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Charcot Marie-Tooth (CMT)

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  • #16
    Susie Bee,
    I found out some information about the recessive CMT. You CAN have a mild form of the disease with only ONE allele IF you have an abnormal EMG. So if you are having symptoms, you would need to see a neurologist and him/her do an EMG.

    My EMG was normal, of course. But my symptoms are not mild, either.

    UPDATE: I saw the neurologist yesterday. He's completely baffled and sending me on to Madison for more extensive genetic testing. Meanwhile, my good friend that happens to be a Ph.D. geneticist is coming to have lunch with me and go over some new information she has found and shoot some ideas around. I asked my neurologist if he wanted her info and ideas and he gave an overwhelmingly positive response! Since my friend teaches AND does research, she HAS to keep up on all the latest in genetic research. She is a highly intelligent and wonderful person, especially to take time out to come to my town and help me. She was my mentor when I did my undergraduate research, but that was 11 years ago! Many have come and gone and we have seemed to remain in touch. She's a very special lady!

    Meanwhile, enough about my friend. My neurologist and my geneticist are going to see if I qualify for the rare genetic disorders study being done by the NIH. At first they were against the idea. Now THEY are the ones bringing it up. If we can't figure this out for me, then maybe for my kids and grandkids (a nurse told me that). They know now that it's a race against the clock. They see it clearly as new symptoms crop up faster than I can report them.
    Be happy!
    We don't know what tomorrow brings,
    but we are alive today!

    Comment


    • #17
      Has anyone heard from Rohrer lately? I am concerned. As far as my CMT, I have definitely been confirmed with it through my mother's genetic testing, my bloodwork, and EMGs, etc., with my new neurologist (who immediately changed from my migraines to that...) He pointed out several places where I have neuropathies (wasting of muscle mass) so no, I don't have dainty feet and hands, I have lack of muscle there. Hubby and I always thought the former. Tee hee. Anyone remember threads I started or places I posted about horrendous muscle cramps? Those are part and parcel of CMT. I would get them in every leg and foot muscle, all up and down, at the same time and think I would die. I have been taking 3 valium a day to prevent them, although I still get them in my feet almost every night. I have extremely high arches and hammer toes. Also I have some degree of drop-foot. I also have optic nerve problems, and a rare eye condition called epithelial basement membrane corneal dystrophy that seems to be tied in also. Just a number of things. When I went back to a follow up visit with my new neurologist, he hadn't finished going over things but thinks I have CMT 2 of some type. It probably doesn't matter if I pay $3000 for the DNA testing as it won't really do anything. BTW-- CMT doesn't normally shorten your lifespan. And my brother and sister have have the high arches and hammer toes and some degree of scoliosis and other problems. Just not as severe.

      It is also called hereditary motor sensory peripheral neuropathy. What sets it apart from something like muscular dystrophy (although it is included as a subset of that) is that it is nerve generated -- the nerve is faulty and doesn't send the signal to the muscle, so the muscle begins to atrophy. From the EMGs (arms,hands,legs,feet,neck, part of back) we found that with me, it was the axon that is not functioning correctly. Picture an electrical wire... the wire itself is the axon, and the outside protective coating is the myelin sheath. With 2/3s of the CMT cases, it's the outside part that is dysfunctional. That is what they did the DNA testing for with my mother, so that is why it was negative. They didn't test for the axon.

      My main concern, of course, is what I may have passed on to my children and grandchildren. 50% chance for my children. There is nothing that can change that so there is nothing to do anyway. People can have mild degrees of CMT and some can have strong ones. I have done fine for the most part, but have some problems that are worsening. Had to have really high arch supports as an adolescent... my horrendous eyesight is probably due to that (distinguish 2 fingers at 48" ever since high school), correctable with glasses, but I just had cataract surgery so now I can see! Deafness in one ear possibly due to that (nerve deterioration), etc. I always played sports and never had too much problem except didn't like climbing rocks or things like that where your feet had to work hard. Anyway, that is my CMT update. When I find out more info I may post it later.

      Again, I am concerned about Rohrer. I PMd her awhile ago.

      PS- I can't check with other family about this as my mother was an only child and her mother was an only child... I did check with her father's family and there is nothing there.
      Last edited by Susie*Bee; 11-17-2014, 08:10 AM.
      71 and plugging along... but having some problems
      2007 52° w/ severe lumbar stenosis & L2L3 lateral listhesis (side shift)
      5/4/07 posterior fusion T2-L4 w/ laminectomies and osteotomies @L2L3, L3L4
      Dr. Kim Hammerberg, Rush Univ. Medical Center in Chicago

      Corrected to 15°
      CMT (type 2) DX in 2014, progressing
      10/2018 x-rays - spondylolisthesis at L4/L5 - Dr. DeWald is monitoring

      Click to view my pics: pics of scoli x-rays digital x-rays, and pics of me

      Comment


      • #18
        Here are what parts of my EMG report said if anyone is interested:

        -Right and left peroneal and tibial motor nerve compound muscle action potentials were severely reduced. Conduction velocities were mildly slowed. Distal latencies were normal as were F-latencies except for the left peroneal F-latency which was absent.
        -Needle exam studies of selected muscles of the left arm and leg, including cervical and lumbosacral paraspinal muscles, revealed slight increased duration of motor units and decreased interference pattern in the leg diffusely distally.

