?Do I have CMT

[LoolooLacey2]

Hi, I have suffered all my life from muscle weakness, pain and severe fatigue. Finally, in 2002 I was diagnosed with a condition called VLCAD - Metabolic Myopathy (inherited from both parents). However, a nurse that was dealing with my leg ulcer commented on my "Champagne Glass Deformity" of both my ankles. At the time I thought nothing of it until I decide to look this up. The symptoms of CMT are identical to what I suffer from and is getting slowly worse as I age. I am 66 years of age. I really struggle with falls, trips and just have no grip strength, and find it difficult to pick things up at the first go. I always say it is my co-ordination. My Consultant at diagnosis of VLCAD (had 2 muscle biopsies the second one came back as positive for VLCAD) did say he hoped I did not have another condition running alongside my Metabolic Myopathy. I suffer from little lumps under my skin more so in my arms and now I do not know if this is muscle damage or damage to the nerves. I cannot be touched near my muscles even by myself as they are so sore. Now my toes feel numb or cold or just not there sometimes, weird feeling. Even getting dressed is a struggle and personal hygiene difficult. I could write a book, but will refrain at the moment. I have finally got a Consultant on board who specialises in Metabolic Myopathies so will ask her to refer me to the Neurologists. Any thoughts anyone.

[DawnD]

Hi. The easiest thing is to ask your GP, or the Consultant you are under at the hospital, to do a genetic blood test to check whether or not you have CMT. The blood test is the only definitive way of knowing, although from what you describe, it does sound like you might have it.

[cmt_exercise in reply to DawnD]

A nerve velocity test would also be able to prove the existence of CMT. It can be done quicker than a blood test, in that the results are instant, whereas a genetic test is somewhat slower, though maybe easier to source and will be less painful.

[DawnD in reply to cmt_exercise]

When I had my nerve velocity test done at Addenbrooke's Hospital, I asked the doctor doing it whether this would confirm that I had CMT and he told me no, it didn't, it just suggested that that was the correct diagnosis and he is the one who told me that the blood test is the only definitive way of confirming it.

[cmt_exercise in reply to DawnD]

Sometimes doctors are just stupid; it makes no sense to say the test can confirm that CMT is the correct diagnosis yet the test is not a definitive answer...that's a contradiction. What the test won't show is which type of CMT you have, for which you will need genetic testing for.

[LoolooLacey2 in reply to cmt_exercise]

Thank you for replying. My new Consultant will be doing a Genetic Test via another Dept as they have funding for this. Apparently, she cannot have it done under the NHS UK due to costs. I see her again in August, but will ask for referral to a Neurologist as she is the Adult Metabolic Specialist. Will keep you posted. X

[Amanita in reply to cmt_exercise]

Hi, mjbk,

It does actually make sense. The two tests actually give different information.

The nerve conductivity test determines (A) whether there is a neurological problem, (B) whether the axons ("electric wires") or the myelin sheaths ("insulation" of the "wires") are the primary cause of the problem, and (C) a measurement of the severity of the malfunction of the nerves. Faulty axons cause the "messages" between your brain and , say, fingertips to be weak; faulty myelin causes the "messages" to be slow. The results this test are immediate.

Genetic testing can pin down the individual gene responsible for the problem, but the results can take many months to come through - and it is expensive. Moreover, while a genetic test will identify the gene in most cases, new genes are still being discovered and most are rare, so I believe that not every genetic test will be guaranteed to result in a definitive answer.

[cmt_exercise in reply to Amanita]

The doctor is still contradicting himself:

"I asked the doctor doing it whether this would confirm that I had CMT and he told me no, it didn't, it just suggested that that was the correct diagnosis "

So the doctor is saying the test was positive for CMT, but a genetic test is still required to reconfirm what's already been confirmed...Nerve velocity testing has been used for decades to diagnose CMT - genetic testing categorically isn't required unless you need to understand which type of CMT it is.

[Amanita in reply to cmt_exercise]

Thanks, mjbk,

The nerve conductivity test does not by itself prove whether you have CMT. But if other factors strongly suggest that you may have CMT , it will show whether you have the type of nerve malfunction typical for people with CMT.

For example, people with Type 1A have a slower speed of nerve signals (from faulty myelin sheaths) and people with Type 2 will have reduced strength of nerve signals (from faulty axons) - though with the progression of the disease people with faulty myelin will eventually have damaged axons as well.

In my case (1A as revealed by the subsequent genetic test), the nerve signals barely registered at all and the results were mostly unmeasurable. The doctor's opinion was that it was probably primarily a myelin problem though the axons weren't up to much either - but I didn't feel anything while being tested, so at least it wasn't an unpleasant experience!

Perhaps we'll just have to agree to differ.

All the best , anyway.

[cmt_exercise in reply to Amanita]

I'm fully aware of how the test works, and your example demonstrates what I originally said, in that it can show if someone has CMT, but not which type:

cmtausa.org/understanding-c...

[beachwine in reply to DawnD]

In US instead of blood test to send to genetic lab it was done with saliva. It was found I have a rare type CMT & the university hospital is paying to test my sister. I have no children & she does so they are interested in entire family.

[Flbeachwine]

I don't know of the disease you mentioned but it sure sounds like CMT. Hope you get a good neurologist. The first one I went to never brought up CMT. My primary care doctor sent me to a neurologist at our state university. She knew immediately it was CMT but did nerve conduction tests & genetic testing to prove her diagnosis. Even though there is no cure it's better knowing what's wrong than lying in bed wondering what it is. Now I have been through physical therapy, have AFOs to help me walk and the right doctors by my side to help me. Now my husband understands how he can help. Stay strong.

[LoolooLacey2 in reply to Flbeachwine]

Hi, thank you for your kind words. I now have appointments being put in place - Neurology OP regarding the possible CMT, Human Genetics for a DNA Test, Dermatology for a Skin Biopsy and the Pain Clinic for help with my chronic. This is more than I could have hoped for and more than has been offered in over 12 years since I left my job as a Medical Secretary in 2006 because of pain and fatigue. I will have to wait a while to see all these Specialists, but at least it is a start. I felt quite abandoned all those years. I will keep you all posted as I go along. Some results may take a long time, but only to be expected. Thanks again. X