New Here....Couple of Questions as a bit confused!!

Hello to Everyone.

I have been told I have Chronic axonal sensori-motor peripheral neuropathy (presumed CMT2). I have read about this in your CMT Blog. I do not know about sub types etc. I would like to find out more about this especially as my daughter has the classic hammer toes and high arch feet and has started to have problems with her back and now with running.

Can anyone explain about hereditary, how the genes work and if it is likely I have passed this to her. Can you tell me if I should be tested and where I can go to get this done please.

Secondly can anyone tell me where is the best Hospital that has knowledge of this condition (is there a centre of excellence) or can you recommend any Doctors with good knowledge that I could go and see or be referred to. I live in the south.

I have bad knees which may need replacement but want to see how much this condition is playing its part before I make a decision on surgery.

Any advise would be helpful. Thank you. Vic

9 Replies

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  • i have cmt 1 a hands an feet type .ask your gp to refer you to a neyrologogist who can do tests an a orthoaedic cmt is quite on often passed on my dad an his mum had it she could not walk there aren't many doctors or specialists who no much about cmt sadly

  • here is some info on cmt 1 a which i have hope it helps i have had ops on both feet an afos on both an hand supports on both hands

    hi i was diagnosed at aged 6 with cmt 1 a (pma) . i also have cah not related now 35 HI

    I have cmt type 1 a .i have foot drop on right had many ops on both feet i where afos on both feet an wear trainers i walk with a rollator to occasionally a walking stick,.

    I live in skirts an dresses .never cover them up.i have very weak legs high arches curled toes an very weak arms an pain in both always aching.

    Hands feet get very sore my fingers are starting to bend an i am losing my grip an feeling. find it difficult holding pens an writing even with pen grips have to use straws.i have a buton zip tool.an graber reachers.i have every kitchen going for bottles lids an tops can openers jar openers peelers etc an house hold tools an personal hair brushes etc.i am unable to lift heavy items.

    my wrists are weak an drop.as like foot drop.i have wrist supports also.take tramodole an pregabalin for pain.getting referred to neurologist orthopeadic an pain clinic for more tests.have got really bad in last 2 yrs.have mild arhritis an breathing probs.constant back ache burning feeling in parts arms etc.get sore hips thighs an knees sometimes grinding of bones.can't sit or stand for long i keeping moving around.

  • Hello Vic, SOME FURTHER INFORMATION TO ASSIST YOU UNDERSTAND C.M.T. >(sorry it's so long) !

    Charcot-Marie-Tooth Disease (Cmt): Is the names of the three professors who first noted this disease in 1886:

    At this time there is still no known cure for CMT, which is also known as, Hereditary Motor and Sensory Neuropathy (HMSN) or, Peroneal Muscular Atrophy: >(terms used by our medical professionals) :

    It is the most common genetic defect, with a total of 30,000 (circa) registered sufferers in the UK, out of a population of 62 million people: Therefore many medical professionals may never see one single case of Cmt in the whole of their career:

    It is an INHERITED>(parent-to-offspring) disease of your neurological PERIPHERAL NERVOUS SYSTEM>(nerves sited just below to your skins surface), and is OUTWITH your bodies Central Nevous system, which is contained, and located within your brain, and spinal canal:

    It has no predilection for a particular race or sex: This neurological disease causes deterioration of your peripheral nerves, which are insulted with MYELIN a "wax-like" substance controlling/insulating the sensory, and motor nerves information, and muscle functions, in your hands, forearms, lower limbs legs, and feet:

    It also lead’s to foot problems such as high arches >(pes-cavus), and also "foot-drop", weakness, and fatigue, also many major problems with balance, and hand function, plus the loss of your 'fine-figure-dexterity', including the loss of your normal reflexes:

    Balance issues are also an ongoing problem:

    This is a demyelinating neurological disease of your "peripheral nervous system in which your 'MYELIN', a "wax-like" sheathing of insulation which wraps around, and insulate's your Motor, and Sensory nerves is DAMAGED & LEAKs:

    This in turn impairs/reduces the conduction velocity>(wave/speed) of signals in these affected nerves, which results in the brain not receiving information quickly enough, thus causing impairment in sensation, movement, cognition, or other functions depending on which nerves are involved:

    Your brain transmits electrical impulses "To and From" your muscles, via your 'MOTOR' >(command pathways/instructions to your muscles) axon/nerves to your receiving muscles:

