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Polygenic Inheritance of AIS

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  • #46
    environmental component

    Rohrer01

    I would be more inclined to believe that a scoliosis trigger may be a lack of enough folic acid during pregnancy. At least in my case, I also have spina bifida occulta. Spina bifida is connected to folic acid deficiency, and possibly heredity as well, as my son also has it. Both my mother and myself were very diligent about taking our folic acid during pregnancy. However, when I was undergoing fertility treatments and they found out about all of my back issues, they put me on mega doses of folic acid, 4mg/day. The usual amount in a non-prescription prenatal vitamin is 0.8mg/day and a prescription prenatal vitamin is 1.0mg/day. Maybe that is the environmental trigger?
    The trigger could be low folic acid, hormone irregularities or pretty much anything. I think as they learn more about AIS they'll break it up into multiple diseases with different triggers.

    On my son's first visit his doctor told me that Scoliosis was rooted in a central nervous system disorder. According to Dr. Alain Moreau that hypothesis is correct. (Melatonin Signaling Dysfunction in Adolescent Idiopathic Scoliosis)
    If you believe this and other studies the nervous system causes changes to the spine that ultimately lead to Scoliosis. None of this is fully understood.

    If he's right that leaves us with two main possibilities:
    A) This nervous system disorder spread to every corner of the globe via heredity
    B) Our kids have nervous system damage

    Personally I'm betting on B. I wouldn't be surprised to learn that our kids have a genetic susceptability. Many kids probably do. But Scoliosis hits 2% of the population and 2 out of 3 cases occur randomly so the genetic vulnerability may be reasonably common.

    By comparison Type 1 Diabetes strikes at random but it also hits some families very hard. Somebody correct me if I'm wrong but I believe if a parent has Type 1 his/her children have a roughly 1 in 3 chance to get Type 1. Then this comes out....

    Study Of Human Pancreases Links Virus To Cause Of Type 1 Diabetes

    A team of researchers from the Peninsula Medical School in the South West of England, the University of Brighton and the Department of Pathology at Glasgow Royal Infirmary, has found that a common family of viruses (enteroviruses) may play an important role in triggering the development of diabetes, particularly in children. These viruses usually cause symptoms similar to the common cold, or vomiting and diarrhoea. However, the team has now provided clear evidence that they are also found frequently in the pancreas of people who develop diabetes.
    Type 1 Diabetes sounds just like Polio and I'm guessing Scoliosis. Most kids who are exposed to "disease X" will be asymptomatic or get a cold. A few unlucky kids will suffer nervous system damage that after many months or years leads to Scoliosis.
    Last edited by Dingo; 05-05-2010, 10:07 AM.

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    • #47
      treatment for Scoliosis

      Rohrer01

      I hope you are focusing most of your research on treatment options for your child and finding out what works and what doesn't and WHY. I think that would be time best spent.
      Like most children with Scoliosis my son's doctor told us to watch and wait. No way.

      After easily a few thousand hours of reading I came across enough information that convinced me that muscle mass was probably protective against Scoliosis. We are doing general strength training which I believe helps.

      When my son turns 8 he'll be old enough to do Torso Rotation Strength Training which was found to be effective in 3 small studies. A 4th study conducted in Switzerland was just completed and is set to be published soon. I believe that other studies may be underway right now.

      Torso Rotation Strength Training for Scoliosis

      This thread has plenty of study links including a video. TRS was discovered by a spine surgeon in California. The first study was released just a few years ago. Nobody can make any real money on TRS which might explain why most people have never heard of it. This therapy takes just a few minutes, twice per week and according to Roger Schwab and the 3 studies it helps almost everyone.
      Last edited by Dingo; 05-05-2010, 06:46 PM.

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      • #48
        Originally posted by rohrer01 View Post
        I feel bad that Mamamax feels the need to jump in and defend you. But I'm really not trying to be insulting or mean.
        Don't feel bad rohrer01 - I do not see your posts as insulting or mean by comparison to some others ;-) And, I didn't feel the need to defend Dingo - he truly can hold his own. I was offering Dingo some web links - we sometimes swap information we come across, and I was remembering how another poster (Concerned Dad) once expressed his admiration for Dingo's research. Pity CD is not here now ... he would have enjoyed Dingo's most recent postings as well, and also offered thought provoking responses.

