyelinating polyneuropathy
(CIDP) is a neurological disorder that results in slowly
progressive weakness and loss of feeling in the legs and
arms. It is caused by the bodys immune system
inappropriately reacting against and damaging myelin.
Myelin surrounds the peripheral nerves and acts like an
insulator so that the nerves can conduct impulses
properly. It is closely related to Guillain-Barr syndrome
(GBS). However, GBS develops acutely (over hoursdays) whereas CIDP usually develops slowing (over
weeks-months).
CIDP can occur at any age and in both sexes, but is
more common in men than women.
Symptoms include tingling, numbness or altered feeling
which often begins in the feet and hands, weakness of
the arms and legs, fatigue and aching pain in the
muscles.
Treatment
Treatment for CIDP is aimed at suppressing the immune
system. First line treatment is usually with intravenous
immunoglobulin. If this is not available, plasmapheresis
(plasma exchange) or oral medications which suppress
the immune system such as steroids may be used.
Physiotherapy may improve muscle strength, function
and mobility, and minimize the development of
contractures.
Prognosis
The course of CIDP varies widely among individuals.
Some may have a bout of CIDP followed by spontaneous
recovery, while others may have many bouts with
partial recovery in between relapses. The disease is a
treatable cause of acquired neuropathy and initiation of

early treatment to prevent loss of nerve cells is

recommended. However, some individuals are left with
some residual numbness or weakness.
CERVICAL DYSTONIA
WHAT IS CERVICAL DYSTONIA?
Cervical Dystonia often referred to as spasmodic
torticollis, is a particular type of focal dystonia that
affects the muscles of the neck. It presents in different
forms as follows: torticollis, laterocollis, anterocollis and
retrocollis.
Spasmodic Torticollis is the term commonly used to
describe all forms of cervical dystonia. You may find
other terms being used to describe your condition and
this can be confusing. An explanation of these terms
and explanatory diagrams are given below.
Many people will have more than one type of cervical
dystonia. For instance, an individual with torticollis may
also suffer from anterocollis.
As the muscles of the neck are overactive, the sufferers
posture may be affected causing pain and stiffness in
other muscles not directly affected by the dystonia.
Information in the USA suggests that as many as 30 in
100,000 people have cervical dystonia. Accurate
statistics are difficult to report because of those
sufferers who continue to go undiagnosed in the
community. The figure, therefore, may well be higher.
Cervical dystonia is reported as more common in
females and affects people of all ages though it usually
occurs in the 40-50 age-group.
There are many different degrees of disability. Where
some people with cervical will have few symptoms and
little pain, others may suffer a high degree of disability
and chronic pain, requiring treatment. Similarly, some
sufferers have much fewer symptoms in the morning,
particularly early in the disease, and symptoms return

as the day goes on allowing more function early in the

day.
There is no known cure for cervical dystonia. However,
treatments that can improve life for the sufferer do
exist.
What are the Different Forms of Cervical Dystonia?
Torticollis
The most common of the cervical dystonias. The chin
and nose rotate to one side and may stay in this
position (tonic) or may turn to the side only
intermittently and then released (clonic). A tremor of
the head may also be seen. The muscles most
commonly involved are the splenius capitis, trapezius
and levator scapulae on the same side and the
sternocleidomastoid on the opposite side.
Laterocollis
This is the second most common cervical dystonia. The
head is pulled to one side and down to the shoulder.
Sometimes one shoulder lifts up. The muscles most
often responsible are the splenius capitis, scalene,
trapezius, levator scapulae. In this instance the
sternocleidomastoid of the same side may be involved.
The individual has difficulty maintaining the head in a
central position and has even more difficulty turning the
head to the other side.
Anterocollis
The chin is pulled down towards the chest. Both
sternocleidomastoid and scalene muscles are often
involved. This may cause problems with swallowing,
speaking, socialising and vision.
Retrocollis

The head is pulled backwards towards the spine. The

muscles usually involved are the neck extensors. Again
communication, vision and swallowing may be affected.
Living with Cervical Dystonia
Quality Of Life Factors
Some people with a mild form of cervical dystonia may
have little in the way of day to day problems, but for
some sufferers their condition has an impact on many
aspects of their life. Since the treatments available for
Cervical Dystonia rarely solve all of the problems, its
largely up the individual to find solutions which improve
their comfort.
Workplace
Make sure your workplace is as safe and comfortable as
possible for you, by making changes to equipment and
furnishings. Take into consideration your limitations in
mobility and vision. Choose someone you can confide
in comfortably and tell them about your condition.
Whether you tell others or not is a personal choice. Do
not be embarrassed if you should bump into things a
little more frequently than others. A simple apology will
suffice. Show a good work ethic and that you are willing
to work with others and you will be admired for who you
are.
Family
Families can provide an effective support system for the
sufferer. Remember that they need you to confide in
them or they will not be able to recognise your needs.
Share the good times as well as the bad and consider
their feelings regarding the changes to your lifestyle.
Discuss the changed roles in the household relative to
your condition.

