A friend of mine just told me she has MJD in her family. One of her relitives just few over to China for a stem cell transplant, but it did not seem to help. Does anyone here know of any good resourses for this disease? I ask b/c for some reason I think some here may know about this too. Feel free to PM me if you don't want to discuss this topic on the HDAC site.

Thanks,

Brett T

PS I had never heard of it.



Edited 1 time(s). Last edit at 02/03/2010 07:55PM by Brett T.

Seems I've read of it, Brett!

Is that the one where one is LACKING a huntingtin gene - and generally dies soon after birth?

jl

The China trip is one massive waste of money and time, complete scam. Don't go India either.

[www.hdyo.org]

I don't think so, it seems to be a lot like HD though. If they have it "bad" they don't live past their mid thirties. I also think it works the same way as HD does and their kids have a 50/50 shot of getting it too, and many of the symptoms seen to be close to ours.

Thanks Matt, I think they found this out the hard way.

Oh well, then - that wouldn't be what I was thinking of.......

jl

Hi Brett -


MJD is another "polyQ" disease, which means that like HD it is caused by an expanded "CAG" in a gene. In this case, the mutation isn't in the huntingtin gene, but a gene called ataxin-3. Based on their symptoms, MJD is classed as a "cerebellar ataxia", which is a group of conditions that have similar pathology.

So you friend could google around for "MJD", "SCA3", "Spino-cerebellar Atatxia" etc. But, there's probably a lot of junk out there, so you might refer them to the NIH site:


[www.ninds.nih.gov]




Hope this helps,


jeff

Thanks you Jeff. The way you put it allows me to understand it, and lets me tell her where to go for "good" info. Dusty helped me on this too, so I want to say thanks to her again, as well.

Brett T

Brett, this was very interesting, because i've never heard of this. I tried to google it last night, but my google wasnt working, so just googled it now. Yes, that's what i found out too, that it has cag expansions just like hd, and is a lot like hd, but hd is on chromosome 4, and this other one is on chromosone 14

Don't oysters help when your google doesn't work?

uhmmm, are you being naughty eric???!!! LOL

I think the oysters have proven to be an Ole wive's tale, and this Ole Wife has a tale to tell that I've tried it and I at least don't need it.. didn't help, don't need it lol

Tee hee!!!

jl