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        • #49
          MZ twins

          Dingo,
          Here's a little bit of the scoop on MZ twins. At conception any fertilized egg (zygote) is nothing but a stem cell as far as science is concerned (thus the huge uproar about stem cell research). At some point during that rapid period of cell division, the cellular "glue" comes loose and now you have two embryos floating around. Sometimes the glue comes undone right away, sometimes it comes undone later - and can even be incomplete resulting in conjoined twins. Have you ever noticed that identical twins are not "identical" in the sense of every feature, such as height? Some are mirror images of each other. If you know them well, you have no trouble telling them apart. During embryonic development, there are things going on that lead to cell differentiation; some cells become "liver cells", some become "bone", "nervous tissue", "heart", "lung", you get the picture. Once the embryos separate, they are on their own, so to speak. Even though the DNA sequence is the same, every signaling pathway is not. I explained X-inactivation in females. We only need one X chromosome so, in females one inactivates. It is a totally random process; 50/50. Boys don't have that, so would carry all the same traits that are on their X chromosome. Back to signaling pathways, that is a very important step in embryonic development. This is what they are studying so much. They can take a stem cell line (in essence all these cells are monozygotic and if allowed would all be like MZ twin, triplets, ets....) but they are able to tell some of them to do this and some to do that. Regardless of our DNA we all develop indivdually. This is why you will rarely, if EVER find 100% concordance when it comes to disease, or any other trait for that matter. If you look at a distance or even up close, they may be alike enough to fool our eyes. But look closer and closer and you can find a difference in almost any feature even if it is very minute. To sum it up, we are all indivuduals, even conjoined twins have different features.

          Now back to your virus hypothesis. In many of these studies you quote, like the type 1 diabetes study. They actually found the virus lurking in the pancreas of these deceased children. When you can find a study where a particular virus is found in a statistically significant portion of the bone or spinal fluid, or muscle tissue (basically a relevant place) in people with scoliosis, that is NOT found in the general population. Then I will believe you. But for now, that hasn't happened. I'm sure you are not the first person to think of a viral cause of this. I'm sure it hasn't been pursued because nothing has been found. Maybe you can get in touch with a credible research scientist from a nearby university and propose this to them. This would be a legitimate way to at least start or see if anyone is willing to look into your hypothesis.

          I would like to mention that this has gone so far off topic from what Linda Racine posted that I think it's fair to say she has been hijacked. We are being rude by doing that to her. I think that these topics should have their own thread.

          Kindly,
          Rohrer01
          Be happy!
          We don't know what tomorrow brings,
          but we are alive today!

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          • #50
            Dr. Ogilvie

            Rohrer01

            When you can find a study where a particular virus is found in a statistically significant portion of the bone or spinal fluid, or muscle tissue (basically a relevant place) in people with scoliosis, that is NOT found in the general population. Then I will believe you.
            When somebody discovers even one common, worldwide, deadly genetic disease in children that behaves like Scoliosis I'll believe Dr. Ogilvie.
            Last edited by Dingo; 05-05-2010, 08:41 PM.

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            • #51
              Originally posted by Dingo View Post
              When somebody discovers a single, common, widespread, deadly genetic disease in children I'll believe Dr. Ogilvie.
              Irrelevant.

              Scoliosis is not deadly in almost every case. Only about 1 in 1,000 ever reach surgical range and many/most of those still have kids before it affects them enough to affect them.

              So asking for a "deadly" genetic disease is of course irrelevant.

              Ask about a genetic disease of childhood wherein many people never know they have it and virtually everyone who has it has kids.

              That is the relevant question.

              Here's another relevant question... given the observed characteristics of scoliosis, why isn't the prevalence HIGHER than 2-4 % worldwide? Now that's a great research question in my opinion.
              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


              • #52
                Originally posted by Pooka1 View Post
                Irrelevant.


