Am I a carrier of CMT: My son in his... - Charcot-Marie-Too...

Charcot-Marie-Tooth UK
1,431 members588 posts

Am I a carrier of CMT

My son in his forties was diagnosed about 8 years ago in South Africa .

I think he said it was type 1 , he said the Nurologist said I passed it on to him, it really upset me to be honest, I. have had different problems with numbness and tingling in my legs / feet for years , I have not seen anyone about this as there is always something else to worry about.

What I am asking is, .....can I be a carrier and have this disease myself.

So far as I know my daughter and other son are ok ( in their 50,s)

Thank you .

Linnikins

24 Replies
oldestnewest

Linnikins , my husband got it from his mother and almost all of her 7 brothers and sisters showed slight signs of it throughout their lives. My husband and one cousin have the most symptoms. I do not know if you would call his mother a carrier or not. Her feet were similar to my husbands but not as bad.

Reply

Thank you for that info, to be honest I had never heard of this before my son told me he had it , it seems it can be very debilitating, does your husband have any numbness in his feet or do they hurt.?

Do you know if I can have some test to see if I have it.

Thanks

Ps is your name Marilyn or Marilyn?

Reply

I knew my husband had it when we got married but they didn’t know a whole lot about it back in the early 70’s. Our son has it also.

My husband has intermittent pain in his feet (neuropathy) and takes meds for it when it happens. He has very little feeling left in his feet (he will be 73 this month) but that happened over many years. He has little feeling or dexterity left in his hands and I have had to put a loop of thick string on his zippers so that he can zip his pants and he has a tool, from the Arthritis Foundation, that helps him button his shirts. He can still cook amazing meals though. He wears braces (AFO’s) to keep his feet from dropping down at the toe and tripping him. Without them he was falling a lot. He thought the braces made him look weird and would not wear them but after one to many falls I told him that if he fell and broke a hip or leg he would have to go to a nursing home or rehabilitation facility until he could get around on his own. He quickly got new braces and never goes without them now. He is very unstable, while walking or standing, unless he looks down to see where his feet are. That is why he pushes a buggy at stores or uses a walking staff when on uneven ground.

He apparently had problems with his feet as a small child and they diagnosed it as polio. Over the ensuing years he had many operations to stop his feet from curling into balls (he said that he never wore the bottoms of his shoes out just the sides) and to straighten his toes (which ended up curling back under). The Navy doctors diagnosed him with CMT at around age 22.

Reply

Oh, and my name is Lynn, morllyn is the first part of my email address.

Reply

Oh thank you so much for taking trouble to reply, it helps me quite a bit with my search into this horrid disease, bless you and yours Lynne.

1 like
Reply

Hi Jane from Australia. I'm 49 and I have type 2. My son was in hospital 3 years ago with encephalitis under a neurologist. He diagnosed him with Cmt, said he got it from me. I was so upset. Later I developed nerve pain and went on meds. Saw him and got an official diagnosis. I get numbness in my feet and hands. Weakness in my legs and arms. Can't sleep on my side due to saw shoulders. I use afo's due to foot drop n unstable ankles. Thanks mum

1 like
Reply

Thank you so much Jane, yes, I felt upset to think I might have passed this on to my son, I will see my Doc about some tests, but at mo I have been told I have Gallbladder stones and awaiting procedure so one thing at a time , Hope you and yours well and positively.

Lynne

Reply

Dear Linnikins,

CMT is usually inherited from a parent, although rarely spontaneous mutations can arise. There are several different types of CMT which have different inheritance patterns and each type varies in severity and age of onset in different members of the same family, carrying the same mutation. Type 1A is a dominant autosomal mutation so will be expressed, to some extent, in everyone who carries that mutation. However some members of the family may have more severe symptoms than others. Half the offspring of carriers of dominant mutations will inherit the mutation.

You need to ask your son to get a genetic test in South Africa to determine the mutation he carries, then you, and your other children can be tested to tell whether any of you carry the mutation. It sounds as if you may well have CMT, in which case diagnosis and treatment should be a first step to imroving your life now and delaying deterioration. Good luck

RE GREEN

Reply

Wow knowledge, thank you so much for info, I have asked my son to let me know what type he was told he has, and will let you know as well as all the other lovely people on here, bless you.