Self
Consider your needs as well as the needs of others.
Take all measures to keep yourself in good physical and
mental health. It is important to keep pain under
control and reduce your symptoms wherever you can.
As is the case with any long-term illness, a positive
attitude will enhance a sufferers quality of life.
Social Interaction
The symptoms of Cervical Dystonia can be more
obvious when walking, holding a particular posture, or
when the person is feeling anxious or stressed. This
poses problems in the social setting. Sufferers often
feel that all eyes are upon them, but this is rarely the
case. It is more likely true that they are more aware of
their body than an observer. People must learn to cope
with this problem in their own way. Some people prefer
to ignore their disability while others prefer to tell
people of their condition at the first meeting. It is
important that social activities be maintained in such a
way as to prevent social isolation.
Driving
Cervical Dystonia can adversely affect an individuals
ability to drive safely. However, modifications can often
be suggested, for instance adjustments in mirrors or
additional mirrors or a change in the seating position.
This is well worth pursuing as driving equals
independence for many sufferers.
Sensory tricks or gestes
Many sufferers have trigger spots, usually on the face or
head, which they can touch and their neck and head will
return to normal, or near normal posture for a time.
Sometimes even just thinking about the gesture will
achieve the same objective. It is not known how or why
this mechanism works, but it can assist the sufferer in

both comfort and in social situations. There is promising

research about the potential of using sensory tricks for
future treatments. Some people find that posturing and
positioning themselves in a certain way will also help
them regain control of their necks and hide their
disability. Ensuring you always sit in a position that is
advantageous to you, whether at the theatre, a dinner
party, or engaged in general conversation, will help your
confidence in a social situation and allow you maximal
vision. This also minimises spasm as you do not have to
adopt a forced posture.
COMA
Description
Coma is a state of unconsciousness in which a patient
does not react with the surrounding environment. It is
not possible to wake a coma patient using physical or
auditory stimulation. Additionally a person in a coma
fails to respond normally to painful stimuli, light, or
sound; lacks a normal sleep-wake cycle and, does not
initiate voluntary actions (Weyhenmyeye et al., 2007),
being unable to consciously feel, speak, hear, or move.
Coma patients can exhibit different levels of
unconsciousness and unresponsiveness depending on
which brain regions have been damaged and how much
or how little of the brain is functioning.
Coma may result from; intoxication (eg drug abuse,
overdose or misuse of medications), metabolic
abnormalities, central nervous system diseases, acute
neurologic injuries (eg stroke, hernia, hypoxia,
hypothermia) or traumatic injuries caused by falls or
vehicle collisions etc. In some instances, coma may be
deliberately induced using pharmaceutical agents in
order to preserve higher brain functions following brain
trauma, or to save the patient from extreme pain during
healing of injuries or diseases.
Treatment

Initial treatment will depend on the cause of the coma,

and will be directed at preventing further damage to the
brain. If the patient is having difficulty breathing, he or
she may be placed on a respirator. After a head injury,
surgery may be required to stop bleeding and/or reduce
swelling. If there is an underlying illness, or poisoning,
then treatment will be directed at the underlying cause
(Mohamed, 2010). The patients respiration and
circulation must be monitored and maintained, using
intubation and ventilation. Intravenous fluids or blood
and other supportive care must be provided as needed.
Once stable and no longer in immediate danger then
further treatment will be directed at maintaining the
patients physical condition and preventing
complications. For example, this could involve providing
adequate nutrition, and preventing infection (e.g.
pneumonia, bed sores). Physical therapy may also be
given to maintain muscle condition (Mohamed, 2010).
A person in a coma may become restless, requiring care
to prevent them from hurting themselves or attempting
to pull on tubes or dressings. In these instances,
medicine may be given to calm the patient. Side rails on
the bed should be kept up to prevent the patient from
falling. While not empirically validated, families have
reported benefits from arousal regimes, such as those
implemented by Dr Ted Freeman (eg Coma Arousal
Therapy). The therapy involves family members taking
the patient through a regimen of controlled auditory,
visual and physical stimulation for up to six hours a day
every day.
Prognosis (Outlook For Recovery)
Comas can last from days to weeks while some severe
cases have lasted several years. Recovery from a coma
depends, to a considerable extent, on the original cause
of the coma, and on the severity of any brain damage.
Some patients (e.g. patients in a diabetic coma) will
make a complete recovery, while others, particularly

