Degenerative Disc/ Genetics?

[Karen]

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

Karen

[CCF Neuro[P] MD, RPS]

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.  



Sincerely,



CCF Neuro MD

[Karen]

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

[CCF Neuro[P] MD, RPS]

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.



Sincerely,



CCF Neuro MD

[stephen]

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.

[CCF Neuro[P] MD,RPS]

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

[stephen]

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.

[CCF Neuro[P] MD, RPS]

thanks for the comment.



CCF Neuro MD

[Joe Cruden]

have rather advanced gegenerative arthritis at C3-C4, C5-C6 AND C6-C7 levels. there is also narrowing of the apophyseal joints at these levels. There are prominent anterior and posterior osteophytes at the same level. there is no compression fractures.

and no evidence of subluxation.  I was diagnoised with ulcerative colitis 43 years ago, and took prednisone for 10 years before having an ileostomy, I have aways had joint pain even before finding the UC, It seems many people with ulcerative colitis also have arthritis, do you think the arthritis is part of the ulcerative colitis, or from the use of prednisone?

[CCF Neuro[P]MD, RPS]

Dear Joe:



The UC can reduce absorption of essential minerals and nutrients, while the prednisone can reduce bone mineralization.  I would think that both had a influence on your spinal problems.



Sincerely,



CCF Neuro MD