View Full Version : genetics

10th July 2004, 05:37 PM
Does anyone else have a genetic cause for their scoliosis? Mine is caused by neurofibromatosis type I (NFI) for those of you who didn't know.

I tried to start this thread under medical condition but it wouldn't come up.

10th July 2004, 07:37 PM
Mine is caused by my chiari malformation type 1 syringomyelia

10th July 2004, 08:37 PM
Yay I can put my name with Kayla's post, too.

My scoliosis was caused by a chiari malformation type 1 with syringomyelia and a syrinx and all that jazz. However, my doctors are not sure if mine was genetic or even congenital, or if the chiari was there all along, but only became "active" when I hit adolescence.

And Joy, I think the medical condition board is aimed to be a links and information section .. and so only the moderators can post there .. I think! Nice idea for a thread, though. Will be interesting to have people's responses collated in one place. =)

10th July 2004, 09:38 PM
yah I remember I saw titch posted about chiari and I wanted to respond and it wouldnt let me and she said its only mods who can becasue she doesnt want it to get out of topic..strictly info

10th July 2004, 10:53 PM
You're quite right Kayla :-) I think I should probably change the forum description so that it can easily be seen that only mods can post in there.

I'll link this thread from a new one in there, and that way, any future threads that are general threads on the genetics and conditions that can be related to scoliosis can also be linked - so that they are all found in the same thread.

Feel free at any time to pm suggestions of threads that should be linked from there if it seems like they've been missed though and it can easily be done :D

11th July 2004, 12:35 AM
Oh good, I thought I messed my computer up yet again. *whew*

My surgeon thinks the NF could be the reson my scoliosis progressed so rapidly. I mean it increased 45 degress to 67 in five months and I wasn't even growing much in that time period.

11th July 2004, 02:10 PM
Apparently my Mum's Aunt has Scoliosis, but my surgeon still diagnosed my Scoliosis as idiopathic rather than genetic for some reason.

11th July 2004, 08:06 PM
I have Adolescent Idiopathic, but my mum has some rotation.

11th July 2004, 10:40 PM
Jess - they need a specific genetic condition. Your scoliosis would be classified as idiopathic because they still don't know *what* caused it. It could be inherited, but they haven't identified a gene for scoliosis. Therefore, it's still idiopathic, even if relatives have it. Mine is actually classifed as neuromuscular, even though it is caused by a genetic condition. It's kinda confusing... I might be wrong, I've read some conflicting information.

12th July 2004, 01:19 AM
No one in my family has ever had scoliosis before lol. I started it lol everyone will blame me in the future hahaha !! :D

14th July 2004, 05:09 PM
my mom heard that it goes through in cousins.... so we are guessing that one of my cousins have it... I dunno though

14th July 2004, 05:37 PM
None of my cousins have it lol. . .

14th July 2004, 06:20 PM
Joy- Scoliosis and genetic conditions: NF, Marfan's syndrome, Duchenne disease, Friedreich's ataxia, Turner's syndrome, Osteogenesis imperfecta, Charcot-Marie-Tooth disease, Klippel-Feil syndrome... And some more probably.

Kayla, Lucinda- Is a Chiari malformation inheritable?

14th July 2004, 06:53 PM
It is something that is present at birth, but may not cause any problems until you are older .. sometimes some people can walk around living with a chiari with no symptoms at all.

From what I've read, medical teams haven't been able to prove that it is passed on between parents and children, and that when children do have it as well as the parent, it is a coincidence. No one else in my entire family (as far as we know) has a Chiari of any type.

From the link I submitted in the other medical conditions board, you can read this:

"The exact cause of the Chiari malformation is unknown. It has been suggested that during early embryo development of the brainstem and spinal cord, the malformation occurs. An abnormally small posterior fossa forces the brainstem forward."

14th July 2004, 07:20 PM
well lidnzi one of your cousins could have it and not know it even if its just like 9 degrees

14th July 2004, 07:27 PM
Thank you, Lucinda! So it's still unclear, but it's probably something that went wrong during the embryonal development.

