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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
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.
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
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
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.