Reflex

[Memabe]

My mom had CMT and I have had major health issues alot with my nerves. In both feet and hands I have bi lateral neuropothy in my feet and hands and they have no idea where it's conning from I also have the very high arches and major feet pain and toes curling. I have balance issues and I am hyper sensitive to touch body is always in pain. I have seen doctors even a MUSCULAR DYSTROPHY doc and was told he felt I might have it but I have reflexes is this true is that the determining factor

[DawnD]

HI Memabe. No, I don't think it is true that having reflexes excludes you from having CMT - as far as I understand it, most people with CMT have limited or no reflexes. The only definitive way of finding out if you have CMT is a genetic blood test - ask your doctor to arrange that, which they should have offered anyway as your Mum had it, which means there is a 50/50 chance of you having it. They may also do a nerve conduction test, which will strongly support a diagnosis - when I had mine done, I asked the doctor conducting it if the fact that my electrical impulses were about half what they should be confirmed that I had CMT, and he said no, only the blood test does that.

[Memabe in reply to DawnD]

Thank you for the response I have had multiple emgs done which all show neuropothy in both arms and legs but no one has ever did the blood work is there a specific gene they are looking for I have done the 23 and me and have access to my genetic makeup

[DawnD in reply to Memabe]

Hi - I think it is the PMP22 gene, but I'm not positive on that.

[Amanita in reply to DawnD]

PMP22 is the gene responsible for Type 1A., Dawn. I would guess it is the one the genetic blood test laboratories look for first.

[cmt_exercise in reply to DawnD]

That's just not true. A nerve velocity test will show if you have CMT.

[DawnD in reply to cmt_exercise]

Well, it is what I was told by the doctor conducting the test at Addenbrooke's Hospital in Cambridge.

[cmt_exercise in reply to DawnD]

Doctor's aren't infallible. In fact, I'm discovering that a lot are clearly incompetent:

cmtausa.org/understanding-c...

[Amanita]

Hi, Memabe,

Dawn is right about a blood test being the only way to pin down whether you have CMT. Unfortunately though, there are now thought to be about 70 (or is it 80?) different genes which can be responsible for 70 or 80 different types of CMT - most of them very rare. I suspect but don 't know for sure that with a blood test (which is very expensive) they only look for the commonest of the CMT-causing genes, so if you have a very rare type it may not be discovered. However if your mother had CMT and you have similar symptoms it does sound as though that's what is likely to be causing your problems. Was your mother formally diagnosed by a neurologist ? Do you know which type of CMT she had?

I have never had an EMG test but did have nerve conduction studies done. This test doesn't determine whether you have CMT but does point to what kind and degree of nerve damage you have. They test the nerve signals in your forearms and lower legs for speed and strength. With CMT type 1A (the commonest) the speed is reduced and with type 2 (I think) the strength of the signals is reduced. Some people find this test quite uncomfortable . I didn't feel a thing, but most of my results were unmeasurable.

I have no idea if having reflexes that work rules out CMT. Maybe it depends on the type of CMT. Apparently everyone is a bit different, although there is a number of typical symptoms experienced to some degree by most of us, even people in the same family with the same type of CMT can have different symptoms with different degrees of severity.

In the end, unless you are planning a family, (and until there is a cure for some types) it is really more important to get the right help with e.g. pain relief, exercises, ankle supports, walking aids etc. as needed. Your neurologist should organise this for you, or at least point you in the right direction. Might work differently in the US, though. I hope you will manage to get some help.

[Memabe in reply to Amanita]

My mom was formally diagnosed by a neurologist and the MD Clinic I have two boys one has FSH from his dad's side and the other may or may not have the FSH I have Parkinson's, Dystonia, Narcalepsy with Cataplexy and Rynouds, Asthma but I am so sensitive to touch it is so painful and the all the just said it was Fibro but I don't have depression or anything I guess it doesn't mater at this point with everything else if I find out just don't know to push the issue I have so much the docs just relate my symptoms to those even though none of those cause those particular symptoms

[Memabe in reply to Memabe]

Here are my gene test

RS 1760 T:T Gene CLC

RS28928910C:C Gene NEFL

CMT AXONAL TYPE 2E

RS119483085 ( I5008730G:G)

GENE - NDRGI

RS28940291 GENE MFN2

CMT AXONAL 2A2

RS28937906C:C GENE- GDAP1 CMT RECECIVE INTERMEDIATE A--------

COMIN IN COMPLETE GEONOMIC RS28940296 G:G GENE MPN2. ANOXAL TYPE 2A2

SO THIS IS THE INFO I GOT OFF OF PROMETHEUS DNA

[cmt_exercise in reply to Amanita]

No, a nerve velocity test will be able to tell you if you have type 1 or 2 CMT.