        Diagnostic interpretation: this is an abnormal study revealing the presence of a chronic axonal sensory motor neuropathy involving the legs.

        I am still really concerned about Rohrer as she has not posted for about 2 months and I PMd her at least a month ago. Has anyone heard from her?
        71 and plugging along... but having some problems
        2007 52° w/ severe lumbar stenosis & L2L3 lateral listhesis (side shift)
        5/4/07 posterior fusion T2-L4 w/ laminectomies and osteotomies @L2L3, L3L4
        Dr. Kim Hammerberg, Rush Univ. Medical Center in Chicago

        Corrected to 15°
        CMT (type 2) DX in 2014, progressing
        10/2018 x-rays - spondylolisthesis at L4/L5 - Dr. DeWald is monitoring

        Click to view my pics: pics of scoli x-rays digital x-rays, and pics of me

        Comment


        • #19
          Susie Bee, you should start your own CMT thread....

          Rohrer was going to give me her e-mail address back in Sept but never did.....since I’m not especially fond of the PM system here...If I look, I always respond with “please e-mail me at titaniumed@hotmail.com

          Some forms of communication are complicated....

          She might have computer problems.....

          Deep breaths....

          Ed
          49 yr old male, now 63, the new 64...
          Pre surgery curves T70,L70
          ALIF/PSA T2-Pelvis 01/29/08, 01/31/08 7" pelvic anchors BMP
          Dr Brett Menmuir St Marys Hospital Reno,Nevada

          Bending and twisting pics after full fusion
          http://www.scoliosis.org/forum/showt...on.&highlight=

          My x-rays
          http://www.scoliosis.org/forum/attac...2&d=1228779214

          http://www.scoliosis.org/forum/attac...3&d=1228779258

          Comment


          • #20
            I just sent an email to her and will report back if I hear anything.

            --Linda
            Never argue with an idiot. They always drag you down to their level, and then they beat you with experience. --Twain
            ---------------------------------------------------------------------------------------------------------------------------------------------------
            Surgery 2/10/93 A/P fusion T4-L3
            Surgery 1/20/11 A/P fusion L2-sacrum w/pelvic fixation

            Comment


            • #21
              Thanks for the suggestion but I didn't start a new one because Rohrer set this up (see bold) for others to use also in the initial post. I just put part of that post here so you can see.

              Yes, hopefully she will respond to Linda's email -- thank you so much Linda. Ed-- you may get a bunch of emails now. Tee hee. You're such a great guy. Thanks so much for your kindness, as always. You are hopefully correct about Rohrer and all is ok.

              Everyone else -- I hope I haven't bored you to death with information about my CMT. My apologies if so. It just means my nerves are shot. (ha ha...) Not really completely, just especially left leg.


              Originally posted by rohrer01 View Post
              Well, folks, that is my diagnosis after my DNA testing. I feel it belongs here because scoliosis is one symptom of this disease. So I will use this thread to talk about CMT even though this is a scoliosis forum. There are those of us that have special issues relating to a CMT diagnosis that may have a direct impact on our scoliosis from pain to severity to what kinds of exercises to do and NOT to do (walking is a big NO NO believe it or not) to whether or not to have it surgically corrected.

              I don't know what kind of CMT I have, yet. My appointment is next week. But if there are others out there suffering from the same thing, feel free to talk here.

              The incidence of this disease is 1 in 2,500 people. It sounds like a long shot, but this is actually the most common neuromuscular disease out there.


              I will post more as I know more. I will still keep my timeline thread (I have some imaging CDs) alive during this. That thread has proven invaluable to me. But this one may prove invaluable to other CMT sufferers.

              You all have a great day!
              Rohrer01
              Last edited by Susie*Bee; 11-16-2014, 07:59 PM.
              71 and plugging along... but having some problems
              2007 52° w/ severe lumbar stenosis & L2L3 lateral listhesis (side shift)
              5/4/07 posterior fusion T2-L4 w/ laminectomies and osteotomies @L2L3, L3L4
              Dr. Kim Hammerberg, Rush Univ. Medical Center in Chicago

              Corrected to 15°
              CMT (type 2) DX in 2014, progressing
              10/2018 x-rays - spondylolisthesis at L4/L5 - Dr. DeWald is monitoring

              Click to view my pics: pics of scoli x-rays digital x-rays, and pics of me

              Comment


              • #22
                i e mailed rohr as well...
                haven't heard back yet...

                last time i got private e mail from rohr was October 26th.
                towards the end of the e mail she added....

