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duchenne muscular dystrophy worries (apologies if insensitive)

(8 Posts)
TheNewbyNewt Thu 04-Feb-16 09:30:34

Hi,

I'm very sorry if this post is insensitive in any way but I would be grateful for any advice from those who know more about early signs of duchenne muscular dystrophy.

My family have a history of duchenne muscular dystrophy (my maternal uncle had it and my aunt is a carrier). I was lucky enough to have genetic counselling at st Thomas' and was told my sister and I only have 1% chance of being carriers which is great news. I went on to have a boy who is now beginning to cruise and walk.

I find myself often worrying that he may have the dmd even though I know this is very unlikely. I know my worries are irrational in many ways and I'm probably just looking for something to worry about.

I am asking if anyone knows of the early signs of dmd? Are there things I should be looking out for? All of the googling I've done suggests symptoms may not become clear until 3 or older and to look for stair climbing gait etc.

Thank you in advance for any advice.

TheGreatSnafu Thu 04-Feb-16 18:30:50

Your question is not insensitive and it's perfectly reasonable that you would feel worried about DMD.

I'm sorry I don't know anything about the early signs but you might look for well run online support groups.

Just didn't want to see your post go unanswered - maybe someone else will have some answers.

Alanna1 Thu 04-Feb-16 18:34:02

I dont know but why dont you ask your GP if you could be referred for genetic testing. And if you have another child they might be able to test for this on the harmony test when you are pregnant. Good luck.

TheNewbyNewt Fri 05-Feb-16 08:22:26

Thanks both. I will look for specific forums. We have had genetic counselling already but it might be good to chat to the gp. Thanks.

Bb14 Mon 08-Feb-16 11:13:38

I work for Newcastle university - have you come across our website www. TREAT-NMD.eu there is a section on DMD.

Does he tiptoe walk. The classic sign is the "Gowers manoeuvre" ( look for videos online) he would need a CK test. However if you are not a carrier then it is extremely unlikely. I'massing he is under 3 from your post so it may be early.

PM me if I can be any help. I'm not medical but know a bit from my work on the project.

Thanks.

TheNewbyNewt Mon 08-Feb-16 22:38:31

Bb14. Thank you so much that is a really useful website X

AalyaSecura Mon 08-Feb-16 22:57:26

Bb14 - just wanted to say how great the network is - my mother is involved as an MD sufferer, and she's found it incredibly helpful, such a great example of patient partnership. Years ago I had my genetic testing at Newcastle university, I think it was all very new at the time (negative thankfully) - we were very lucky to have such support locally - thank you!

Bb14 Tue 09-Feb-16 21:38:11

Thanks for the great feedback!

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