                Here's another relevant question... given the observed characteristics of scoliosis, why isn't the prevalence HIGHER than 2-4 % worldwide? Now that's a great research question in my opinion.
                It might be. How many cases go unreported? Do they include all the little old people that are all twisted and bent up in their percentages? I doubt it. How many people have never heard of scoliosis? How many people don't get diagnosed because they have no pain and never progress? We'll never know unless someone takes very LARGE ramdom samples of various populations worldwide and X-rays everyone. Then they need to repeat it several times over. Has that been done to anyone's knowledge? If not, how do they know that the incidence of scoliosis is only 2-4%?

                Now that is relevant. Good thought Pooka1
                Be happy!
                We don't know what tomorrow brings,
                but we are alive today!

                Comment


                • #53
                  Originally posted by Dingo View Post
                  Rohrer01



                  Like most children with Scoliosis my son's doctor told us to watch and wait. No way.

                  After easily a few thousand hours of reading I came across enough information that convinced me that muscle mass was probably protective against Scoliosis. We are doing general strength training which I believe helps.

                  When my son turns 8 he'll be old enough to do Torso Rotation Strength Training which was found to be effective in 3 small studies. A 4th study conducted in Switzerland was just completed and is set to be published soon. I believe that other studies may be underway right now.

                  Torso Rotation Strength Training for Scoliosis

                  This thread has plenty of study links including a video. TRS was discovered by a spine surgeon in California. The first study was released just a few years ago. Nobody can make any real money on TRS which might explain why most people have never heard of it. This therapy takes just a few minutes, twice per week and according to Roger Schwab and the 3 studies it helps almost everyone.
                  Now those are studies that I would be interested in.

                  My mother was told to watch and wait with me also. She didn't want to do that either. She did the best she could at the time, 25 years ago, and took me to a D.O. who did adjustments and electrostimulation of my back muscles. I got a 3* improvement that held for about 10 years before going south again. At least she TRIED to do something. Part of the reason I believe that it held was because I remained an active, physically fit person. I have pretty much always exercised in one form or another. I get bored, so one year might be hiking. The next ice skating. Then swimming, bike riding. Now I'm reduced to walking. But I'm still DOING. I know the SRS says that PT doesn't help except for comfort, but I'd rather be comfortable. Certain PT exercises I find boring and always discontinue. That may be why PT doesn't work. With that said, keeping your son motivated, especially through the teen years may be a challenge. I sincerely hope these thing work. He's awfully young do be diagnosed with scoliosis. It's usually diagnosed around puberty. Did you all see it? Does he have idiopathic scoliosis or congenital scoliosis?
                  Be happy!
                  We don't know what tomorrow brings,
                  but we are alive today!

                  Comment


                  • #54
                    Originally posted by rohrer01 View Post
                    Now those are studies that I would be interested in.

                    My mother was told to watch and wait with me also. She didn't want to do that either. She did the best she could at the time, 25 years ago, and took me to a D.O. who did adjustments and electrostimulation of my back muscles. I got a 3* improvement that held for about 10 years before going south again. At least she TRIED to do something. Part of the reason I believe that it held was because I remained an active, physically fit person. I have pretty much always exercised in one form or another. I get bored, so one year might be hiking. The next ice skating. Then swimming, bike riding. Now I'm reduced to walking. But I'm still DOING. I know the SRS says that PT doesn't help except for comfort, but I'd rather be comfortable. Certain PT exercises I find boring and always discontinue. That may be why PT doesn't work. With that said, keeping your son motivated, especially through the teen years may be a challenge. I sincerely hope these thing work. He's awfully young do be diagnosed with scoliosis. It's usually diagnosed around puberty. Did you all see it? Does he have idiopathic scoliosis or congenital scoliosis?
                    I believe Dingo's son started out with, and has maintained, an 8 degree curve. <no comment necessary>
                    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

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                    • #55
                      Originally posted by LindaRacine View Post
                      I believe Dingo's son started out with, and has maintained, an 8 degree curve. <no comment necessary>
                      If I recall correctly, he has been at 10* - 11* for at least a year. It certainly looks like he might not progress and may even resolve spontaneously. Everyone here certainly hopes so.

