How can you diagnose CMT ?

[Stanleyollie]

Hi there . I would be really grateful for a bit of advice. I am keen to get to the bottom of my symptoms but dont seem to be getting anywhere fast. I am 40 years old and have symptoms for the last 8months. I have always had " hobbit feet ! " curled toes and high arches which have been hurting significantly over the last few months. Cramp at any given oppotunity and also feels like I am walking on my bones ! I also cannot feel 2 toes or bend my big toe.My hands also seem quite skinny and are not as agile as they used to be . Generally my muscles all feel like they have had a massive workout . I am otherwise fit we'll and never been ill . My GP referred me to a neurologist ( based on my odd reflexes )and I had a MRI ( which was clear ) , EMG ( waiting results but the technician said looked quite benign ) . The neurologist tested my reflexes etc and seemed to be more concerned that I may have MS which once scanned and ruled out then just said not sure why your feet hurt maybe a virus. It's only when I started looking myself that feel I fit the CMT picture .

What tests are available to diagnose ? And do you think I should push to see someone else ? If so who ??

thanks so much for reading and replying x x

[Amanita]

CMT is a group of inherited neurological diseases, affecting the peripheral motor and sensory nerves. Because of the faulty nerves , the muscles are also affected. Symptoms vary both in kind and severity, even in people with the same type of CMT, and then even within the same family.

In addition to standard neurological tests, including reflexes, balance, strength of hands and feet, sensitivity to touch etc., plus appearance of feet and hands, CMT can be more accurately diagnosed by nerve conduction studies and a genetic test. The former is done by means of electrodes, and determines the speed and strength of your nerve signals. If they are slow, it suggests faulty myelin (the "insulation") - an indicator of type 1 CMT, and if they are weak, faulty axons (the "electric wires"),characteristic of other types of CMT. Armed with this information, a genetic investigation can proceed. This is based on a blood sample, and should reveal which is the faulty gene. Apparently however, neither test is absolutely guaranteed to be conclusive.

Is anyone else in your family affected? This would be the strongest evidence suggesting CMT ( each child of an affected parent has a 50 per cent chance of inheriting it, though apparently very rarely it can arise spontaneously). If they are, then you should persuade your neurologist to request the nerve conduction studies and genetic test. The results of the latter usually take a few months to come through.

I hope this helps. Good luck!

[Stanleyollie in reply to Amanita]

Thanks thats really helpful especially the nerve conduction part as never really understood that . I will persist . Best Wishes

[spabbygirl]

That's really interesting, I had a similar experience. My feet were always crooked & bent as a child. I had lots of surgery to straighten them as a child (which I'm told they no longer do) and I asked many of the doctors why this was happening. No-one knew & they just told me to get on with life. In my 30's my hands started showing symptoms & still dr's weren't interested. Then I moved & asked my new GP, who agreed it was odd but didn't know why, so he referred me to an orthopeadic surgeon. He said he suspected CMT & suggested a referral to a neurologist who then did a nerve conduction study & when that proved positive a blood test. That confirmed it and said I was type 1A. I was a 'new mutation' as I now know its called, cos further genetic tests on my family showed they don't have it. The blood test did take ages to return, apparently it's quite difficult to do.

Now y 14 yr old daughter has minor symptoms, she gets very tired, & a peaditrician asked to investigate sent her for a nerve conduction study. She had this & the person who did it said as long as I was certain it was type 1A she doesn't have it.. I thought that could really only be conclusivly shown by the blood test, cos her symptoms might be so slight as to not show up on a nerve conduction study? She still gets tired spells, and there are no social reasons, she loves school & is thriving, so no depression etc.

I don't know if I should persist in asking for a blood test?

I quite agree on differences in symptoms though, my 25 yr old son had the blood test when we lived in barnstaple & is positive, but shows very few symptoms, but a different health authority & dr shows a different approach.

Thanks for your help & hope my tale helps stanleyollie, I thought with both stanleyollie & my 14 yr old daughter a blood test would really give the most accurate pictures.

[Stanleyollie in reply to spabbygirl]

Thanks for taking the time to reply . It sounds like the blood test is the definitive answer armed with the nerve conduction results. It would do no harm in getting your daughter tested especially if your son is positive at least you would know either way .

Thanks definitely helped me to have confidence in asking for the correct tests.

[Shazza65]

Hi,

The easiest way to diagnose CMT is via nerve conduction studies and possibly a genetic test but there are so many genes involved they won't necessarily find the right one. I am 48 and hae undergone several tests but they still can't identify the right one. They (the doctors) have now decided that I am type 4 which is a recessive gene. This means that my parents were both carriers and were very unlucky in coming together and having children. So your parents or anyone else in the family doesn't have to show any symptoms. Are your reflexes totally absent, do you have loss of sensation in your extremities, is your balance poor, do you fall over if you shut your eyes? These are all indicators of a neurological condition not necessarily CMT. I would advise you to get a referral to a neurologist who knows about CMT and take it from there. It may be worth contacting a DR Mary Reilly who may be able to advise you on doctors in your area. If you look at the Cmt Uk website you can contact them for the hospital she works at. Hope all this make sense.

