Guest guest Posted January 17, 2001 Report Share Posted January 17, 2001 Hi Becky, I should have been more specific. It is Spina Bifida Occulta. There is only a small defect at L4. All other spinal structures are normal. Other than the loss of sensation in both legs, I have always functioned near normal. However, at age eleven, I had surgery on both feet to straighten out my toes which stood nearly straight up. It was almost impossible to wear shoes without developing blisters. I also have the Cavus foot and stork legs that is typical of CMT. Although I was never exceptionally coordinated(unable to skate, ski,etc) due to weak ankles, I have lead a very active life. Of all things, I ended up working in the oilfields on a Service Rig. Trust me, if you can make it there, you can make it anywhere. Nonetheless, over the last ten years(I am now thirty nine), I have lost so much strength and control in my feet that they just flop around on the end of my legs, kind of like walking on stilts with feet hinged on to them. If it wasn't for this ulcer on my heel, I would most likely still be working but it has been getting much harder to keep up the pace, much more than you could account for due to age. You asked about my hands: within the last year, I have noticed a decrease in dexterity in my hands. In our house, repairing eyeglasses is an endless job(kids). This was where I first noticed a difference; I used to be able to do this just fine but it keeps getting harder to get the screw started, get the screwdriver in the slot of the screw, etc. I can also tell when I try to weld; this requires a high degree of hand coordination and I find that I cannot perform as I used to. Eating soup is another task that indicates a problem. The slight tremor in my hands that is unnoticeable otherwise is magnified through the spoon. My neurologist claims that this could be explained by a problem higher in the spine. He might be right but he has not satisfactorily explained, to me, why he would rule out CMT with so many indicators being present. It isn't that I have my heart set on having CMT but I do want to know what the problem is, good or bad. At present, CMT seems more likely than anything else. I am not sure whether to trust him and his knowledge of CMT or my gut instinct. I don't know enough about the test results to refute his opinion but his logic just doesn't hold water with me. If I could get his opinion confirmed by a neurologist who was well versed in CMT in all its forms, I would feel better about it, Any suggestions? Joe Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 17, 2001 Report Share Posted January 17, 2001 In a message dated 1/17/2001 11:00:30 AM Eastern Standard Time, Jlang9539@... writes: << If I could get his opinion confirmed by a neurologist who was well versed in CMT in all its forms, I would feel better about it, Any suggestions? Joe >> Joe Go to the CMTA website and fill out a request for a list of doctor's in your area that are familiar with CMT. If you have problems, just ask and one or all of us will help. There are doctors out there that don't know much about CMT, but there are also some good ones. CMTA will send this out to you pretty quickly. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 17, 2001 Report Share Posted January 17, 2001 -----Original Message----- From: Jlang9539@... <Jlang9539@...> egroups <egroups> Date: Wednesday, January 17, 2001 6:39 AM Subject: [] Re: Doctors! Hi Joe, I'll be right over with that straight jacket! LOL, just kidding. CMT types 2 have normal to near normal readings. Were the F-waves prolonged? They are in all types of CMT. Now Spina Bifida, my son was born with that. He is missing L,-4, L-5. L-3 is underdeveloped, S-1 is underveloped, if you have only a small deformity of a vertabra its called Spina Bifida Occulta. My son has Spina Bifida. At L-4 your legs and possibly bladder/bowels might be affected, but in my opinion, it would take more of the lumbar vertabras to be missing for that to happen. They said my son would never walk, (10 months old) he did, then they said well he will need braces, (13 months) he didn't. Then they said he would never attain bladder/bowel control, (two years old) he did! Anyway, I would see another neurologist, a compression is when two vertabras are laying on each other. If you still have part of L-4 then you should also have the disc's, one above L-4 and one below L-4 to protect it. Do you have any problems with your arms and/or hands? If so, that leaves out the L-4 theory being the root of the problems. I'm not a Dr. this is just my thoughts on it, ~>Becky M. >Hi Everyone, Joe here, > If I don't start getting some straight answers from doctors, I am going >to need a psychiatric consult soon. > As some may remember, I said that I was recently " diagnosed " with CMT. My >first suggestion about CMT came from a technician in the orthotics lab where >I had been sent to be fitted for an AFO. He had seen many CMT patients and he >simply assumed that I had it and