15th July 2004, 01:17 AM
Neuromuscular scoliosismay result from asymmetric innervation or unbalanced muscular function, most commonly cerebral palsy. Abnormal curvatures may also occur after traumatic paraplegia or quadriplegia, spinal muscular atrophy, Friedreich's ataxia, familial dysautonomia, hypertrophic interstitial polyneuritis and peroneal muscular atrophy. Although pelvic obliquity is characteristic, in some cases neuromuscular scoliosis may be indistinguishable from idiopathic scoliosis.
The scoliosis associated with neurofibromatosis has classically been described as one with sharp angulation and associated kyphosis. Paravertebral soft tissue mass, deformed transverse processes, enlarged vertebral foramina, marked rotation of the spinal curvature, and a coarsened and sclerotic trabecular pattern are common.

http://www.amershamhealth.com/medcyclopaed...1/scoliosis.asp (http://www.amershamhealth.com/medcyclopaedia/medical/Volume%20III%201/scoliosis.asp)

15th July 2004, 01:24 AM
Lucinda cant car accidents also cause chiari? Or does it just come to the point that after a car accident your rushed to the hospital and have a CT and it shows up?

15th July 2004, 06:34 AM
Well, from what I've read, like that article said, the exact cause of the Chiari is unknown .. but the most widely accepted generalisation is that it is present in birth.

That being said, there's always going to be exceptions to the rule, especially when the rule is a generalisation and only suggested! I think I've read .. and I may be wrong here .. that a syrinx/syringomyelia can be caused through trauma to the spinal cord, like in a car accident. But I'm not sure if a Chiari can be caused that way. Of course another cause of a syrinx/syringomyelia is by an actual Chiari.

It's something I've being trying to research for ages, how both of them are caused. But everything I've read says "suggested" and "widely accepted" and "unknown cause." It's rather frustrating!

16th July 2004, 10:23 AM
There's a school of thought that fibromyalgia is often brought on by car (and other) accidents that involve whiplash and neck injuries. I was doing some reading up a while back after a friend was diagnosed with it (interestingly my friend has scoliosis, although it is a fairly small curve - although in his case it may be related to suspected Klinefelters syndrome), and it was pretty scary reading that typically the people who developed it after an injury didn't respond to treatment and suffered huge amounts of problems - problems that when described read as being rather too similar for comfort to the description of problems suffered by people with Chiari. There's a whole load of things that really need more research into them, so that more can be said than suggested, and widely accepted.

21st July 2004, 02:07 AM
I'm working on it Titch. But I have to get through high school ( :nut: )and uni and into med school first, OK? Just wait. I'm going to be a famous researcher someday. Also I'm going to help put health-care infastructure into place in developing and third world countries.

But back on topic. I read one paper that theorized that a scoliosis gene may be found on chromosone 17. Where NF is, the kind I have. It was just a theory though, he didn't have much evidence.

21st July 2004, 11:02 AM
Have you read this Italian paper: Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet. 2002 Oct;111(4-5):401-4. Epub 2002 Aug 21.
The NF-1 gene has been localized to chromosome 17 at band q11.2. But the q stands for the long arm of the chromosome, and the p is the short arm..

Other researchers discovered a gene on chromosome 19: A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3. Am J Hum Genet. 2002 Aug;71(2):401-6. Epub 2002 Jun 28.

This could be interesting too:
SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis. Hum Genet. 2004 Jun;115(1):81-9. Epub 2004 Apr 16.
Syntrophins are a group of cytoplasmic peripheral membrane proteins that associate directly with dystrophin, the Duchenne muscular dystrophy gene; gamma1-syntrophin has been shown to be a neuronal cell-specific protein.
The gene for gamma1-syntrophin is found on chromosome 8!

