SCA type 6

General
21

Hi Wendy,

regarding my speech i remember having recited all the time childrens poems,songs,the rosary...the phrases with a lot of words could enrich the vocabulary of your son as he commemorates the pattern of expression of these words. While he perhaps can understand everything , he is not able to use the words by his own! But the repetition helps.

A friend of mine, linguistic teacher in Hongkonk, reported to me that the children in China in primary school would be reciting all schoolday long, and he had records of such exercises which he used to listen to during his car-travels.. It helps.. Also for me this steady repetition of texts,and learning them by heart has helped me to learn foreign languages in school. Sounds stupid at the first glance- but is enormous successful!

Thanks that you are wishing me the best for my health!

The same to you all!

Akita

22

Hi all, I have decided to try the BADAMPAK for my daughter and if not just for her for me. I have Fibromyalgia, Arthritis and Lymphoedema and it will be beneficial for me too so if she can't tolerate it as she is Autistic and quite funny about tastes and textures, I will give it a go. I have always given her Co-Enzyme Q10 since a young child as her Paediatric Neurologist in London recommended it and although I can never be certain, it could be because of that which has meant she is able to walk a little still at age 17 despite being told that by age 12 she wouldn't be walking at all.

I wish you all the best with your children or yourselves with this condition.

April

23



Bhopal Singh said:
I am a SCA7 case since11 years. Last 5 year I am on BADAMPAK , which completely stopped the progress of the disease. Before Badampak , I tried very hard to stop it but could not. I heard it helps in SCA6 also. One teaspoon every day.. It has no side effects as it is a Aruvedic brain tonic. If he got so early, then his CAG reapers should be very high. You can ask me any question but I suggest you should ask everything to a Neurologist. Most of information is available on internet.


I will have to look into that medicine! Thank you so much! Anything helps! If it helps you hopefully it could do the same for my little boy! I will ask the neurologist!
Okay so I did not realize Badampak was not a medicine but rather something natural! I am still willing to try it. It sounds good for everyone in my family :)
24



Akita said:

Hi Wendy,

Cerebral Palsy is often confused with ataxia-telangiectasia as the symptoms in small children often are not that characteristic to say for sure which disease they have got..

Dr Richard Gatti writes in his Review about Ataxia-Telangiectasia:

"Establishing the diagnosis of ataxia-telangiectasia is most difficult in very young children, primarily because all characteristic features are not yet present.

The most common misdiagnosis is cerebral palsy.-"

http://www.ncbi.nlm.nih.gov/books/NBK26468/#ataxia-telangiectas.Dif...

Ataxia-telangiecasia A-T is hereditary in a recessive manner. One mutation from each parent is said to be necessary for that the child gets the disease. But i have also read that sometimes the condition seems to be transferred from one parent to the child, and, furthermore, that SCA6 could appear in combination with one mutation for A-T (Such a single A-T mutation is not very rare,could be in 1:100 or 1:200 persons..)

What regards me, - i had some signs comparable with an ataxia in my early youth. Many falls; my speech sometimes not understandable (i was said to talk too fast), the other symptoms were clearly for A-T, but not such bad as it has been reported for the young children with "Zero-Mutations" for A-T.

From my uncle and my aunt - don`t know. But my mother was paralyzed/in the wheelchair from the 5-7 years. But this disappeared!

Has ataxia-telangiectasia been excluded for your son as a diagnosis?


Bert said:


Akita said:

Hi Wendy,

you are right. In this age nobody has been watched to have the disease onset of SCA6. Maybe your son has got the mutation, was born with the mutation. But he seems too young for a SCA6-onset- of- disease.

In my family one of my uncles and an aunt have got SCA6. The disease started as they were 50 years old, with 23 CAG repeats. My uncle now is 80 years old and still not in the wheelchair. He has worked regularly till the age of 62 in a leading position. My aunt has got three children, up to date all without the ataxia (50+ years old). Up to date, nobody of the younger people in our family has got symptoms of the disease, except perhaps me, -i am almost 57 - but i am not sure that in my case i would have SCA6, because the test done one year ago was negative.My situation is special because i have had an allogeneic stem cell transplantation for leukemia and have got two different blood-sets.with 4 alleles. . In my case i suppose having one or two mutations for ataxia telangiectasia instead, but cannot get the testing actually..

Supposedly your son has had symptoms and therefore has been tested for an ataxia? Maybe he has got an additional disease which causes his symptoms (maybe the SCA6 mutation contributing a little, but this topic has not been researched)..

Have you consulted a specialist for ataxia in children? In my knowledge on the UCLA in Los Angeles they are specialized.

