Possibly CMT: Hi all, Since few years... - Charcot-Marie-Too...

Charcot-Marie-Tooth UK
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Possibly CMT

Hi all,

Since few years I've been sick with a.o Crohn like disease and Undifferentiated Connective Tissue Disease. Begin this year I got mobility problems. Ugly pain in my thighs and upper legs muscles refusing to walk after 15 min of walking/standing. My rheumy said to get more exercise. I did but my problems stayed. I went to the neuro, he said I had proximal weakness 4/5 but didn't know why as needle EMG and nerve conduction test in my wrist proved to be normal. This was about 5 months ago. After that my feet started to really hurt and the achilles tendon turned out to be inflamed and thickened. My podotherapist said my foot became pes cavus like and subscribed inlays. About two months ago I noticed my feet turning outwards and hollwower and toes curling up (see picture). Since about one month ago I cannot walk more than 10/15 min as my feet hurt like hell, even in bed catching sleep is not easy. Especially below my ankle it feels like a hammer is pounding. I also notice my leg is getting thin around my shin and close to my feet. Those muscles are atrophying. And I often get strange tingling sensations around my shins and in my feet.

For the pain I got celebrex subscribed by my rheumy. I only use it for a few days and I don't get any relief yet.

I believe I may have CMT but cannot match the thigh pain with it. In two weeks I'm visiting another neuro hoping he can and will offer me help.

I bought a wheelchair two months ago as I still want to go out for a museum or zoo visit.

Does my feet and symptoms sound like CMT?

Greets and hugs,

A 40 Y/O woman (BMI 19.5)

20 Replies

One addition to my story above.

Since a few months my knees to toes are icy cold. I just cannot get them warm even not in bed with warm knee socks. Really odd.


Hi, ask your GP for a blood test and this will let you know either way. I couldn't say for sure if it sounds like cmt, some of your symptoms are characteristic of CMT, everyone experiences it differently though. Have a word with your GP , I hope you get some answers soon. x

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Hi Kraft-e-kids,

Thanks for the quick answer. How much time does it take to find out in a blood sample if someone has CMT?

I will visit my GP this week. My rheumy asked me to walk on my toes and heels and I cannot walk on my heels without my toes dropping which she tought was very interesting.

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I am not sure how long it will take for blood test to come back, I had mine diagnosed about 20 years ago I was still young at the time , I had nerve tests and other tests done too. There is lots of different symptoms some you have and some you don't. Drop foot is common with it as well. Your GP may refer you to a neurologist.


Thanks for your answer!

How are you doing now, 20 years later?


Hi, sorry to read about your pain and suffering. I'm awaiting a diagnosis of CMT and have just been advised by the consultant that my results will take 6-8 months! I was shocked but apparently it is an expensive, complicated genetic test so obviously it takes time but will be worth the wait if we get specialised physio and treatment to make life more comfortable! I wish you well 😊 Xx

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Thanks, appreciate it.

On base of which symptoms your doctor asked for the genetic test?

Good luck and much strength for you as well!


Hello to Booboo22......

Just a quick point ?

As we all know, the NHS United Kingdom is "strapped-for-cash" :

Remember each NHS consultant(s) also have a strict financial budget that they have to adhere to:

They require to prepare a proposed patient treament plan + current costs to their hospitals management team, before receiving, authority to proceed:

Cmt Disease, (always call it a disease) can only be diagnosed by a 'professional', NHS Consultant Neuologist :

The only positive way to diagnose Cmt Disease, and it's many "sub-types", is by DNA testing, in which blood samples are usually sent off to a "specialist" and, a University Laboratory at a current cost of £8,000 (circa) :

The usual timescale for the results varies, between 6 /10 weeks:

All the other tests, can be arranged locally by the NHS Trust(s):

> Nerve Conduction Study:

> Nerve Biopsy:

Best of health......

John (Glasgow)......


It took three months (roughly) to get my blood tests back, although the hospital did know which strain of CMT (1A) to look for as my dad had been diagnosed a couple of months earlier - they had to check the PMP22 gene. It didn't take as long for my son to get his results, or my daughter.


Thanks for your reply DawnD!

Three months is a long period but at least it was not six months.

Do your children also have CMT?