There's still a lot of research to do, Joy. Have fun with it! ;-) Or were you more interested in diabetes? :roll:

1st August 2004, 11:55 AM
I like Titch's idea about "idiopathic" scoliosis being possibly one of the only noticeable symptoms of an inherited general connective tissue disorder. When lots of SSO were all together earlier this month we certainly discovered we could do certain things that for instance the nurses couldn't do, like push the last joint of our fingers backwards to about 45 degrees past straight, which seems to mean something.

Just for the record, my dad's sister had scoliosis surgery (no metal) in Stanmore about 30 years ago, my mum has significant scoliosis, and my dad probably had it too. My dad's other sister also has some scoliosis. I wonder if we could help researchers with an idiopathic scoliosis study or something.

Sorry, only just noticed this thread!

1st August 2004, 12:29 PM
Originally posted by Jonny@Aug 1 2004, 11:55 AM
When lots of SSO were all together earlier this month we certainly discovered we could do certain things that for instance the nurses couldn't do, like push the last joint of our fingers backwards to about 45 degrees past straight, which seems to mean something.
I think I can do that too, but I'm not quite sure what you mean. But I can do strange things with my fingers. Like when I push both sides of my hand, my pink and index finger take place under my ring and middle finger. It seems almost if I can fold my hand double.

1st August 2004, 01:02 PM
^^ what I meant. A lot of us seem to be able to do it.

1st August 2004, 01:32 PM
Whoa, I missed that when we were visiting you Jonny, but I just tried it and I can do it but LB can't!!! :D

1st August 2004, 01:39 PM
I wonder if scoliosis could be caused by us having extra-flexible collagen, or something? Does anyone know if there is a method of testing this? It could explain how a spine could grow out of shape......Imagine, if they tested children's collagen flexibility levels, and could work out if that child was likely to develop scoliosis or not.....

Or is that a dumb idea? I don't really know what I am talking about :D

ETA: Ooh lookey, some medics are actually looking at this!



"Nordwall et al.8 studies the collagen of scoliotic patients by analysing the biomechanical properties and the chemical composition of the interspinous tendons and ligaments, the articular elasticity as well as the maturity of collagen."


1st August 2004, 02:07 PM
yup, I can do that too. The family's coming over today so I'll have them do it too :-) See who's given me the bad spine :P

1st August 2004, 02:14 PM
I didn't think of that BlueIce - there may be other members of our families who can do this finger-bendy thing but don't have (diagnosed) scoliosis! Wow. That's something to experiment with.....Jonny, can your mum do it? (We know Jonny's mum has scoliosis too).

1st August 2004, 02:16 PM
She can do it, yeah.

1st August 2004, 02:32 PM
My mom couldn't do it, although an old masseur of mine once said that she has it too. But nobody ever looked at it so basically she isn't diagnosed with scoliosis.

I think my boyfriend can do it too, but not as much as I can. I'll check that in a moment and let you know. Maybe some people without scoli can do it but just not as far.

1st August 2004, 03:56 PM
I can't do it.

1st August 2004, 06:31 PM
There are bound to be exceptions, I guess.

1st August 2004, 07:08 PM
Hope you don't mind Jonny, I've pinched your bendy finger pic and created a poll in my LJ asking if my LJ buddies can do it or not. I haven't said why, yet.....it will be interesting to see whether most of the "Yes" answers come from SSOers! :D

1st August 2004, 08:05 PM
I've just caught up with this one - I can do the finger thing, but I haven't got scoliosis. Obviously Erin is a little young at the moment to see if she can do it. Just thought I'd chip in.

1st August 2004, 08:10 PM
Hey I can do that finger thing aswell :D Just checked and Craig can't do it :glee:

1st August 2004, 08:16 PM
I can't really do the finger thingy!!....but my 4 yr old son can bend his legs around the knee joint like a contortionist....it's actually freaky to see him do it and he can make my stomach churn with the way he can twist his elbows.

1st August 2004, 08:25 PM
I can do it... but so can my sister. She hasnt been diagnosed with scoliosis yet though... interesting observation Jonny!