    Your SENSORY nerves>(information-feelings-back to brain), as already stated, are both wrapped around in a "wax-like" myelin sheathing which provides the insulation to your nerves:

    Your peripheral nerves are likened to electrical cables, with the axon >( at centre) wrapped in a substance called MYELIN. If your myelin is defective/damaged and “leaks”, then the nerves impulses/signals will then be conducted, and sent at a much SLOWER velocity>(speed) than is normal:

    In CMT, the myelin sheathing is DEFECTIVE, and “leaks” therefore the velocity>(speed), or strength of the electrical impulses’s, or signals "to and from" your brain is significantly reduced at the receiving muscle(s) group:

    >>>Normal velocity / signal strength is 60/70 ft per second:

    >>>Reduced velocity / signal strength is 30/35 ft per second:

    >>>Therefore over a very long period of time (lifespan) your affected muscles, that do not receive a stong enough signal/wave/impulse will over a long period of time 'waste-away', >(Atophy) due to the lack of a strong electrical toning wave stimulation, from the motor (command) nerves, and the sensory >(information) nerves, that then weakly convey your signals/sensations back to your brain:

    >>>Cmt is a slowly, and progressively worsening neurological disease, causing gradual deterioration of the motor, and sensory nerves insulation. There is no known cure: It can also cause physical muscular pain and fatigue, and occasionally lead to a more severe physical disability:

    It is NOT life threatening, and does not affect your life expectancy:

    >>>The Dynamic Balance of the body, and in particular, your standing posture is affected. Your knees bend, and the “Quads” muscles takeover, due to very weak calf muscles, or a tight Achilles Tendon(s) !

    >>>The ability to walk independently for as long as possible is crucial. As this disease will cause foot drop, walking gait defects, high arches, and hammer toes:

    >>>Walking certainly helps defer some of your postural and health problems associated with a loss of mobility, and poor balance problems:

    However, severe muscle fatigue will limit you with any prolonged exercise:

    >>>Tremor is also associated with the loss of sensory nerves, and muscle wasting:

    >>>CMT is the most common inherited neurological medical condition in the UK, with approximately 23,000 UK citizens affected, and it is usually passed from parent to child:

    >>> YOUR G.P. SHOULD BE YOUR FIRST PORT OF CALL:

    ASK FOR A REFERRAL TO A CONSULTANT NEUROLOGIST WHO SHOULD TAKE BLOOD SAMPLES TO DIAGNOSE THE EXACT TYPE OF C.M.T. + SUB TYPE YOU HAVE:

    THEY ALSO SHOULD ALSO ARRANGE AN 'ELECTOMYOGRAM', WHICH IS A NERVE CONDUCTION VELOCITY (speed/velocity) TEST WHICH WILL SHOW THEM ANY LOSS OF SIGNAL STRENGTH TO YOUR AFFECTED GROUP OF MUSCLES:

    >>>CHRONIC: IS THE MEDICAL TERM FOR, LONG DURATION / OR FOR LIFE:

    >>>AXON: (nerve centre core) CONDUCTS YOUR PERIPHERAL MOTOR NERVE IMPULSES TO MUSCLES:

    >>>H.S.M.N.: HEREDITARY SENSORY MOTOR NEUROPATHY - A TERM USED BY YOUR HEALTH PROFESSIONALS:

    >>> HEREDITARY: INHERITED / MEANS PASSED "FROM A PARENT TO THEIR OFF-SPRING":

    >>>SENSORY: NERVES THAT SIGNAL TOUCH/FEELINGS/SENSATIONS, AND INFORMATION BACK TO YOUR BRAIN:

    >>> MOTOR: NERVES THAT SEND OUT A COMMAND SIGNAL FROM THE BRAIN BACK TO THE AFFECTED MUSCLES:

    >>>NEUROPATHY: ANY DISEASE THAT AFFECTS YOUR NERVES:

    > C.M.T.2 ABNORMALITIES IN AXON PERIPHERAL NERVE CELLS:

    > C.M.T.2 THEIR ARE 12 No. SUB-TYPES: A - L :

    > C.M.T.2 CAUSED BY DEFECTIVE GENE CHROMOSOME 17:

    Best of luck to you, and to your family - There is no cure only* !

