I have been recently diagnosed...

[Newyork2015]

I have been recently diagnosed with CMT, what is the difference with types i.e. 2 etc

[Amanita]

hi, Newyork,

I guess we might not be the best people to ask for an overview of ALL types of CMT, as each of us is familiar with our own type, but not all the others. You might start with some information on the internet - NINDS and CMTA both list a number of different types, with some information about them. My attempt to answer your question can only be a simplistic and incomplete summary.

Perhaps people with some other types of CMT will be able to tell you more about them.

The broad difference between types I and 2 is the structural cause - if you imagine your nerves as electric cables for passing information ( e.g. instructions telling a muscle to move, or a message telling you that you've just touched something hot, etc), then in type 1 it is the insulation round the wires that is faulty, so the signals are slowed down, and in type 2 it is the electric wire itself that is faulty, resulting in reduced signals. The result of both these errors is that the further the signal has to travel, the worse its quality, so you will be likely to have weakness and reduced sensation in your feet, ankles and lower legs - and hands and wrists. You may have problems with balance, and falls. Individually, symptoms vary widely, in their nature and severity, even within the same family. Unfortunately these will worsen - generally pretty slowly - over the years.

Whether it is the "insulation" or the "wires" that are causing the symptoms of CMT can be determined by nerve conduction tests - and which individual gene is responsible for your CMT problems (i.e. which type of CMT you have) may be determined by a genetic test (blood sample sent to a specialist lab - expensive to do and results may take several months to come through). However with some rarer types it may not be known yet which gene is at fault.

I suppose when it comes down to it, an important reason to need to know the type is if you are planning to start a family ( with CMT1A, the commonest form, if one parent has it, each child has a 50 % chance of inheriting the faulty gene). Otherwise it is a question of dealing with your symptoms, whether it is by suitable exercises, supports for your ankles, or painkillers.

You do not say which type you have been diagnosed with (- maybe you are waiting to hear ?), whether you have other family members with CMT (it is usually inherited but can arise spontaneously) or whether you have seen a consultant neurologist.

In any case. I hope you have good friends (or family?) around, who will be understanding, and a great support to you.

[John1945 in reply to Amanita]

Hello to Amanita......

Nice one !

Game - Set - Match !

Your post was a 1st class description of Cmt Disease,

and all of it's "many-many" daily frustrations.....

Best of health......

John (Glasgow)

[Amanita in reply to John1945]

Thanks for the vote of confidence, John

[Newyork2015 in reply to Amanita]

thank you so much Amanita - this has been invaluable. I will look into those 2 internet sites as well. from those explanations its type 2 that I have.

What type of exercise is suggested? I guess we all have to find the one suited to our own, I find walking very difficult and quite painful now and running has been out of the question for about 25 years but just put that down to me being clumsy.

[Amanita]

Thank you, Newyork,

I am so glad you found my reply helpful.

The problem with exercise is that although we may share a few out of a range of possible CMT symptoms, you are right - we are are all individuals, so what might be a good exercise for me ( I have Type 1A ) might not be so appropriate for you. I can only say that years ago when I could do so, going for a weekly country walk (up to 4 miles and nothing strenuous) with my husband, regardless of weather, must have done me a great deal of good. I'm sure this was partly because although I found it tiring, we both enjoyed it so much. Now I am alone and really struggle to walk with crutches, I still try hard to keep mobile - however I feel I get more actual benefit ( slightly improved balance ?) from an aquatic exercise class for people with medical needs. It is certainly more fun, being in a group. You will see that for me there is a subjective element here !

I think your best course of action is to try to have yourself referred to a neuro-physiotherapist ( a physio. who specialises in helping patients with neuromuscular diseases) - who should assess you, and prescribe a selection of exercises designed to help you as an individual - and then make sure you understand how to do them. I am assuming - maybe incorrectly - that you have been seen by a consultant neurologist - who will be able to refer you to people with other skills - (e.g. physio, occupational therapy, orthotics) - while keeping track of you and your CMT with regular appointments ( perhaps annually, after initial diagnosis).

I understand that with various types of CMT the important thing is to exercise regularly, but never to exercise too vigorously.

I do hope you will be able to get proper professional help with the exercises, and other practical aspects of dealing with your CMT.