1st August 2004, 09:09 PM
I can hyper-extend my arms so my elbows appear to bend backward. And I can do the finger bend thing. But my younger sister can do the finger bend thing, and she doesn't have scoliosis. I think my mom can, too... I remember doing this once before. I know my dad isn't flexible at all.

1st August 2004, 09:12 PM
I cant really do it. I took your LJ poll Toni!

2nd August 2004, 12:31 AM
Not at all Toni :-D Kayla, because your scoliosis has a known cause that's probably different from most of our scoliosis causes, I wouldn't worry if you can't. Same goes for Lu and Ivy and anyone else I've forgotten (sorry!)

2nd August 2004, 01:40 AM
thats kinda weird though that people with scoliosis can do that

2nd August 2004, 04:43 AM
I can do the finger thing... I can bend it 90 degrees past straight. I have double jointed fingers. I don't know if others in my family can do it. I'll check!

2nd August 2004, 07:09 AM
Originally posted by Jonny@Aug 1 2004, 10:31 PM
Not at all Toni :-D Kayla, because your scoliosis has a known cause that's probably different from most of our scoliosis causes, I wouldn't worry if you can't. Same goes for Lu and Ivy and anyone else I've forgotten (sorry!)
I can do it! I am very bendy everywhere, actually ..

To throw a bit more into the topic at hand .. a few years ago in first year psych at uni, we were taught that a lot of people who are double jointed or can do things like what you guys are investigating here, are due to a genetic mutation at birth. It sounds bad, doesen't it, a mutation! But anyway, they also included the widow's peak thing in some peoples hairlines, and dimples in your cheeks as examples of genetic mutation.

Just thought I'd let you know that to keep it interesting! Maybe if it is due to a genetic mutation you could still do all these bendy things even if you didn't have scoliosis? Sounds like we're starting to get into a philosophy debate!

*runs away*

2nd August 2004, 10:48 AM
I'm double jointed in my fingertips anyway which is why I'd never thought about a connection. I can lock the tips of my fingers in the opposite direction to our finger trick. The bones click and it's a bit gross :ph34r:

2nd August 2004, 06:07 PM
OK, so far, I have had 19 replies to the Bendy Finger Poll in my LiveJournal.

13 people can bend their fingers back, and 6 cannot.

Out of the 13 people who can, 10 have scoliosis and 3 do not.

Out of the 6 who can't, only 1 has scoliosis; that is Kayla - whose scoliosis is caused by Chiari, rather than being classed as "idiopathic".

Interesting! :-)

2nd August 2004, 06:16 PM
Yeah, this is very fascinating :D I'm reading that article "The Role Of Collagen In The Pathogenesis Of Idiopathic Scoliosis" now! :niceone:

2nd August 2004, 08:41 PM
Liv, where do I get those papers from??? I want to read them!!

Personally I's like to investigate a biochemical side of scoliosis. But I love biochemistry. It's was my favorite unit in bio. Enzymes are very interesting. Very very interesting.... (yes, I know I'm wierd)

This is what I had about collagen in my project (the teachers have to be able to undestand):

Collagen is the most abundant protein in the body. It is also the main part of collagen fibers, which are found in all connective tissues. It keeps tissue from over-stretching, because collagen fibers can only stretch so far and then they lock. Therefore, collagen is very important to the spine. If there were collagen abnormalities in the ligaments that help support the spine, this could cause the ligaments to stretch more or less on one side, which could cause scoliosis.

There are two theories about connective tissues abnormalities and how they might cause scoliosis.

An enzyme that is called matrix metalloproteinase has been found in higher than average levels in the discs of people with scoliosis. This enzyme is involved in the remodeling and repair of collagen, but there is evidence that it can contribute to disc degeneration and abnormalities in collagen if levels are too high.