    *YOU PERSONALY MUST ADOPT A MOST POSITIVE & PRO-ACTIVE MANAGEMENT STYLE WHICH WILL BE NEEDED, AS YOU WILL REQUIRE TO RESPOND, AND ADJUST/ ADAPT/COPE ACCORDINGLY WITH EACH STAGE OF THIS PROGESSIVELY, and MOST SLOWLY DEBILITATATING DISEASE ! !

    Best of luck + good health......

    John......

    Glasgow....

  • Well Vic, I think John has just given you all the information you need. It is hereditary and is a dominant gene so unfortunately, there is a 50/50 chance that it will be passed on to your children. My mum had it but was never diagnosed and I have only just recently been diagnosed at the age of 56. Thinking back, I now know that my symptoms started in my early 40's following the birth of my daughter in my late 30's. I never had any symptoms before then and participated in sports at school, played badminton, squash and was a regular attender at a health club right up to the birth of my daughter. I have read where 50% of cases can be brought on during or following pregnancy.

    You and your daughter need to be referred to a neurologist so that you can have the blood test. Mary M Reilly, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; m.reilly@ucl.ac.uk, is the most prominent neurologist in this field. However, I live in West Yorkshire and my neurologist was very good and instantly had an idea what was wrong so don't worry if you are not in London.

    All the best, I hope all this information helps. Try to remain strong and positive.

  • Hello hope you don't mind me contacting you but I noticed you live in west yorks, so do I. Not sure what I expect really but I do feel quite alone in dealing and understanding Cmt my children are affected but they are adopted and I have no previous knowledge of the disease. It would be good to meet I would like to try and get some more idea of what my children may experience etc etc Regards Debbie

  • hello vic my problems started when i was 22ish would fallover on a tiny stone because i couldn`t feel it under my feet. finally diagnosed n 1991 had to finish work in 1994. cmt is hereditary my mam has it, i got it instead of my twin brother thankfully as it`s worse for men unfortunately, bad enough for women as well though, found out in feburary that my son who`s 26 has got it but only in his calves, we don`t k now exactly how this effects him and his future because no-one has been in touch to tell us yet. hope you get sorted and good luck.

  • First of all thank you all for your replies, they have been most helpful.

    My mother was always falling over but beyond that I don't remember her having any symptoms. I think my father may have had hammer toes, so its possible that they both could have had CMT! Didn't really stand much of a chance then did I!!

    I never thought much of the fact that I was born with hammer toes or extremely high arches and no Doctor has ever said anything to me about CMT - I am now 65!

    Two years ago I started to notice I was getting numbness in my left foot from the toes up to the ankle and I have always had a bit of a tremor in my hands. I have always been a bit like my mother who died a couple of years ago at 88, (my father died 10 years ago) and if there was any pot hole or wonky pavement I would find it and have a fall! I went to a neurologist who did nerve conduction tests and thats when I got this diagnosis. Nothing was said about going further with any gene tests and he was in London attached to Queens Square!

    My daughter was born with hammer toes and we had them operated on when she was 5 to release the tendon. Again nothing was said and Im glad we did that as her feet were then so much better than mine which is good for a girl! She now runs and does all sorts of sports but has started to have problems with her back. I sent her to somebody who made orthotics and that seems to have helped her a lot. The problem is that she is refusing to contemplate that she has this condition and is just poo pooing it off! If I go and get gene testing will that give a clear indication as to if she has the disease as I have read with a dominant gene that a father will pass to his daughter if I got it from my mother, if I got it from my father I may have given it to both my daughter and my son. My son has no physical characteristics of CMT. Obviously my daughter will want to know for the sake of her two children now.

    Im sorry for such a long post but so many thoughts! Mary Reilly sounds good, will she do the gene testing?

    Finally one last question, is restless leg syndrome something that you get with CMT as I seem to have developed that as well over the past couple of years and wondered if there was a connection. Thanks.

  • i get the restleaa leg syndrome and its not very nice. I also had a knee replacement 3 years ago which was not very successful and after it when I advised of pain I had doc told me that it was because of the cmt and the muscle weakness which is why I am still having problems - drrrr if they had told me this before no way would I have had it done for me it was one of the worst operations in my life

  • I would recommend that you go to our website, cmt.org.uk and check out the section called About CMT, everything you need to know on the hereditary bits and pieces is there, plus lots more.

    Karen

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