Anyone know anything about Muscular Dystrophy, specificially Emery-Dreifuss?

[mm22bys]

Hi, it's been suggested that DS2 may have the above. Does anybody know anything about it? He hasn't had all the tests yet, and I don't think his symptoms meet the general descriptions I've read, but I am wondering if there's anyone here with any experience.

Thx,

Hello mm22bys. I don't have any personal experience I'm afraid, but because I am a geneticist (although not clinical, I do research) I know a bit about it. Have they said whether they think it's the X linked or autosomal form? There is quit a lot of variation depending on the gene, and where in the gene the mutation is. I hope you're not too worried- if I can help at all just ask.

They haven't said. He had some nerve conduction studies done last week, but they didn't do his bicep muscle. They haven't done a muscle biopsy, nor have they tested either DH or me. So far DS1 is showing no signs of anything.

We saw the physio today, and she thinks he is not showing signs of muscle weakness, more "physiological stiffness", whatever that means... we were thinking maybe he had CP, but the neurophysiologist last week said "this is not CP".

We have been playing the "waiting game" with DS2 pretty much since Feb, and now it's looking like it's set to continue for a while.

I am trying not to get too worried till we have some more information. But these days when you see any medical term / description it's so easy to just get onto Google...

Thanks for your response,