Son diagnosed with Ataxia...can you help provide information Posted: 10-18-06 07:00am
just wondering i have an 8 year old son
with ataxia. it is undiagnoised and we
have been having different tests since he
was 2. he walked about 2, always floopy
with sitting and never crawelled
properly.He flactuates the sympton which
is speach delay, motor planing, fine
motor, and the walking becomes very
ataxic, that could lasts 2or 3 months
with no patern. He does become worse when
tired or sick as you would expect. We have
looked from everything from CP to Cystic
fybrosis, and have boggle the newcastle
doctors . he has chronic pain expecially
in lower back, legs, of a night and
screams in pain. We are just have another
genetic test (he had this test when he was
4) but they are looking for AT which is
ataxia telectengia (sorry bout that
spelling)He tires very easy but is
mentally allert and very smart. Smart
enough to hide this when he can. we are
looking for a answer to just get on with
it. maybe if they say yes well we will
call it this we can know what to expect.
over the years he has had silent seizures
and one 20 minute one.had bowel and
bladder problems. eye turn and wears
glasses. lots and lots of ear problems
with 4 sets of grommets. I thought ataxic
cerebal palsy but he fluctuates too much
so the doctors do not agree.. i have all
the test results and they are all
negative. Some qlues through these test
have gave us another link for more test.
Basically He talks, walks and acts like he
has been to the pub and had too many
beers. but that doesnt help a 8 year old
smart boy who is well aware he is
different and in constant pain. he aims so
hard not to be different and gets very
frustrated other this..he does lots of
physio and speach mainly at school .he
gets by ok with a lot of hard work to make
him what he is today. if you can offer any
imput would be great i have a test results
if you need more detail. there is probably
so much more i could tell you but over 8
years we just cannot keep up.
Your son may have a congenital (inborn)
anomaly or be experiencing acquired damage
(in the early stages of life) of the
central nervous system.
All congenital anomalies are subdivided in
2 main categories: inherited and
not-inherited. Inherited congenital
anomalies are due to genetic defect(s), or
mutations, of the parent(s)' genes that
are inherited by the child. An example of
this is ataxia teleangiectatica.
Not-inherited congenital anomalies are, in
fact, acquired during the embryonic/fetal
development in the mother’s uterus. They
are usually caused by a viral infection,
radiation or a teratogenic substance,
including medicine.
Acquired brain damages can occur during
delivery or in the early stages of
childhood. Cerebral paralysis can be
acquired during fetal development or after
delivery. Sometimes it iss very difficult
to distinguish among inherited,
not-inherited, congenital, and early stage
acquired brain damages given only clinical
manifestations.
For a precise diagnosis, your son needs a
physical and mental examination, genetic
examinations, CT-scan, an MRI of the brain
and spinal cord, an EMG, and EEG. You can
appeal to a pediatric neurologist for
assistance.
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