also assumed that I knew it too. This lead >to my making an appointment with a neurologist who had no problem accepting >my suggestion that I might have CMT(The technician asked that he not be >involved in this after he found that I didn't know). All of the physical >characteristics of my legs and the progression of loss of function are very >compatible with CMT. However, he ordered a nerve conduction velocity test >that revealed conduction velocities, in the legs, in the low 40's and high >30's. The lowest velocities were in peroneal nerves. This compares with >velocities in the mid 50's to mid 60's range for my arms. According to the >neurologist, this conclusively rules out CMT. On the basis of this, he flatly >refuses to consider CMT. He says that any further testing along this line >would be futile. He wants to do an MRI of my spine to look for some type of >spinal cord compression related neuropathy. I suspect that he is somewhat >drawn to this conclusion because previous doctors have diagnosed me with a >mild case of Spina Bifida due to a minor defect in the spine at the L4 >vertabrae (this has never bothered me in any way before). I am confused; it >would seem to me that a congenital birth defect would present a certain set >of symptoms that would remain unchanged. Also, a compression related >neuropathy would tend to affect all nerves below the point of compression >equally not target some to a greater degree than others. Right now, I am >suspecting that my neurologist does not understand that CMT presents >differently according to the type and the stage of progression. He seems to >feel that unless you have conduction velocities in the 20's, you don't have >CMT. > I am very curious to hear what people in the group would say about this. >I realize that he is a doctor but I have also heard many stories about >doctors lacking knowledge about CMT. If anyone has suggestions, I would like >to hear them. If not, does anyone have a straight jacket in an extra large? > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 17, 2001 Report Share Posted January 17, 2001 Joe, Lamar here, Type-2 CMT may show only slight slowing of the NCV. In any CMT the NCV can be higher in one area than in another in either Type 2 or Type 1. (Mine are as were late mother's) At the same time, spinal compression or a herniation at the L-4 area can only show in the legs. I have had 2 laminectomies at L-5/S-1, and one for L-4/5. In the L-4 area you could well have symptoms below the injury in only the legs. Urinary, bowel, and genital problems may or may not be present. This could progress, as the herniation (or birth defect) could become worse in time. It would be very unusual if severe radicular pain is not present in the extremities (one or both), but could happen. Remember the spinal nerve that leaves the spine in this area goes to the peroneal area and legs. The MRI would be a good suggestion in my opinion. He may or may not then want a myleogram where a dye is injected into the spinal space for X-Rays. A second opinion would also possibly be wise. I say this because a NCV on the legs will usually show as normal in a person with a spinal injury for a LONG period and often for life. Many paraplegics and quads have normal NCVs in the extremity for years but are paralyzed. The nerve in the leg remains normal following an injury and the blockage is above the area. (Visualize an extension cord. The cord can be fine but not be plugged into an outlet and no electricity will flow, or the cord could have a problem.--CMT would be the problem with the extension cord, and a spinal problem would be a problem with the plug) If you have mentioned the symptoms you show, I do not remember them, but from personal experience, I would recommend a second opinion. IF you have availability of a large teaching hospital, they frequently are the best resources. In my family, it took 15 years and numerous doctors before my mom was diagnosed with CMT at the University of FL. (I admit that it was in the 60's when she was diagnosed and a lot less was known about CMT--but even today many physicians can miss something. You also did not mention any family history, which would lead to helping confirm CMT (but spontaneous mutations do happen) Please keep us posted. The NCV's you show are similar to those in many of my family. My legs show a higher NCV than you gave, but are slower than in my arms. I would very much like to know what turns up. ----- Original Message ----- From: Jlang9539@... egroups Sent: Wednesday, January 17, 2001 07:40 AM Subject: [] Re: Doctors! Hi Everyone, Joe here, If I don't start getting some straight answers from doctors, I am going to need a psychiatric consult soon. As some may remember, I said that I was recently " diagnosed " with CMT. My first suggestion about CMT came from a technician in the orthotics lab where I had been sent to be fitted for an AFO. He had seen many CMT patients and he simply assumed that I had it and also assumed that I knew it too. This lead