                ......Sorry I haven't been on the forum. There's just too much on my mind and I don' feel like I have anything to give right now....."


                jess....and Sparky
                Last edited by jrnyc; 11-16-2014, 09:13 PM.

                Comment


                • #23
                  heard from rohrer by e mail...
                  she asked me to tell people that she is doing OK, still has
                  some health issues....has been doing construction work
                  on her house, and also making it more easily accessible...
                  she is weaning off oxy meds and now on big doses of
                  gabapentin...she said the medication did not help her
                  before, but doctor put her on huge dose and it helps her
                  now...she had some intestinal issues that seem to be
                  resolving.
                  and she said to tell forum folks who might be concerned about
                  her that if she is not on forum, she is "just busy"

                  that is best i can sum up what she wrote to me...

                  best to all...
                  jess....and Sparky

                  Comment


                  • #24
                    Thanks so much!
                    71 and plugging along... but having some problems
                    2007 52° w/ severe lumbar stenosis & L2L3 lateral listhesis (side shift)
                    5/4/07 posterior fusion T2-L4 w/ laminectomies and osteotomies @L2L3, L3L4
                    Dr. Kim Hammerberg, Rush Univ. Medical Center in Chicago

                    Corrected to 15°
                    CMT (type 2) DX in 2014, progressing
                    10/2018 x-rays - spondylolisthesis at L4/L5 - Dr. DeWald is monitoring

                    Click to view my pics: pics of scoli x-rays digital x-rays, and pics of me

                    Comment


                    • #25
                      you are most welcome, Susie Bee...

                      hugs from cold and snowy northeast...
                      jess...and (sitting by heater) little Sparky

                      Comment


                      • #26
                        Thanks so much, Jess. I miss rohrer.

                        Hugs to the baby Boy. :-)
                        Sharon, mother of identical twin girls with scoliosis

                        No island of sanity.

                        Question: What do you call alternative medicine that works?
                        Answer: Medicine


                        "We are all African."

                        Comment


                        • #27
                          will drop an e mail to rohrer and let her know....

                          thanks...Sparky seems to be doing OK...
                          he can't wait for weather to dry up after 3 straight days
                          of no walks due to messy weather.

                          jess....and Sparky

                          Comment


                          • #28
                            hi all...
                            just got e mail from rohrer yesterday, Wed, January 14th...
                            she asked me to let forum folks know she will be back to
                            writing here when she can...
                            here is some of what she wrote to me..


                            Jess,
                            Thanks for updating folks on the forum for me. Actually, my health isn't doing all that great. I mean I'm as "healthy" as I was. But I'm just not the same since I took that fall several months ago. I really don't know how long I was unconscious for. I know how my husband is. He is very slow to go and check anything. Even at that, he didn't call the ambulance like he should have. Regardless, there's probably nothing that they could do to have prevented my memory problems and typing problems. They are gradually getting better, but I forgot how to spell simple words and my spell check would underline them for me and I'd end up having to look them up. But don't EVER underestimate closed head injuries. The consequences can last a LONG time even for something that seemed like a simple concussion.


                            My muscles gradually continue to deteriorate. I can barely last at the grocery store and only because I have a cart to hang on to. Even at that, I walk funny. People have turned out to be so kind. They smile more and hold the door in the inclement weather to their own misery. I wish everyone would smile more and do those little things for each other anyway! I can NOT shop at a large store. I have to ride the funny carts. My grandson LOVES it. He steers them for me. I'm so glad to get to see him and watch him again.


                            It's been nice hearing from you. Tell the friends on the forum I'll try to get back soon!

                            Comment


                            • #29
                              Oh dear, that's not such good news. I had wondered where Rohrer had got to. I hope the memory problems resolve quickly. As if she needed another health problem. She sounds in good spirits despite everything. <thumbs up>
                              Surgery March 3, 2009 at almost 58, now 63.
                              Dr. Askin, Brisbane, Australia
                              T4-Pelvis, Posterior only
                              Osteotomies and Laminectomies
                              Was 68 degrees, now 22 and pain free

                              Comment


                              • #30
                                No, it's not such good news as what we would have wanted, but it is still news, so we are thankful for that, Jess. You are right, Jennifer, about the good spirits. What a dear soul. Please let her she's in my thoughts and prayers.
                                71 and plugging along... but having some problems
                                2007 52° w/ severe lumbar stenosis & L2L3 lateral listhesis (side shift)
                                5/4/07 posterior fusion T2-L4 w/ laminectomies and osteotomies @L2L3, L3L4
                                Dr. Kim Hammerberg, Rush Univ. Medical Center in Chicago

                                Corrected to 15°
                                CMT (type 2) DX in 2014, progressing
                                10/2018 x-rays - spondylolisthesis at L4/L5 - Dr. DeWald is monitoring

                                Click to view my pics: pics of scoli x-rays digital x-rays, and pics of me

                                Comment

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