I think I may have CMT

[loomloo]

I think this post is an offload as I am coming to the conclusion that I may have this condition. Searching for running shoes for high arches led me to this condition being a possibility.

I have only mild symptoms such as very high arches, which i have had all my life, and recently numb toes in my right foot. I am not one to self diagnose normally, but my concern is heightened by the fact that my father died 20 yrs ago from Motor Neurone disease.

Now the questions running through my head are did he really have MND or was this a misdiagnosis due to at the time of his death there being no test to diagnose other than ruling out other conditions? Is it coincidence that I have these symptoms?

I hope I am just being silly, but after losing a parent when I was so young and him being only 41, I think most people would appreciate that this has instilled huge anxiety at the thought of developing a condition that was as traumatic and aggressive as he had. This is especially due to have fit and well he was previous to him developing symptoms, then 2 yrs later unable to walk, talk, feed himself and end up weighing just 6 stone

[Shazza65]

Hi, To allay any fears you have go to your GP and discuss it with them. Tell them your thoughts and ask for a referral to a neurologist. It is highly unlikely you will die from having CMT and there may be many reasons for high arches. Please don't use the internet to self diagnose you will cause yourself so much stress. I'm sorry to hear you lost your dad so young but it does not mean you have the same condition. See your GP.

[John1945]

Hello to loomloo ...... (Sorry this blog is so long) !

Charcot-Marie-Tooth disease, (Cmt) ie (the names of the 3 neurologist, professors who noted this disease in 1825 - 1940: It is also called Hereditary Motor and Sensory Neuropathy by our health professionals, as well as Peroneal Muscular Atrophy (muscle wasting):

It is usually an inherited neurologigical disease passed from a (parent to offsprings), due to mutations (changes) in their genes, that affect your Peripheral Nervous System, ie nerves that are (near to to your skins surfaces) :

This disease leads to damage, or destruction of the 'wax-like' substance called Myelin which wraps around (insulates) your Sensory nerves (touch-feelings-sensations) from your hands and feet back to your brain, which then using your Motor nerves (command-respond-action) send electrical wave signals, instructions back to your varying muscle groups:

In Cmt your Myelin (insulation) is defective, and LEAKS, causing your peripheral nerve's electrical 'wave-signals', to be very much reduced in strength, (velocity/speed):

Therefore, over a very long period of many years, due to the much reduced speed (velocity) of these electrical wave signals, which are going (back and forward) between your brain and your hands and feet (extremities), and the receiving muscle groups will result in muscular (mild/severe) atrophy (wasting), and may result in disability, displayed in many different forms ?

Examples are, Pes Cavus foot / mild/severe "foot-drop" / wasting of interossel (finger) muscles in both hands / tendon reflexes absent / plantar reflexes / sensations decreased / muscle tremor / loss of lower legs (calf) muscles / numbness (feet and toes) / "Foot-Slapping" walking gait / weak hips / legs / and feet / loss, or much reduced normal body reflexes / etc:

The correct way to establish a diagnosis, to confirm if you have Cmt is .....

a) Visit your General Practitioner, get them to check your body's normal reflex points, and refer you to: >>>

b) Consult a NHS Neurologist: This consultant will take your family history, order blood tests, send them to a laboratory who specilise in gene mutations (very expensive for NHS + 6/8 weeks for results):

The neurologist may also order you to have an Electromyogram, which will confirm your actual existing nerve(s) speeds/velocity, against the bodies, normal nerve speeds: This procedure also is sometimes called a Nerve Conduction Speeds Test (NCS), which is quite uncomfortable, however it will reveal your actual, and true nerve conduction speed(s):

In conclusion, at present there is no cure for Cmt: However if a physical disability is present you may be referred on, to see an Orthpaedic Surgeon who explain all the various options to you: They may decide to release / stretch a tendon / reposition foot muscles / or bone fusion (arthrodesis):

Alway remember that any type of physical surgery is always a "trade-off", you may gain something, and you may also lose something ?

Most importantly never forget, that even after any successful tendon / bones / tissue repositioning by orthopaedic surgery is performed, that your existing / remaining muscles will STILL CONTINUE to very 'ever-so-slowly', "waste-away", for your remaining lifespan !

However your own, POSITIVE MENTAL , AND PHYSICAL MANAGEMENT, IS MOST CRUCIAL, AS YOU PERSONALLY MUST ACCEPT/ ADAPT & ADJUST TO THIS PROGRESSIVELY, AND MOST SLOWLY, AND TOTALLY FRUSTRATING WORSENING NEUROLOGICAL DISEASE ! ! !

Good luck to you, and the best of health .....

John (Glasgow) .....

[Amanita]

Hi, Loomloo,

I thinkShazza65's advice is excellent.

I would only add that it is not typical of CMT for a person to deteriorate from being "fit and well" to being "unable to walk, talk , feed himself" etc in just two years. Drastic weight loss is not associated with CMT. The progression of the disease from apparent health to serious mobility problems is typically over many decades, starting in childhood/teens. A minority of people are worse affected and may already have considerable difficulty with walking from childhood, while some show no symptoms until middle age - even then deterioration is relatively slow. The voice is very rarely affected.

[loomloo]

Thank you all for your replies. It seems that we have a building history within our family of neurological disorders. My father's older sister also died a couple of yrs ago of MS, and my uncle had parkinsons. I suspect my paternal grandmother had undiagnosed CMT, and displayed classic signs.

I am struggling to find any empirical research that may investigate how these things connect, although it is plain as the nose on my face that when 3 members of your immediate family have illness all connected to the same gene. Surely this cannot be coincidence. I am a generally rational person. In fact I am a behavioural psychologist, so I critically analyse information as a rule, but I have a niggle that although I have no journals proving that there is a connection, there is something. That or we are bloody unlucky!!

[hbowman in reply to loomloo]

Not sure if u r still looking at this thread anymore, and I only signed up to use this in order to respond to u.

1. John1945 gave u a brilliant response; very thorough! No need to repeat any of it, as it's pretty much what I've heard or read for myself.

2. Hope u have alrdy met w/yr Primary Dr. Additionally, shd u or anyone else need to know, the country's leading expert, as I understand it, is Dr. Michael Shy, with Iowa University, where they study CMT. There's Stanford & Cedars Senai, out in CA, but, I'm going to the top for answers. Contact the Univ & Google/research him yourself.

3.) look up your city's local chptr of a CMTA, so you & your family can have the networking & support u need/deserve. Advice is key during this journey.

Not sure how keeping up with this thread works, so, incase I loose the thread, I wish everyone GOD's Peace & Blessings during yr individual journeys!!!

🙏🏻🌹🌹🌹💖🌹🌹🌹🙏🏻

[Amanita]

It sounds like a most unfortunate collection of bad luck, Loomloo.

MND and MS are diseases of the central nervous system (nerves in the brain and spinal cord), and Parkinson's involves nerve cells in the brain. As far as I can see they are not often obviously inherited. In CMT it is the peripheral nervous system (motor and sensory nerves outside the brain and spinal cord ) that is involved. CMT is very likely to be inherited, and each of the several types of CMT is associated with its own distinct faulty gene.