Hi Patricia. I have three children - my eldest has not been tested, my second child - a young man of 23 now - does not have it, but my youngest, a daughter, does. My Dad was adopted, so we had no family history. I have three siblings and, although none have been tested, one of my sisters has it as two of her sons have tested positive (the other one as not been tested). She does not show any symptoms though, so has it very mildly.


Hi. I'm waiting for a definite diagnosis too. Go for nerve conduction tests on Wednesday... This may sound strange but I hope they do show something... or I expect a battle with my neurologist about getting the gene blood test done!

You mention about pain in your thigh muscles. I get that too... it's like a burning, tingling sensation... feels like I've run a marathon! I have no proof of this but I think it may because my thigh muscles have to work extra hard trying to compensate for the weakness in my lower legs and feet. Having said that, I haven't come across anyone with confirmed CMT talk about thigh pain yet.

Hope you manage to get the necessary tests done and some good help/advice on how best to manage your symptoms. Let us know how you get on.

All the best. Ros

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Hi Ros,

Thanks for your response and good luck with your nerve conduction test! I have had one in my forearm. It is a bit painful but only for some seconds. My test didn't show anything wrong.

I know what you mean, if you suffer that much from a condition and from people not understanding it, it can be a huge relief if something wrong can be found.

I hope the test will get you closer to a diagnosis!

Wow, the way you describe your thigh pain..it sounds exactly as mine. And yes that is also my hypothesis. That they have to work extra hard te compensate for my lower leg and feet muscles.

Keep us informed about your test result (if you want to).

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I'm getting the test because my dad has just recently been diagnosed with CMT1a also I have the typical CMT feet! I went to see a physio last week and she was horrified when she saw my feet and said that I need a podiatrist! I haven't been referred yet as I thought it would be best to wait for the diagnosis but my feet seem to be getting worse so I might go to docs soon! The joys of CMT!! Xx


Thanks Booboo22 for your reply.

My podotherapist said I have pes cavus feet and my dorsiflexion was very weak.

How do your feet look? Like mine or worse?

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Not sure how to import a pic but my toes seem more curled than yours and my arch is really bad. I've always known they weren't normal but thought they just ran in the family...which CMT must do. Dad has been diagnosed and I'm sure his dad must have had it but died years ago. He went to get shoes made and they refused as they said they would look stupid as they were only a 5 in length but 10 in depth and width, they were definitely strange looking but he never seemed to complain of pain or anything. Dad only got tested due to him having frequent falls (sometimes 4 in a day) and they have confirmed that it is due to the fact he has no feeling in his feet so doesn't feel himself tripping. I am very clumsy but also get lots of pain in my feet legs and hands. What have they suggested for you? Xx


Dear All,

As there are over seventy genes known to cause CMT of different types and more being discovered, you may not get a definite diagnosis by genetic test. If you have Type 1A the matter is straight forward, but if you have Type 2, another form of Type 1 or one of the rarer forms you may not get it quickly or at all. My family have Type 2 of some sort, but not any of the known mutations causing this form. Nerve conduction tests can indicate whether you have a demyelinating form (Type 1) or a form where the nerve fibre itself is directly affected (Type 2).

Good luck,

RE Green

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Hi RE Green,

Thanks for the fast response and good information!

The thing is I don't have much information about my family, most of them are dead. My parents live thankfully, they are in their seventies and the only thing I know and noticed is that my mother always had bad painful feet. But they seem not as bad as mine is now.



I do hope your appointment with the second neurologist will be helpful. It would be a very good idea for you to go prepared with a brief written history of the onset and development of your symptoms (your GP may not have told him/her anything), and a list of questions you want to ask.

Your pes cavus and cold feet sound CMT-ish, but the onset and deterioration do sound very sudden for CMT, and it seems odd that your nerve conduction test didn't show anything - but I am not a health professional.

My blood test took about nine months to produce a result. They are done in a specialist lab, so maybe they have to wait until there is a sufficient number of specimens to test to make it economically worthwhile (even so, I believe it costs the NHS several thousand pounds per specimen). Not all types of CMT can be diagnosed/confirmed by this method, as there are so many different genes involved, any one of which could be abnormal.

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I had been experiencing foot pain and plantar fasciitis. I was desperate to find a shoe that could get me through a day of walking without pain. Well I found it, the orthofeet not only gives me the foot support and pain relief I needed; they are also a good looking shoe that can be paired with many different outfits. The shoes took me about three weeks to wear in so that they were comfortable enough to wear on a 4-8 mile walk.

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