to my making an appointment with a neurologist who had no problem accepting my suggestion that I might have CMT(The technician asked that he not be involved in this after he found that I didn't know). All of the physical characteristics of my legs and the progression of loss of function are very compatible with CMT. However, he ordered a nerve conduction velocity test that revealed conduction velocities, in the legs, in the low 40's and high 30's. The lowest velocities were in peroneal nerves. This compares with velocities in the mid 50's to mid 60's range for my arms. According to the neurologist, this conclusively rules out CMT. On the basis of this, he flatly refuses to consider CMT. He says that any further testing along this line would be futile. He wants to do an MRI of my spine to look for some type of spinal cord compression related neuropathy. I suspect that he is somewhat drawn to this conclusion because previous doctors have diagnosed me with a mild case of Spina Bifida due to a minor defect in the spine at the L4 vertabrae (this has never bothered me in any way before). I am confused; it would seem to me that a congenital birth defect would present a certain set of symptoms that would remain unchanged. Also, a compression related neuropathy would tend to affect all nerves below the point of compression equally not target some to a greater degree than others. Right now, I am suspecting that my neurologist does not understand that CMT presents differently according to the type and the stage of progression. He seems to feel that unless you have conduction velocities in the 20's, you don't have CMT. I am very curious to hear what people in the group would say about this. I realize that he is a doctor but I have also heard many stories about doctors lacking knowledge about CMT. If anyone has suggestions, I would like to hear them. If not, does anyone have a straight jacket in an extra large? eGroups Sponsor Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 17, 2001 Report Share Posted January 17, 2001 Joe, Lamar here, You have described the pattern I have followed, with a couple of exceptions. My toes curled, and my leg size is still the same--and I do not have Spina Bivida, nor did my mother, grandmother, and many other family members. ----- Original Message ----- From: Jlang9539@... egroups Sent: Wednesday, January 17, 2001 10:46 AM Subject: Re: [] Re: Doctors! Hi Becky, I should have been more specific. It is Spina Bifida Occulta. There is only a small defect at L4. All other spinal structures are normal. Other than the loss of sensation in both legs, I have always functioned near normal. However, at age eleven, I had surgery on both feet to straighten out my toes which stood nearly straight up. It was almost impossible to wear shoes without developing blisters. I also have the Cavus foot and stork legs that is typical of CMT. Although I was never exceptionally coordinated(unable to skate, ski,etc) due to weak ankles, I have lead a very active life. Of all things, I ended up working in the oilfields on a Service Rig. Trust me, if you can make it there, you can make it anywhere. Nonetheless, over the last ten years(I am now thirty nine), I have lost so much strength and control in my feet that they just flop around on the end of my legs, kind of like walking on stilts with feet hinged on to them. If it wasn't for this ulcer on my heel, I would most likely still be working but it has been getting much harder to keep up the pace, much more than you could account for due to age. You asked about my hands: within the last year, I have noticed a decrease in dexterity in my hands. In our house, repairing eyeglasses is an endless job(kids). This was where I first noticed a difference; I used to be able to do this just fine but it keeps getting harder to get the screw started, get the screwdriver in the slot of the screw, etc. I can also tell when I try to weld; this requires a high degree of hand coordination and I find that I cannot perform as I used to. Eating soup is another task that indicates a problem. The slight tremor in my hands that is unnoticeable otherwise is magnified through the spoon. My neurologist claims that this could be explained by a problem higher in the spine. He might be right but he has not satisfactorily explained, to me, why he would rule out CMT with so many indicators being present. It isn't that I have my heart set on having CMT but I do want to know what the problem is, good or bad. At present, CMT seems more likely than anything else. I am not sure whether to trust him and his knowledge of CMT or my gut instinct. I don't know enough about the test results to refute his opinion but his logic just doesn't hold water with me. If I could get his opinion confirmed by a neurologist who was well versed in CMT in all its forms, I would feel better about it, Any suggestions? Joe eGroups Sponsor Quote Link to comment Share on other sites More sharing options...
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