Lynne

Reply

Hello again, my son has just emailed to say he has HSMN 1 do you know what this means ?, I have had a wonderful message from Amanita with lots of info, to help, I as mentioned will go to sort myself out when possible but now worry for my sons two daughters age 14 and 16, no symptoms as far as I know, also would you know if those foot stimulater machines can help or hinder my numb feet.sorry to be a pain.

Thanks.

Reply

guessing HSMN is HMSN which is hereditary motor sensory neuropathy . It is a different (older ?) name for CMT . I've also heard it called foot drop and peroneal dystrophy ( CMT was previously classified as a subtype of muscular dystrophy) also peroneal muscular atrophy.

From Wikipedia

Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable,

Symptoms can vary a lot even for members of the same family.

Reply

Hi, Linnikins,

RE Green has given you a good summary of CMT and inheritance.

I had an unofficial diagnosis of CMT when I was 40 - my aunt (who had had problems since childhood and had been diagnosed with it) took me to see a research neurologist . He took a cursory look at my feet, checked I didn't have a knee jerk reflex and bluntly told me I had CMT - that it would get worse and there was no cure. I had never heard of it and rather felt I had been led into an ambush - so instead of seeking medical advice I buried the whole thing under my psychological carpet, until years later when I was failing to cope with my - by then - disabled (not CMT) husband. Only then I asked my GP to refer me to a neurologist. Yes I did indeed have CMT ( type 1A.)

In retrospect it is clear that my mother had CMT - she tripped and fell quite frequently and had high insteps and a rather awkward gait, but died when I was 27 without any diagnosis; very little was known about it then anyway; people didn't talk about it and were just expected to put up with things. She and my aunt apparently inherited it from their father who died before I was born. Of his four descendants (my mother, two aunts and me) three inherited it.

Also in retrospect it explains why I was so outstandingly useless at school PE and gym lessons, which I actually dreaded - and was baffled because there was "nothing the matter" with me. "Sport" is still a pretty bad swearword as far as I am concerned.

A combination of CMT and arthritis were responsible for my aunt's severe disability in her later years, and from what she said I think she was much worse affected in childhood by CMT than my mother. My mother misguidedly sent me off to ballroom dancing lessons in my teens "because she had enjoyed dances so much at that age" ; of course I hated every minute and never knew where to put my stupid feet. My mother's hands and wrists were always quite a lot stronger than mine, and in her 20s she apparently went for 50 mile bicycle rides with her unaffected elder sister; at that age I did once manage nearly 15 exhausting miles spread over a whole day - but count myself lucky I was taught (very patiently by a neighbour) to ride at all .

CMT apparently affects one person in 2500, and by its nature it occurs mostly in family groups, so it is hardly surprising you hadn't come across it.

Please don't feel upset or guilty about passing it on. You had no knowledge of the cause of your symptoms and might not even have had them when you became a parent.

As RE Green says, you would do well to get yourself referred to a neurologist- so that help may be available when you need it .

Meanwhile it is important to exercise and keep mobile - without overdoing it (a little and often is best) - that will help you in the future. I am sure the weekly 4 mile country walks I had with my husband, together with my weekly one mile's round trip to the shops on my bicycle for many years helped delay the onset of the disability which I am putting up with now. Even now I go to an aquatic exercise class (for people with physical problems) twice a week.

Reply

Aargh thank you Amanita,

So nice to have detailed answer, I have asked Re green about my sons HSMN 1 diagnosis, not sure what it means. I have been racking my brain to try and think if my parents had any symptoms I think I would have known as I looked after my mum the last 5 years of her life. Thank you for your comforting words It is quite a shock to hear I might just have this CMT myself today, I will Definitely keep active and walk as often as possible. My feet feel like they are attached to elastic bands when I stretch them, and having restless legs for 50 years doesn't help, grrhh ! Well that's my moan for today, so many lovely people on here.

Thank you once again.

