Log in
Charcot-Marie-Tooth UK
1,312 members531 posts

Can anyone advise me?

My nephew has been diagnosed with CMT1A ( PMP22 and LRSAM1) - his mum and dad have been tested and my nephew has inherited the PMP 22 (dominant gene) from his dad (my brother) and the LRSAM1 (recessive gene) from his mum. Although my brother seems ok, they think he may be affected. I find all this very difficult to understand and apologies if I have got anything wrong here. My brother sent me all the relevant documents but it's not easy to get my head round it! I'm wondering if I should get tested (I'm 67). I have a son and daughter and my daughter has three children. I'm not too concerned about myself but I am concerned about my children and grandchildren. They all seem fine, but I understand the effects of this can make themselves known anytime between 5 and 25. Can anyone give me some advice?

10 Replies
oldestnewest

Hi Irene. I think it would be prudent for you to be tested for CMT1A, as there is a 50% chance that you would have it - if a parent has it, all offspring have a 50/50 chance of having it. If you are negative, then that will mean your children will also not inherit it. Although you say you show no symptoms, you may have it very mildly. My Dad did not really display any signs until he was in his late 70s and started falling over. Once he was diagnosed, I took a copy of the hospital letter to my GP, who said straight away that it looked like I had it (I have always had high arches, very wide feet, weak ankles, no reflexes). It had not been picked up before because there was no family history of it, as my Dad was adopted, and he had it so mildly that it didn't affect him much.

Testing is done by a simple genetic blood test. It might take a couple of months to get the result, but your GP should be your first port of call.

1 like
Reply

Hi Irene, Dawn is right, get tested. a person can just have it with no family history cos thats what happened to me. Its called a new mutation and the gene is faulty at conception. after that its hereditary. My son has it but so little he barely notices it. Symptoms might come later though and his children have a 50 50 chance of inheriting it. I think you have a good understanding of it, its quite a lot to take on when its new! There's lots of help here if you need it though, pop back

3 likes
Reply

Thank you both very much.for.the advice. I'm always ricking.my ankles but just put it down to them being weak! I've taken many a tumble.over the years. 😠 I'll definitely get a test done.

1 like
Reply

That sounds like CMT. All the best, Lynne

Reply

Even though it might not show up it’s still good to get test done. I have cmt 1a my feet and hands don’t work right my daughter also have it but my son don’t ive been living with cmt since a baby I’m now 27 and married with two children lots of time I need help with earrings combing my baby hair opening stuff my motor skills sucks so That mean it’s hard to do a lot. I walk ok. But I’m trusting in Jesus to heal me I know he will!

1 like
Reply

My dad had some symptoms of cmt and didn't realise. Both parents died before I was diagnosed at the age of 52. Recent years I've found out my paternal niece has type 1a like me. She has twin girls and one of them have got it. So it's obviously running on my dad's side. My brother is negative. I have no children .

1 like
Reply

I agree it would be a good idea for you to be tested for CMT. The genetic test is done from a small blood sample which is sent to a specialist lab. In my case it took 9 months for the result to come through. I believe it is very expensive for the NHS, but if they know from your family history which gene they are looking at, then maybe it would be easier for them. There are other diagnostic tests, from the simple testing of your reflexes to a nerve conductivity study which would detect either slow or weakened nerve signals - or with luck - normal ones if you don't have CMT.

You don't say if your brother has actually been tested. CMT can arise spontaneously, after which it can be inherited from the affected individual.

Typically Type 1A will have shown symptoms by ones teens if not much earlier. It isn't always typical though. If you keep turning your ankles and falling that might indeed suggest possible CMT. Do your feet have extra-high arches? do you struggle with buttons, brooch fastenings etc? - or getting tops off bleach bottles? Can you sew?

I am pretty ignorant about recessive genes. Maybe your nephew's inherited recessive LRSAM would only cause a problem if his partner/future partner had the same recessive gene...?. You may need to do a bit more research there.

Best of luck. If you do turn out to have CMT I hope it will continue not to bother you too much, and of course i hope it has not passed on to either of your children.

1 like
Reply

Booked an appointment with my GP for next week so I'll let you all know how I get on!

Many thanks for all your replies.

1 like
Reply

That sounds like a good start, Irene,

The GP may be able to do some very elementary tests e.g. for balance and reflexes. He/she may well never have heard of CMT, though, so it might be as well to take a little introductory information about it with you in case (mine looked it up on the internet). You may find you need to use a bit of persuasion to get him to refer you to a neurologist. If I had not been fairly insistent i'd just have had to make do with a session or two with the visiting Practice Physiotherapist, and a fat lot of help that would have been ! However if your balance and reflexes are perfectly normal it may be a bit harder to insist on being referred.

Looking forward to hearing how you get on.

Reply

My brother sent me copies of all the letters from the geneticist, which I'll take along to my appointment.

Reply

You may also like...