Genetics of Congenital Insensitivity to Pain with Anhidrosis (CIPA)

[clark]

My first child has a disease very close to CIPA. While waiting for further diagnosis, I am now expecting my second child. I would apprecaite it very much if anyone could help me by answering the following questions:
1/How much is the chance of my second child getting the same disease?
2/ Is it possible to have a test to find out the condition of my second baby?

[CCF Neuro[P] MD, RPS]

Dear Clark:

I am sorry to hear about your child.  Hereditary sensory and autonomic neuropathy type IV is a rare autosomal recessive disorder characterized by congenital insensitivity to pain, anhidrosis, defective temperature control, and mild mental retardation.  There is a selective loss of unmyelinated axons and small myelinated fibers.  The gene locus for this entity maps to chromosome 1q21-22.  Mutations in the trkA gene encoding the tyrosine kinase receptor for nerve growth factor have been described in some patients.  I know you know this already, but I thought I'd put it in for others.

As an autosomal recessive gene, the chances of your next child having the disease is 25%.  As much as I know, there is no prenatal test for this entity.  Because the gene is not known for sure, we can't test for what we do not know.

Sincerely,

CCF Neuro MD

[clark]

Many thanks for the quick reply. Since it takes two carriers as parents to give birth to a CIPA patient child,I would like to know, if my first child, my wife and I myself take a test such as DNA sequencing, can such a test lead to conclusive diagnosis on

1/ whether my first child is really a CIPA patient? or alternatively

2/ whether both of my wife and I are "carriers" of the defect gene?

[CCF Neuro[P]MD, RPS]

Dear Clark:

Although the locus is known for HSMN IV the gene is not.  Therefore there is currently no available commerical test for this entity.  Therefore, one cannot yet be tested.  If your child has this entity, by definition, both you and your wife must carry this disease.  

Sincerely,

CCF Neuro MD

[Dennis Beashore]

I have arachnoiditis in the L3-4and L4-5 area I have low
back and right leg pain.I appears in the not to distant future
I must consider intraspinal pump or a neurostimulation
system as a rule of thumb which has been shown to work best
for my condition and pain type thanks for your imput.

[CCF Neuro[P] MD, RPS]

Dear Dennis:

I am not going to be able to help much.  These treatments are used when surgery fails, most of the time.  Without being able to see your lesions, I can't say.  Alot depends on the extent of the lesion and who is placing the stimulator or other device.  I would get a second opinion about either.

Sincerely,

CCF Neuro MD