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Son diagnosed with Ataxia...can you help provide information

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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.


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Cerebral Palsy Answer A1678
Posted: 10-23-06 09:52am

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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