Another theory states that scoliosis could possibly be caused by a defective gene which is responsible for the production of fibrillin. Fibrillin is another protein found in connective tissue and may be very important to the elasticity of such tissues. There is also evidence that it may be affected by matrix metalloproteinase. For example, scientists found that six different types of matrix metalloproteinase degraded synthesized fibrillin protein. Some evidence suggests that people with scoliosis may be more susceptible to other connective tissue disorders. There are studies which clearly support fibrillin abnormalities in people with scoliosis. However, one study showed that 80% of people with scoliosis had normal fibrillin production

Connective tissue makes up almost the entire spine, so any problems with it could cause scoliosis. There are other things that could cause abnormalities in connective tissue besides collagen or fibrillin abnormalities. For example, there could be something wrong with the way the bones form or the way the ligaments grow with the spine.

2nd August 2004, 08:49 PM
Originally posted by tonibunny@Aug 1 2004, 12:39 PM
ETA: Ooh lookey, some medics are actually looking at this!


This paper, Joy? You should thank Toni! :-)

PS: you're not weird.. Biochemistry rocks! :hammer:

2nd August 2004, 09:17 PM
I can do it a little bit Toni but your ool didnt have a little bit so I figured I just reply no lol

3rd August 2004, 04:22 AM
My index and little fingers will just about bend to 45 degrees, but the others bend far less. Over all I am definitely not flexible, and never have been. My scoliosis is idiopathic. However this doesn't necessarily contradict the theory. I think there is probably more than one cause of idiopathic scoliosis - after all idiopathic just means they don't know what caused it. Maybe my lack of flexiblilty is why my scoliosis has not progressed significantly, and has given me no problems, despite being over the "magic" 40 degrees.

It would be good if collagen testing , or something similar, could come up with an indication of whether or not a curve will progress, thus giving a better idea of whether or not surgery is necessary.

3rd August 2004, 06:22 AM
What about that Italian one? Is it on the net?? ...must read....

Biochem totally rocks! :niceone: I want to major in it for my undergrad degree. Many people think I am insane for this but it's SO COOL.

nutmeg - I agree. There probably is more that one cause. I mean why would 85% of cases have the same cause??

Edit - oooooh a whole site!! I think I used this one for my project. Maybe. I'd have to dig up my bibliography.


That's my doctor - J Mahood. He even explained about the chickens to me but as I was rather drugged up at the time I can't quite remember what he said..

3rd August 2004, 12:03 PM
when I had my family test it someone said that if you cut place your tumb against your wrist, that it means your very flexible. I can do that with my left hand, and almost do it with my right hand (probably because I'm righthanded) so maybe that explains why my fingers bend that way.

3rd August 2004, 12:53 PM
I can't do that with my thumb! :roll:

Joy - for those "scoliosis and genetics" papers, go to PubMed: http://www.ncbi.nih.gov/entrez/query.fcgi
and search for the PMID codes: 12384783 (the Italian paper about chromosome 17), 12094330 (a Chinese paper about chr 19) and 15088139 (a very recent American paper about a candidate gene for IS). Those are just abstracts, but you can click on the "Springer" link and read the full texts if you're interested!


3rd August 2004, 05:31 PM
Oooh. Thanks!! The one I read about chromosome 17 was by some weirdo who wasn't even a doctor! Blathering on and on about chromosones and soil erosion...

3rd August 2004, 05:34 PM
Jonny babe

A geneticist didn't think I had Marfans although I have some characteristics of it. My scoliosis as far as doctors are concerned is idiopathic; my mother first noticed it when I was around 7.

Marfans (and a bunch of similar conditions) is a connective tissue disorder so I heard about fibrillin and all this stuff ages ago. I'm sure one day we'll know a lot more about things that cause scoliosis, I just don't think we'll be able to easily say that all idiopathic scoliosis is caused by one marker on one chromosome, for example. But that's just my 2c worth based on sheer ignorance so feel free to disagree.

Yep, I can touch my wrist with my thumb (I was asked to demonstrate it by doctors many times) and bend my fingers back etc. As a kid I could put my legs around my neck and walk like a crab, also my back was bendy like a contortionist.


3rd August 2004, 07:13 PM
Yes Jonny BABE! lol