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?
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.
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?
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.
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.
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.
Copyright 1994-2018MedHelp.All rights reserved. MedHelp is a division of Vitals Consumer Services, LLC.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. MedHelp is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.