those who have suffered a head trauma, may have

some physical, intellectual or psychological impairment
that will require further treatment (Mohamed, 2010).
Patients can gradually come out of the coma, some
progress to a vegetative state (aka unresponsive
wakefulness syndrome) and others die. Some patients
who have entered a vegetative state go on to regain a
degree of awareness (see Minimally Conscious State).
The likelihood of significant functional improvement for
coma patients diminishes over time.

Many patients with Chiari malformation will also develop

a cyst within the spinal cord (syringomyelia). These
cysts are usually in the upper part of the cord near the
Chiari malformation but may occur in any part of the
spinal cord. These patients present with pain and
numbness in the arms, legs, or trunk. In severe cases
weakness and spasticity of the legs or arms also occurs.
Patients may present with symptoms from
syringomyelia and have no symptoms from the
underlying Chiari malformation.

CHIARI MALFORMATION
(ACM, Arnold-Chiari Malformation,
Cerebellomedullary Malformation Syndrome)

Treatment
Children with Chiari malformation that is associated with
spina bifida may require surgery to repair the
myelomeningocele. Hydrocephalus may be treated with
surgical implantation of a shunt to relieve increased
pressure on the brain. Patients with symptomatic Chiari
malformation or syringomyelia may benefit from
surgery in which the opening in the base of the skull is
enlarged to relieve the pressure on the medulla and to
allow normal flow of the cerebrospinal fluid.

Description
The Chiari malformation is usually present at birth, but
can develop later in association with some tumours and
spinal abnormalities. Abnormalities at the base of the
brain may include the displacement of the lower portion
of the brain (cerebellum) and/or brain stem through the
opening in the back of the skull (foramen magnum)
typically into the spinal canal. Some infants may also
have abnormal accumulations of cerebrospinal fluid in
the skull (hydrocephalus). Other malformations of the
brain and spinal cord (i.e., spina bifida) may also occur.
Symptoms often begin during infancy, although they are
usually delayed until adolescence or adulthood. These
usually include headache in the occipital region,
vomiting, muscle weakness in the head and face,
difficulty swallowing, and varying degrees of mental
impairment. Paralysis of the arms and legs may also
occur. As they grow older, adults and adolescents with
Chiari malformation who previously showed no
symptoms may show signs of progressive brain
impairment, such as involuntary, rapid, downward eye
movements.

Prognosis
Most patients who have surgery experience a reduction
or stabilisation of their symptoms. Some patients may
experience prolonged periods of relative stability.
Infants with very severe malformations may have lifethreatening complications.

ESSENTIAL TREMOR
Description

The most common cause of tremor (shaking) is essential

tremor (ET). ET causes tremor but no other
abnormalities. ET almost always first affects the hands,
although other parts of the body such as the head or
voice may eventually become involved. ET is always
most pronounced when the hands are being used,
whereas in Parkinsons Disease the hands usually shake
most when at rest and less when they are being used.
Certain medications, such as asthma medications,
Ritalin or lithium, as well as stress and caffeine, make
most tremors worse. Occasionally other diseases such
as thyroid disease or Parkinsons disease can mimic ET;
these should always be excluded and neurological
review may be required.
ET can develop at any age, including childhood, but
becomes increasingly common with advancing age,
affecting up to 10-25% of older people. ET is familial in
50% of cases, and the cause is unknown in the
remainder. If ET runs in the family, each child with an
affected parent will have a 50% chance of inheriting the
disorder.
In most people, ET is more embarrassing than disabling.
In some people it can interfere with day to day activities
such as drinking from a cup, eating or writing.

Treatment
Many people with ET do not require treatment once they
are reassured that they do not have an alternative
disease. Known triggers such as caffeine should be
avoided. The most commonly prescribed medications
are propranolol and primidone. Propranolol is a blood
pressure tablet that people with asthma or a history of
asthma must not take. Primidone is an anti-epileptic
medication. Other less commonly used medications that
have been shown to be effective are alprazolam,
gabapentin and topiramate. In the rare person with
disabling ET, deep brain stimulation is a highly effective
treatment.

Prognosis
ET can gradually worsen over many years, but is usually
slowly progressive. It rarely becomes moderately or
severely disabling.