Reply

Dear Linnikins,

At one stage doctors attempted to rename Charcot Marie Tooth disease as Hereditary Sensory Motor Neuropathy, which name your son's doctor in South Africa is obviously using. What they haven't told him is which division of type 1 he has. It is probably Type 1A as that is the commonest of all types, but you do need to know the exact mutation to get the rest of the family checked out.

CMT or HSMN Type 1 are mutations which cause the breakdown of the myelin sheath around the nerves so that they are no longer properly insulated and electrical nerve impulses leak out as they pass along the nerve. This reduces the power of the impulses so that muscles no longer respond properly to impulses from the brain and sensory inputs from the extremities no longer reach the brain as they should. As this is the commonest form of the disease it is the focus of most research and there are some developments that may benefit patients in the future.

Type 2 and the other much rarer types of CMT/HSMN are caused by mutations which cause the death of individual nerve fibres so that the nerves themselves gradually become insufficient to transmit nerve impulses in either direction. This is the type my family have. Although my sister and I inherited it from our father, it has affected us all in different ways and with different degrees of severity. I am affected severely in my motor nerves, but my sister is affected almost entirely in her sensory nerves and our father had both affected.

Keeping active is really good, but do get a diagnosis and advice so that you don't do more damage by pushing yourself too hard or doing the wrong sort of exercise. Don't give into it but don't reject all the help and advice you can get to make living with it easier.

Good Luck,

RE Green

Reply

Yes he says type 1a, also to remind me he had encephalitis when he was two and wonder if that might have been the cause.? As you say I will have to get checked out , but at the moment I think I do have it, read that two signs (eye squinting and teeth grinding ) can be a sign ! Can't believe I have been doing same for quite a few months now ! Sorry to go on but feel you understand my concerns, went out today and when walking my feet were so painful, ! Came home and took ibuprofen tab .

I hope you are ok and your health is not too bad.

Take care Lynne

Reply

Thank you Regreen, Just to say I have just messaged my son to ask him, will come back when I know, thanks for advice again, Lynne.

Reply

Hi, Linnikins,

I have looked up encephalitis, and cannot see that there is any connection between that and CMT/HMSN - as the causes are totally different. Seems to me that having both is just very bad luck. I have never heard that squinting or teeth grinding are associated with CMT either.

Painful feet, numbness and tingling could well result from having CMT, however.

It is easy for me to say, but do try not to be too alarmed by the possibility of having CMT. It typically "progresses" (i.e. gets worse) very slowly over your lifetime, and with some modifications to the way you tackle things, and if necessary, devices to help with mobility - is liveable with. A small proportion of people are unfortunate enough to have very severe CMT, so that they are wheelchair users from childhood, while some others can walk unaided in their 70s.

Typically CMT/HMSN 1A has made itself noticeable by ones teens (e.g. clumsy feet and tripping), so try to keep optimistic that your granddaughters may have not inherited it. (each child has a 50% chance of inheriting it from an affected parent).

After you have been seen and examined by a consultant neurologist, the type of CMT/HMSN may be determined by a genetic test, done in a specialist lab, from a blood sample. It is very expensive for the NHS (c.£3000?) and takes months, but can pinpoint the gene which is faulty. Another method is a nerve conduction test to measure the strength and speed of signals passing along your nerves. In a way these results are academic at the moment as currently people are treated for their symptoms (e.g. exercises, assistive devices, pain management) - while research is being done into finding specific genetic solutions.

Try to keep positive.

Good luck.

1 like
Reply

Hello again, thank you for taking the trouble to answer my questions. I have taken on board what you said re my son, I will let him know. Do you know Amanita, I honestly cannot remember where I read about the squinting and teeth grinding thing ! But I did read it in the last week, just felt strange as I noticed myself doing these two things ha! I also had a strange thing in 2010 with itching, I thought I had caught flees from my grandchild after a visit to SA but after the doc checking me out several times, and finding nothing, After a routine check in the October it I found that I had breast cancer ! After my op the itchiness disappeared ! Weird or what ?

Anyway , when I have had my gallbladder op I will see the doc and hope he has heard of CMT .