                      We know from the Greek study that a fair percentage of kids don't progress and even resolve completely absent any treatment whatsoever. So it will be impossible in practice to claim the PT did anything whatsoever.

                      The torso rotation exercises are discussed on other threads. The lead author of one of those studies was on the forum discussing it also. He did his doctorate in exercise physiology or muscle physiology or something, can't recall which and did his dissertation on torso rotation PT for scoliosis. You might want to read what he said about this subject. He moved on to a post doc doing something else.
                      Last edited by Pooka1; 05-06-2010, 06:53 AM.
                      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


                      • #56
                        In the article Linda posted

                        http://www.aafp.org/afp/2001/0701/p111.html

                        the authors state,

                        [...]the prevalence for curves greater than 40 degrees is approximately 0.1 percent.
                        So we have one person in 1,000 ever achieving a curve > than 40*. And many of those people have kids before it affects them or have surgery to hold the progression as we can see from teh testimonials here (and from common sense).

                        Again, it is amazing that the prevalence rate is only 2-4* and not much higher.

                        ETA: And when you factor in rohrer01's point about all the undiagnosed cases, the correct ratio for number of people ever reaching >40* might be much lower than even 1 in a 1,000. Maybe it's 1 in 10,000 or more. Thus it is easy to see why this genetic disease could reach a high prevalence in the worldwide population which it does.



                        Also from that article,

                        Pathophysiology

                        Many studies have attempted to uncover the pathophysiologic process underlying idiopathic scoliosis. Multiple abnormalities have been found, yet none has been conclusively linked to all cases.

                        Studies of twins12 have given the firmest indication that the most significant factor is genetic. Indeed, a recent meta-analysis13 showed that not only is the risk for scoliosis greater in monozygotic twins than in dizygotic twins, the rate of curve progression is nearly identical among twins subjected to a variety of environmental influences. Current theorists believe that scoliosis is a multigene dominant condition with variable phenotypic expression.5 Therefore, even though scoliosis is typically present in most members of the same family, its severity can vary widely from parent to child and sibling to sibling. When both parents have scoliosis, the risk that their children will require treatment is 50 times that in the general population.7
                        Last edited by Pooka1; 05-06-2010, 05:58 AM.
                        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


                        • #57
                          Originally posted by Pooka1 View Post
                          If I recall correctly, he has been at 10* - 11* for at least a year. It certainly looks like he might not progress and may even resolve spontaneously. Everyone here certainly hopes so.

                          We know from the Greek study that a fair percentage of kids don't progress and even resolve completely absent any treatment whatsoever. So it will be impossible in practice to claim the PT did anything whatsoever.
                          That is very interesting, since my son at about age 8, had a small curvature that, at the time looked greater than my daughters. When I had them rechecked, his had dissappeared and hers had progressed. I think hers is continuing to progress, as I can "see" it, however I haven't seen her X-rays from the chiropractor as she has not made me privy to that information.
                          Be happy!
                          We don't know what tomorrow brings,
                          but we are alive today!

                          Comment


                          • #58
                            Scoliosis

                            Rohrer01

                            I sincerely hope these thing work. He's awfully young do be diagnosed with scoliosis. It's usually diagnosed around puberty. Did you all see it? Does he have idiopathic scoliosis or congenital scoliosis?
                            My son has Juvenile Scoliosis.

                            Age 4: Doctor noticed a small rib hump, no x-ray taken, told us to wait and see.
                            Age 5: Rib hump grew. Doctor sent us to a Scoliosis specialist who diagnosed him with a 12 degree curve
                            Age 5.5: Recheck measured 11 degrees
                            Age 6: Recheck measured 10 degrees

                            At Scott's age 6 recheck I was surprised that the doctor didn't say 5 degrees. Both his rib hump and curve had diminished considerably.

                            He has his 7 year checkup in late September. Scott went through a growth spurt this year and for a while it looked like his curve (especially his rotation) had grown worse. But then after a while it started to look better again. I just pray that his curve stays under 20 degrees until he's about 8 and can start TRS therapy. I'm going to buy a used machine so we can do it at home. A mom on this board Turtlelover purchased a used Cybex machine for a few hundred bucks so her daughter could exercise at home. 6 months later her curve dropped 5 or 6 degrees. In previous rechecks it had been progressing.

