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Avatar universal

Degenerative Disc/ Genetics?

Dear Doctors:

I hope you will be able to give me some information regarding
my condition.
I am 47 yrs old and have undergone 3 cervical spine surgeries:
96- Ant Fusion C5-6
98- Ant. Fusion C6-7
99- Decompression Laminectomies C4-C6 plates and screws.
    (severe spinal stenosis compressing cord to 5mm)
After each surgery, there was little improvement and I am still
experiencing symptoms of Numbness, pain, weakness bilateral
arms and legs.
I recently had a CT Myelogram which showed. New bone spur growth
at C3-4 causing spinal stenosis, spinal stenosis remains at
C5-6. Severe Myelomalacia C4-C7.
My neurologist has indicated further surgery is not an option and
stated that research has been done and a genetic marker found
for degenerative disc disease.  Allele COL9A2.  It has something
to do with erradic bone growth (spurs etc).  Have you heard of
this, and is there research being done in the US?
Also, he stated myelomalacia does not progress on its own, yet
I find increasing weakness, with everything I do.
Any insight would be greatly appreciated
Thank You

9 Responses
Avatar universal
Dear Karen:

I am not aware of a specific allele associated with degenerative disc disease (unrelated to other systemic diseases known to be associated with disc degeneration, i.e. osteoarthritis).  Myelomalacia is a term used for destruction of the spinal cord.  As a term for a group of entities that lead to a destructive process, it does not progress.  However, the degree of myelomalacia does change and can involve wider areas of the spinal cord.  I am sorry to hear about all your surgeries.  If I hear about the genetic connection, I will answer you again.  


CCF Neuro MD
Avatar universal
Thank you for your response.  In regards to the change in degree
of myelomalacia, is there any treatment medically to stop or
retard this process?
Tnanks again
Avatar universal
Dear Karen:

There is really no treatment as the process is from the insult to the spinal cord. By the time it is noted, the process is usually finished.


CCF Neuro MD
Avatar universal
If you put "COL9A2" into a web search engine, you'll find a lot of information on this.  It looks like the mutant allele at COL9A2 may explain something like 10% of all cases of sciatica.  Earlier studies have shown that there's a genetic component to DDD, but the indiviual genes involved are not yet identified and may be quite numerous.
Avatar universal
Dear Stephan:

10% is a very small number and the number of patient with sciatic is extremely large.  An association does not make a genetic connection.

CCF Neuro MD
Avatar universal
Actually 10 percent of a large number of patients is a lot of people, but I agree with what I think you're suggesting: that a statistically significant but weak association of an allele at one genetic locus with a condition does not help us explain the disease, and it's really no use to the patient.  This collagen locus may only be LINKED (and perhaps only loosely linked) to a locus with an effect on DDD.  There was a similar finding some years ago about a vitamin D receptor locus and DDD ascertained by MRI.  No doubt DDD is affected by many genes to varying degrees, and the idea that researching the mechanisms of all these genes will help patients is far-fetched at this point, partly because knowing the mechanism won't necessarily suggest a cure, and as you suggest only a small proportion of DDD patients will have the same faulty gene(s)in common, even when the disease is understood.
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