[Ally7411 in reply to Shazza65]

We have a family history of a rare cmt cmt1c and it's all hit us just now in late onset and quite a lot to take in but my results from emg and nct results being slow sensory and lower end emg does not look good for my 6 year old who toe walks ? We have Pes Cavus and insulin dependant I have no sense of smell and losing vision dramatically no sensation in both feet they said mild physiology sensory pheriopial neurological currently in genetic research testing but no gp knows not much about it and I might be waiting months to see my genetic neurologist again meanwhile my daughters legs are in pain? We all have absent ankle reflex and my dad just diagnosed with autoimmune giant cell arteries

[Stanleyollie]

Thanks . My reflexes are absent in my foot / leg and I cannot feel some of my toes ( or bend my big toe . ) I will definitely contact Dr Mary Reilly as just have the feeling my neurologist is a little bit flakey . Really helpful thank you

[mia160505]

blood test now can diagnose it ,, and nerve conduction test , to be honest not a lot of drs know anything about this disease,

[John1945]

Hello there Stanleyollie ? (By the way are you related to Laurel & Hardy) ?

Whist I appreciate your right for anonymity, I hope your not taking the p-ss ?

O.K. lets start !

Charcot-Marie-Tooth Disease, C.M.T. and its many sub-type's 1 -6, (always call it a 'DISEASE'), and not a medical 'CONDITION', or a 'SYNDROME' :

C.M.T. is normally an 'INHERITED', and a slow progressively worsening neuromuscular disease, which is usually passed from a "parent to their offspring" ? The symptoms of (toe-clawing/high arches/poor balance/muscle wasting/weakness etc), usually appear in your teenage (growth spurt) years :

However, in 2014, some of our fellow Cmt sufferers, are now being told by their NHS Neurologists, that they have a "Spontaneous" (natural + unconstrained) gene mutation, due to them (the doctors) being unable to diagnose, and trace exactly where their patient got Cmt from ?

C.M.T. sufferers have defective 'MYELIN' sheathing, which is a wax like substance that wraps around, and 'INSULATE/PROTECTS' your Peripheral-Nervous System, these nerves are located just below your skins surface:

These nerve's "signal-strength", that transmit signals "to and from" your brain to your muscles these are called, 'MOTOR/COMMAND' nerves, and also your 'SENSORY' nerves transmit 'TOUCH/FEELINGS' send signals from your fingers/hands back to your brain :

Therefore the 'SPEED/VELOCITY/STRENGTH' of your electrical wave signals going >TO, and >FROM your brain are GREATLY/REDUCED :

As a result, over a long (lifespan) period of time, and due to the LACK of a strong signal to your muscles, during your lifespan, will cause them to 'DETERIORATE/WASTE' :

A 'NEUROLOGIST' must be your "first-port-of-call":

They should take your family history, and instruct a series of tests :

1) 'COMPLETE PHYSICAL EXAMINATION' :

2) Test: 'NORMAL NEUROLOGICAL BODY REFLEXES'

3) 'BLOODS/DNA' tests are usually sent to a specialist University for their analysis :      (allow 6/8 weeks for results) + (very expensive for NHS Hospital Trust (s) at a cost of £8.000/£10,000:

4) 'NERVE CONDUCTION TEST' (NCT) measure's the actual 'VELOCITY/SPEED' of your 'BRAIN to MUSCLE' signals, and also your 'HANDS/TOUCH/SENSATIONS signals back to your brain : (a very uncomfortable test) !

5) There is no known cure at this time, therefore YOU ! must apply 'POSITIVE MANAGEMENT' to accept/manage, and control this debilitating 'DISEASE OF YOUR PERIPHERAL (near to the surface) NERVES' !

Good Luck to you - Tell C.M.T. "So sorry just you get lost, as you ain't gonna beat me" ! ! !

John (Glasgow)

[CMTUnitedKindom Partner]

Professor Mary Reilly is at the National Hospital for Neurology, Queen Square, London. You need the obvious referral from your GP to see her, and you may find some docs reluctant to refer if you're a ways away, becaus of the cost. Bear in mind, she's probably the best in the UK, and therefore, her waiting times are very, very long! But she's a wonderful woman, and worth the wait for a definitive answer if no one else seems to have a handle on the condition.

As far as diagnosing is concerned, I think all the above answers cover it!

Good luck

Karen

[Stanleyollie in reply to CMTUnitedKindom]

thanks so much I appreciate it - funny enough I was in Queens Square yesterday !

I think I will ask my GP for a referral she sounds like she is worth the long wait and have time also we are South so it's not ridiculously far away. I have had feet like this for 40 years so a while longer won't hurt ! x