Diagnosing CMT in children? - Charcot-Marie-Too...

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Diagnosing CMT in children?

MummyofThreex
MummyofThreex

Hiya, I'm new here just looking for some advice and help with a few things :)

Bit of background, I have two children, ages 4 and 9, whose father has CMT (runs in the family he has it along with his brother, mother and I think one of his grandparents)

My youngest son was recently refered to the hospital in regards to his falling ( 3 falls that required hospital treatment ) we took him for a walk and he fell / tripped 10 times in the space of 5minutes, pains he gets in his legs at night, on short walks he tires easily and complains about leg pain etc.

He saw the consultant at the hospital who said that he thinks my son is hypermobile but only in the knee joints and hands, has diminished ankle reflexes and he has a slightly prominent sternum and Harrison's sulci ( off his hospital report )

My son now has to go for a EMG and nerve conduction study in two week.

Does this sound like he could have CMT? His feet are regular shaped atm not like his fathers, is that a thing that happens gradually?

Has anyone else's children had a nerve conduction test done? How did they cope if so, I'm worried it will be a terrible experience for him :(

doctor wants us to go back in December for blood tests but he wanted to know the type of CMT but no one in the family knows? Can the hospital find this out when they do the blood tests? X

Thank you

9 Replies
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I had nerve conduction testing it was fine not painful at all, I have 2 daughters with CMT too, we had cord blood testing at birth to establish if they have inherited the gene, which they have. There are great physiotherapists out there and orthotics, they are fully active young women.

Hi, we had a similar situation with our daughter falling a lot when she was around 5, we didn't find out my husband had CMT until he started having problems with his hands about 5 years ago. As soon as we looked at the CMT website the first thing that jumped out at us was the falling/tripping. So our daughter had the test and it was confirmed that she had a milder version of the CMT, she was 16/17 at the time. They didn't do as much of the EMG as they did for my husband, it wasn't pleasant but unfortunately necessary to confirm the CMT. I believe they can recognise a specific gene now.

I hope he manages the test ok for you

Hidden
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I wouldn't do the EMG on your son, pain response is different for everyone plus your son is only 4 years old. I would just get the genetic testing done or wait till he's older, you can also see if the father of your son can do the EMG, and whatever results come of the test for him that's what your son would have if he has cmt. I'm having the same problems with my son, he has lots of pains in his legs, has eye issues (nystagmus) and his feet look a lot like mine. I'm going to be taking him to my genetics councillor and she will assess him first to see if he should take the blood work (genetic test) if she feels it's necessary at this time, if she doesn't think it's important at this time we will wait till he's older. With cmt there is nothing you can do for it other then proper shoes, braces for your legs physical therapy and pain management for pain. I was told by many doctors to not test my children if it wasn't necessary, cmt might show up when your young or in your 20's, maybe in 40's and sometimes you might not have any symptoms at all, everyone is different. If you have to pay for the Genetic test and its way to expensive then I would just treat you child as if he has cmt and wait till he is a bit older to do the test. I would strongly Urge you to do a lot of research on cmt or talk to a genetics councillor cause I found doctors to be very useless when it came to education and treatment of cmt, I was even told to look it up by my neurologist. Good luck to you and hope this helps.

Hi, I'm Jane from Australia. I'm female and 49. I have 2 sons and both have CMT. They are 19 and 22. The 19 year old was in hospital 2 years ago with a brain virus. There, a neurologist diagnosed him with CMT and did a nerve conduction test. My son said it was painful but didn't complain at the time. The neurologist said he got CMT from me. We have Type 2. I have all the physical signs. I nerve activity in my feet all the time. I have weak muscles all over my body especially in my legs and back. Scoliosis is a possibility. I have difficulty mobilising and keeping my balance. My son who has been diagnosed, has physio to help his mobility and balance. He still trips all over the house but never when we go out. I noticed my physical signs when I was 13. I didn't get mechanical symptoms until I was 47. But it's different for everyone - I wouldn't do a nerve test on your kids. Its too painful and expensive. Do it on a genetic relation like his father. As CMT is genetic whatever result is father gets, he will get. CMT is a very crippling disease. Whichever type you have, you will have problems of some sort, so does it really matter?

Stay positive and live life to the fullest.☺

Always be happy 🤗

Don't sweat over the small stuff😉

Poor little guy. To my knowledge, there is only one type of cmt that presents in young children. The most common type presents anywhere from early adolescence to mid-adulthood. I was just 40 when neuropathy first got my attention but, looking back over early adolescence, there were certainly early incidents that hindsight tells me I've been dealing with this a lot longer that I first thought. My doctor, here in the US says he'd be happy to give me the blood test to identify which tpye of CMT I have but insurance won't pay for it and out of pocket it would cost me $3500-$5000. I said, "no, thank you". I sincerely hope all things turn out well for your son! I will keep your family in my prayers.

CMTUnitedKingdom
CMTUnitedKingdomAdministrator in reply to SallyH_NCCMT

No that's not right, most types can. My daughter was two! But we'd already had her tested and knew she had it. I know lots of youngsters who are diagnosed early.

Dear KarenCMT,

Just a side note...I was referring to blood tests here in the states. Sorry for any confusion. Best wishes to you and your family.

CMTUnitedKingdom
CMTUnitedKingdomAdministrator

If you want to chat with me or the staff in the office about this, please ring 01202 474203. Both my children have CMT, and were diagnosed in early childhood.

EMG can be painful, but it's usually over quickly. If you know the dads type, it's probably easier just to gene test him, but if the father doesn't know his type, it's a bit like looking for a needle in a haystack!

I had conductivity tests and gene testing paid for by the NHS (in the UK). I have three daughters, one in her early 20s shows the symptoms (type 1a) if you know what you're looking for. As there's currently no medical treatment for CMT, we collectively decided for her not to get tested. There are potential ramifications for insurance, employment etc if it were to appear on her medical record. She's well aware of the condition and how to deal with it now, by keeping fit and avoiding excessive weight gain. Come the day when a medical treatment becomes available she may then decide to get a medical diagnosis.

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