                            BTW you are probably correct in your assumption that exercise held your curve for a while. A lot of evidence (scientific and anecdotal) points to the fact that muscle mass protects the spine from Scoliosis.

                            Relation between adolescent idiopathic scoliosis and morphologic somatotypes

                            CONCLUSION: Adolescent girls with progressive adolescent idiopathic scoliosis have a morphologic somatotype that is different from the normal adolescent population. Subjects with progressive adolescent idiopathic scoliosis are significantly less mesomorphic than control girls. This observation may be of value as a predictive factor for early identification of subjects with adolescent idiopathic scoliosis at greater risk of progression.
                            I have nothing against Scroth or other therapies designed to help children with Scoliosis. But from what I read it's simple muscle mass and physical size that protects the spine. That's probably one reason that according to this study from 2006 50% of Juvenile cases end in spinal fusion. Their small bodies simply don't posess enough mass to protect their spines from progression.
                            Last edited by Dingo; 05-06-2010, 10:02 AM.

                            Comment


                            • #59
                              Originally posted by Dingo View Post
                              Rohrer01



                              My son has Juvenile Scoliosis.

                              Age 4: Doctor noticed a small rib hump, no x-ray taken, told us to wait and see.
                              Age 5: Rib hump grew. Doctor sent us to a Scoliosis specialist who diagnosed him with a 12 degree curve
                              Age 5.5: Recheck measured 11 degrees
                              Age 6: Recheck measured 10 degrees

                              At Scott's age 6 recheck I was surprised that the doctor didn't say 5 degrees. Both his rib hump and curve had diminished considerably.

                              He has his 7 year checkup in late September. Scott went through a growth spurt this year and for a while it looked like his curve (especially his rotation) had grown worse. But then after a while it started to look better again. I just pray that his curve stays under 20 degrees until he's about 8 and can start TRS therapy. I'm going to buy a used machine so we can do it at home. A mom on this board Turtlelover purchased a used Cybex machine for a few hundred bucks so her daughter could exercise at home. 6 months later her curve dropped 5 or 6 degrees. In previous rechecks it had been progressing.

                              BTW you are probably correct in your assumption that exercise held your curve for a while. A lot of evidence (scientific and anecdotal) points to the fact that muscle mass protects the spine from Scoliosis.

                              Relation between adolescent idiopathic scoliosis and morphologic somatotypes



                              I have nothing against Scroth or other therapies designed to help children with Scoliosis. But from what I read it's simple muscle mass and physical size that protects the spine. That's probably one reason that according to this study from 2006 50% of Juvenile cases end in spinal fusion. Their small bodies simply don't posess enough mass to protect their spines from progression.
                              Maybe your son will be fortunate like mine and it will disappear alltogether. My son is now 17 and does bodybuilding and a lot of strenght training just because he likes it. His spine continues to appear very straight. I check my children often, even though they are older. My oldest son never had a problem. I think there is definitely a link between boys and girls and the severity. I'm sure this is one thing we can agree on.
                              Be happy!
                              We don't know what tomorrow brings,
                              but we are alive today!

                              Comment


                              • #60
                                Originally posted by Pooka1 View Post
                                The torso rotation exercises are discussed on other threads. The lead author of one of those studies was on the forum discussing it also. He did his doctorate in exercise physiology or muscle physiology or something, can't recall which and did his dissertation on torso rotation PT for scoliosis. You might want to read what he said about this subject. He moved on to a post doc doing something else.
                                And I still nose around here from time to time.

                                I haven't been able to follow either argument very well. Anecdotally, several patients in my study had a first or second degree relative with scoliosis. Usually their mom or aunt. Seems like having scoliosis doesn't guarantee that your child will get it, but if you take a child that has it and look 'upstream' you can probably find something. The problem with genetics and scoliosis seems to be that passing 'something' on is so nebulous. That something could be anything and could effect any organ system. It gets too over my head too quickly for me to be able to follow it with any vigor.

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