[Patricia-Anne]

Hello Memabe

I am diagnosed with CMT1b both via genetic blood test and nerve studies. My reflexes are still intact apart from my triceps reflex.

[cmt_exercise]

Just get a nerve conductivity test, and depending on that result, get a genetic test. It seems archaic, and very risky, to just look at basic physical symptoms to try to determine if you have a genetic disorder.

[Amanita]

Hi. Memabe,

Looks as though you have already been found to have CMT type 2E, then, in addition to all your other health issues, which sound a huge amount to deal with. I hope you are getting plenty of support from your spouse, family and friends.

Maybe Type 2E doesn't affect your reflexes, as 1B hardly affects Patricia-Anne's. I have 1A (the commonest) and no reflexes whatsoever.

[Memabe]

Thank you all for your information I will go back to my doc now and see what they say and let you know

[Flbeachwine]

Get yourself to a good neuroligst who specializes in CMT. My 1st neurologist thought it was a lung condition. Anway lucky enough to be sent by primary care doctor at state university neurologist. After talking & walking for her she said immediately I had CMT. I had nerve conduction test & EMG that day. My confirmation was done by saliva test sent to a genetics firm. My feet are always cold, numb, hammertoes & very painful. It has affected my phrenic nerve going to my diaphragm & I now sleep with a ventilator. Sadly my hands are becoming effected too. CMT added to my rheumatoid arthritis is a pain! But my neurologist sent me for physical therapy & custom made AFOs. I'm coping better just knowing what is wrong. Hang in there & good luck to you on trying to lead a good life. I won't say get well since there is no cure but learning coping skills, having family support, a good doctor & a positive attitude. I admit I have days I am depressed I just work to not let them be every day.

[Memabe]

Yes I plan on doing this as soon as my husband gets out of the hospital we have been here for two months I barely bumped my leg the other day and it was as if someone had took a knife and stabbed me it was unbelievable so yes even though I have all this other stuff no one's been able to find out why I am so sensitive to touch and the feet pain and drop foot ECT so it would be nice to figure that out

[LoolooLacey2]

Hi, I am waiting on referral and tests (I am 66 years old). I am just like you I am sore to touch all over. I have had many falls due to foot drop and if I do fall it is excrutiating if anyone tries to help me up, I have to crawl to a bit of furniture to get up. I also have Raynauds & Sjogrens Sydromes. I was diagnosed with a metabolic myopathy (VLCAD) in 2001 which is a genetic disease from both parents, this also gives severe muscle pain, toxic symptoms on exercise etc etc (a long story), it is so rare I am only one of 2 people and the oldest person in Scotland to have this. Long story short I have ALL the classic symptoms of CMT - champagne glass deformity of both ankles (stork legs - pretty pronounced), inverted heels, hammer toes (my toes are tiny but point down to the ground all the time), pain in feet, toes ankes and bottom of legs with cramping on the outside of lower legs & foot drop both sides. I have many many trips and falls, but luckily still here to tell the tale. Now my hands and forearms are affected with reduced grip. I am very very clumsy and have to be aware of my surroundings and walking surfaces at all times. I am pretty sure it is NOT Fibromyalgia you have from your posts. I have a new Consultant (Adult Metabolic Diseases for my VLCAD) so I see her this week, she has a Neurology Doc with her and I have asked for referral and tests for CMT. I do not come on here often but will if I get a firm diagnosis. I get DLA and have done for 18 years since diagnosis of the VLCAD, but now I am fighting the PIP people, who have decided in their wisdom to take away my mobility section of awards - pathetic, my disease is getting worse not better. I am appealing so will let peeps know the outcome of that. Keep going and do not let your physical illnesses get you down, I know it is very hard and I have down days, but I fight like hell to be as normal as I can be. All the best to you and your family.