fria.==ataxa (affects the nervous system)

[fairydust]

fria = = ataxa

FRIA==ATAXA (DON'T KNOW WHAT THE TWO MISSING LETTERS ARE)

does anyone know what i'm on about?????

What it is my father who i have never known had a brother who eventually died from fria==ataxa

his wife heard i had a daughter who had walking problems and she said alot of the problems dd has are the same as his and that apparntly it's heriditary. only thing is i can't understand the spelling nither can dh so am unable to look into so please does anyone know what i'm on about..

i have never meet this woman my mum see's her every blue moon so unsure when i'l be able to get it checked with her.

SOMEONE PLEASE HELP.

Could it be Freidreich's Ataxia? Found this website - hope it links (although I don't think it is going to) otherwise you could put it in google and see what comes up.

health.allrefer.com/health/friedreich-ataxia-info.html

Hope this helps a little.

fairydust, how did you get the diagnosis of CP? They did do the battery test thing didnt they? Where they do the CT/MRI, EEG, chromosome tests etc? If they did and still came to the conclusion it was CP I wouldnt worry too much but just mention it at your next paed appointment that you want it investigating.

Have you been reffered for genetic counselling yet? They ask you to do a family tree of conditions etc (the gentic nurse helped us do ours) and this would be noted. It would be something they would try and rule out.

Just remember to take it with a pinch of salt atm. You wouldnt beleive how many 'people' I have had trying to diagnose my daughter

Fairydust, I think it must refer to Friedreich's Ataxia. It is a degenerative neurological condition. The ataxias take several different forms - FA is one, the most common one I think - and SOME have a genetic link. There is really very little known about them, BUT there is a group called Ataxia, which has a website www.ataxia.org.uk.

The reason I know all this is that I write the Ataxia newsletter. I will email you as well. But please, as Fio says, remember that there may be no connection at all. The ataxias really are still very obscure, and although some forms of FA run in families not all of them do. HTH.

I had a look at InternationalGirl's link and that says it's (Friedrich's) a recessive gene and has to come from both sides.

Hi, I've just got back after a few days away and saw this- you've already had some good advice, but I just wanted to add a couple of things. Friedreich's is always hereditary. Because of the way it's inherited it could only affect your daughter if your father is a carrier (50% risk), you are a carrier (another 50%) and your dh independently happens to be a carrier. Altogther not impossible, but fairly unlikely. There is a pretty straightforward DNA test they can do to see if you and your dh are carriers, and if you both are then they could test your daughter. Does your dd have any other problems? It's often associated with diabetes and heart problems. I would really recommend you do what Fio2 and MI suggest and get yourself checked out. It's easy to do and may put your mind at rest. I lecture on this disease quite a lot, so I'm happy to try and answer any other questions.

Sorry tamum if I gave the wrong info. I find the different ataxias very confusing! Are you a neurologist?

we've got the lady from genetic councelling comming on the 24th june so hopfully she will shed some light on it for us.

thank for you all help.

Hi motherinferior I'm not a neurologist, no. I'm a geneticist who lectures to neuroscientists. It's doesn't always look as though FA is hereditary because it's recessive, so it can just appear to pop up in a family never to be seen again, but the gene has been worked on extensively (it's got an unusual mechanism at the DNA level), and it can mutate spontaneously in rare cases. That still makes it hereditary, though, as the predisposition is there in other family members. The ataxias are the most genetically complicated group of disorders I've ever come across, so don't worry! (not all neurologists are all that clued up on genetics IME, she whispers)

Fiardust, that's good news, so good luck. Do remember that even if it is FA it's an enormously variable disease. Let us know how it goes.

tamum - whilst you're on this thread can I pick your brains? Do you know anything about Arnold Chiara malformation? If so, do you know whether that is hereditary?

Sorry Tinker, only just saw this. I didn't know anything about it, but I've done some reading. Unfortunately it's not straightforward. It's not generally thought of as genetic, because it usually arises spontaneously for some reason, but there are rare cases of it being seen in siblings. This tends to suggest that though most cases have non-genetic causes, there is a gene (or genes) which when mutated can give rise to the malformation. That's the worst case scenario though; it's not common enough to have been studied in twins, so it could be that the siblings have it because of some common environmental cause. Sorry not to be of more help, but feel free to ask if there's anything else.

Thanks for that tamum. It's just an overactive imagination on my part to worry about these things. Thing is, you don't often know you have it until you are between 20 to 40 apparently. However, my mother is from a large family and it's not occured in anyone else so think I can put it to the back of my mind.