Kind regards,

Akita


Thanks for commenting. The doctors had diagnosed him with Hypotonic cp too. But my husband and I are not sure now if he has that. Nothing happen during my pregnancy or birth so just not sure.
Can you possible ask your aunt and uncle if they now think back to childhood and if they realized there were signs of sca then. Like falling a lot or speech.
And I know you are a different case but what were your signs of ataxia earlier on in childhood?
Please take care of your self!!!
I will have to ask genetics about ataxia telangiectasia. I looked it up and it does sound like my son. He has had problem as a baby with spitting up the whole bottle constantly it did not matter how many different kinds we tried. He still has a hard time when he laughs he spits up! He had a GI doctor but nothing seemed to help him. He wore a helmet for Plagiocephaly and brachycephaly from 7 months -13 months to reshape his head and make his ears line up but never had to have surgery. He has had a ton of ear infections and sinus infections that last long than the normal child. He was a late walker at about 22 months. He never jumped until now at 31/2. He falls into everything and bumps his head a lot. He does not say more than two word phases and does not say all the syllables in the whole word. Diane "Dye" He has had eye surgery on both eyes because his eyes were turning in. He now has braces (AFO's) for walking. I think that sums him up!
You are right about seeming to young for sca6 but it was a exome sequence genetics test that says this.... So not sure! Hopefully get more answers on May 1st.
25

Hi Wendy,
.. i have to study first the vocabluary you have used there:
Plagiocephaly,
Brachycephaly
Braces(AFO`s..
You seem to be already specialized for the disease of your boy, perhaps there has been helpfful also your experiences with your own condition?
What regards SCA6 : This can be detected genetically as a special mutation.But having identified SCA6 this does not say that your sons would have the symptoms for SCA6, because the symptoms usually start in (later) adulthood!
Your son could have another disease, for which he has got the symptoms actually!
Like A-T there are some other disorders which could be diagnosed correctly additionally to a SCA6 mutation. The testing for the conditions your son might have got extra to SCA6 depends on the decision of a neurologist who has experience with a lot of children with a comparable conditon your son has got.
There are so many possibilities for different diagnoses your son might have got. -e.g. having only one A-T mutation, having another mutation, or a nongenetic condition.
There are not so many research centers for A-T in the world, because it is a rare disease. But in these centers a lot of childrens patients histories and experience with their treatment accumulate, and these doctors there could surely give advice to your genetician and neurologist which testint would be useful to do next.
For A-T there are also existing at least two family -support communities and a Facebook group. One in Great Britatin - the AT-Society, one in America (something with A-T..- you will find it by googling - and an Austrialian group on Facebook around an A-T clinic established there. Furthermore there are - a few people with diagnosed A-T and /or their parents in this group!
So hopefully you will be able to learn more about the condition of your son and to colllect extra helping advices and treatments!
Kind regards, have a nice day!
Akita
I will have to ask genetics about ataxia telangiectasia. I looked it up and it does sound like my son. He has had problem as a baby with spitting up the whole bottle constantly it did not matter how many different kinds we tried. He still has a hard time when he laughs he spits up! He had a GI doctor but nothing seemed to help him. He wore a helmet for Plagiocephaly and brachycephaly from 7 months -13 months to reshape his head and make his ears line up but never had to have surgery. He has had a ton of ear infections and sinus infections that last long than the normal child. He was a late walker at about 22 months. He never jumped until now at 31/2. He falls into everything and bumps his head a lot. He does not say more than two word phases and does not say all the syllables in the whole word. Diane "Dye" He has had eye surgery on both eyes because his eyes were turning in. He now has braces (AFO's) for walking. I think that sums him up!
You are right about seeming to young for sca6 but it was a exome sequence genetics test that says this.... So not sure! Hopefully get more answers on May 1st.
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26

Hi Akita, much of what you are saying about your son's symptoms fit with my daughter. She too wears SAFO's on her legs and feet to help her walk a little and she has nystagmus and other eye problems although has as yet avoided surgery. It is frustrating that her symptoms don't fit any of the diagnosable SCA's that there are tests developed for and now we are unlikely to find out which type it is as adult services aren't interested in finding out which type or how she got it and if it's hereditary etc. My daughter also didn't walk until she was 3 and had very poor speech until she was approx 5. We used Makaton sign language with her before that as although she had some single words her sentences didn't come until much later. She now has pes cavus causing her toes to curl under and she will need surgery soon if she's to be able to walk at all. She has quite a severe tremor and lots of Neuropathic pain and i'd love to be able to help her. Until then she plods on literally and falls lots but has the amazing sense of humour and unless really hurt she can laugh at her falls especially when she pin balls off furniture and ends up in a different room to the one she was aiming to go in to.

I really hope that soon there are more SCA diagnostic tests so we can know where this condition comes from. My older son shows no symptoms thank goodness although he has Aspergers. I have Fibromyalgia and Lymphoedema and can't walk much now and my balance is not good so I wonder if theres any connection but maybe i'll never know.

I wish you lots of luck for your son's future

April

27

Did you never assure this diagnosis by molecular testing for SCA6? When your boy would have SCA6 this should show up in such a testing.. This sort of testing seems cheaper than the exome sequencing. But perhaps this has already been performed and/or the doctors have told you why they did not do that..?

This test should provide you with information about the CAG Repeat-count your son has got.

And are you sure that none of you as parents have got the mutation? (Testing might be a question of costs..)

Akita