Thanks again, hope you have a painless day. Lynne

Reply

That looks like a constructive approach, Lynne: sort out the gallbladder, then think about CMT.

There is a great deal more information around on the internet now than 6 years ago when i was formally diagnosed. I think probably the most authoritative and helpful sites are Charcot-Marie-Tooth Fact Sheet (http://www.ninds.nih....etc) and Charcot-Marie-Tooth disease - Symptoms and Causes - Mayo Clinic (and click on "diagnosis and treatment"). There is also the CMT United Kingdom website. There is quite a lot of very good information on there, and they have an office which you can phone for further information and advice ( - and you will probably be encouraged to join).

If that is your husband with you in the little photo, I hope he is being very supportive and understanding.

Thank you for your good wishes.

Reply

Yes, that is John, we met 12 months after my big op , (life after cancer ) wonderful really, yes he is supportive but to be honest Amanita he has been through the mill years before, Bless him he lost two children at 14 yrs old, at different times, that was a genetic thing, I can't pronounce it but destroyed him .

So I am trying my best to be "well" for him as he worries so much. I got my legs up at mo , earlier this morning I was putting some clothes away in a cupboard and didn't see this metal ladder propped up, anyway it slid down right on my shin ! , did I cry gosh blooming sore ! So I'm feeling sorry for myself. But then I have to remember a line in a verse I wrote donkey,s ago, it was "don't moan when legs, arms ache, your lucky to have them for Gods sake , think of all the things you've got and not of all the things you've not " ha good ole days.

You take care,

Lynne

Reply

Hello Lynne from another Lynne, I wasn't diagnosed till I was in my 30s after 6 or so operations to straighten my crooked feet. No-one in our family had it & the dr said it was a new mutation. RG Green above is right. In the uk they took samples of my parent's blood and neither had any sign of the faulty gene so that proved mine was new. Only 1 of my children has it & he has few symptoms & I was devastated to have given it to him. But he said he'd rather be born than not be born so I'm ok about it now. Mine is type 1a, the most common sort. I stopped nursing & moved to social work, because it involved less walking. I think 'hereditary muscular & sensory neuropathy' actually describes the problem medically, cos a '...pathology..' refers to a condition, '...neuro..' is nerves, the rest tells where the problem is. Charcot, Marie, Tooth are the 3 neurologists who identified it in the 1890's. Do I wish one of them had not been called Tooth cos I've been asked several times what is up with my teeth!!

Its a shock at first, then you learn to live with it. I remember thinking I had to learn to trust it, which is strange at 1st cos its something we don't want in our bodies. But I trust it now not to get too bad too quickly. Best of luck to you all.

Reply

Hello, thank you for your advice, really appreciate the info, yes I agree about the name Hereditary muscular and sensory does sound better than our CMT.

Just read the latest comments re CMT as being life threatening, scary, I'm so worried for my grand daughters, don't know what to think now.....suppose I'll have to read up more info !

I hope you are ok and your health is not too debilitating, bless you, stay as well as you can be. Lynne

Reply

If you would like further information about CMT, please don't hesitate to contact the CMT UK office on 0300 323 6316 or email enquiries@cmt.org.uk.

I think everyone has said pretty much everything I would have done, but for more information, go to cmt.org.uk - it'll tell you everything you need to know.

Reply

To be honest, you or a close relative passed this on to him, and yes, if you have the tingling etc. it was probably you. This could be proven to you with a rather expensive, at least it used to be, blood test to read your DNA. Think back to people on your side of the Family to remember if any of them had problems with their feet or swelling of their feet or legs or pain in their legs or very high arches and curled toes. All of these traits can be CMT.

My Mother gave me CMT, but didn't have all of my problems with it. The important thing to remember is that every case of CMT is different and comes with it's own set of rules and at different times and in different order of illnesses. For example, I have lost almost all of my hearing, but this never happened to my Mother!

Hope this has helped a little.

Hugs,

Alice-Ann (I'm 80 and we must all keep learning and FIGHTING!) Your life is NOT over!!!!

Reply

You may also like...