Can anyone please help me to gain more understanding of cmt type 4?

[L8pdj]

My daughter who is 10 has just been diagnosed with cmt type 4 (j) , please can anyone with this particular type or who had knowledge of it try to make sense of it for me and what we can expect in the future for our beautiful daughter. Concerned mummy, thankyou.

[TB5598]

Hi L8pdj

I would love to give as much help regarding cmt type 4(j), but as I am still sorting it all out myself the best person who may be able to help is John 1945. He gave me a lot of information regarding my level of the condition as I am still confused still. I hope that this will help you and to wish your daughter and yourself well.

[L8pdj in reply to TB5598]

Thank you!

[Shazza65]

Hi, I am 48 and am the youngest of 4 children 3 of whom have CMT. I have just been diagnosed with cmt type 4 by Mary Reilly in London. This diagnosis was based on the fact that there was no evidence of my parents having the condition and subsequently none of the children are affected. Cmt type 4 is autosomal recessive which means that both parents carry a faulty gene and each pregnancy has a 1 in 4 chance of inheriting the condition, a 1 in 4 chance of being a carrier or not being affected at all. This follows the same pattern as cystic fibrosis. Can I ask how the decision was made for cmt type 4?

As far as your daughters future, it is not bleak. Try to give her as much exercise as possible while she is young. She may trip and fall over more often than others, she may lose sensation in her hands and feet. This is a progressive degenerative illness but should not limit her life until she is much older and even then it may not. Everyone is different. Join CMT Uk for £2 a month and this will give you a wealth of information available. Talk to your neurologist and see a neuro physiotherapist for the best advice on how to help your daughter keep mobile.

In the long term she will need to speak to a genetic counsellor for advice on her own decisions about children.

I hope I have helped a little but if you have any other questions I would be happy to try and help.

[L8pdj in reply to Shazza65]

Hi thankyou for your reply it means alot to know there are others with her condition that I can talk to.

As a toddler she was unsteady running and had poor balance as she's got older she continued to fall and trip for no apparent reason,on occaaions now her legs will just give way from her.

We took her to the doctors about her balance etc and after a visit to pysio it was it was the young lady who saw the possible symptoms of cmt,she had blood tests and a electrode test in Birmingham childrens holspital and on friday after 12mths of waiting for appointments and reports to be put together she was diagnosed with cmt type 4.

She is very active swimming tennis although yes all the signs of cmt are apparent when she runs but she enjoys it.

I left the hospital feeling deflated and really frightened of what this means mow for the future for her she is only 10.

They have advised for my husband and I to have the test to see which of us has the gene but she said is likely it just appeared in Aaliyah herself.

[Shazza65]

For your daughter to have it I am sure that both parents have to be a carrier. It cannot just appear as as been suggested. Have they identified the specific gene? this is quite difficult to do as there are so many. I am pleased that she enjoys sport this will benefit her greatly. Make sure her school is aware of her difficulties so they don't expect too much of her. I was always forced to do the balance beam which of course was impossible. Please don't be frightened there is a lot of information out there so please try and access it.

I have led a fairy normal life, been in work, had two children and have a wonderful husband. Yes, I have to make allowances for my condition and adapt but it really isn't the end of the world.

[L8pdj in reply to Shazza65]

Thank you I'll do as much research as possible,youve already helped by telling me what you know..it frightened me that they said it was so rare type 4 and of course looking on the Internet dosent always help what you read.