|
|
Neurofibromatosis
Get the facts on Neurofibromatosis treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Neurofibromatosis prevention, screening, research, statistics and other Neurofibromatosis related topics. We answer all your qestions about Neurofibromatosis.
Question: Neurofibromatosis? I have Neurofibromatosis type 1 and im looking for penpals who have Nf if any of you have Nf or know anyone with Nf reply to me : ) . I am 16
Answer: I have NF, I was born with it, but we didn't really find out that I really had it until I was 15. I'm 23 now.
Question: Neurofibromatosis is a condition in humans which is generally inherited in a dominant fashion. Assuming this? Neurofibromatosis is a condition in humans which is generally inherited in a dominant fashion. Assuming this disorder is 90% penetrant, what is the chance that a single child born to a father with neurofibromatosis and a mother known not to carry the mutation will have the disorder?
Answer: For every pregnancy, the risk is
Approx 50% for the child in having the disease. Sex of the child appears to not be important. It appears equally in both. It appears not to be straight Mendelian in inheritance.
As well, people with no relatives have this disease.... apparently a mutation.
But this disease isn't all that predictable.
Some of those who indeed have this disease, don't have disfiguring problems. They barely know that they have it, even as they age. Another person with the disease has so many tumors as to have a condition almost not fixable.
Google it.
Question: How many of you have heard of Neurofibromatosis? Neurofibromatosis (NF) is a neurological disorder that although fairly common, is hardly heard of. What it does is cause tumors to grow along the nerves, randomly, in the body or on the skin. It can also cause a lot of other things, ranging from scoliosis and learning disabilities to cancer. It is a genetic disorder, progressive, and has no cure.
As a mom of two kids with NF, I have been working towards bringing awareness to my community. I am just curious as to how many people reading this might actually have heard of NF, or possibly either have NF or know someone who does.
Answer: i have NF
did you know your kids have a 50/50 chance of passing it on.. to their kids..
?
Question: Neurofibromatosis lumps and cancerous Lumps how do you tell the difference? I have Neurofibromatosis and have some N.f lumps in various places im just wondering if anyone who suffers from this Neurofibromatosis can advise me on how to tell the difference in touch or the way they look to determin if they are indeed cancerous or N.f
Answer: The incidence of vonRecklinghausen's disease becoming neurofibrosarcomas is very rare. In reviewing the literature for an article I wrote, I found the possibility of malignant transformation far down on the possible serious side effects. A tumor suddenly growing could be biopsied.
Question: Is there anyone else out there with Neurofibromatosis? If so, have you ever tried holistic medicine or alternative medicine? Do you think accupuncture or accupressure will eliminate the bumps associated with Neurofibromatosis?
Answer: I have NF1, and have a number of neurofibromas at various places of my body. I have had several cut out over the years but as you know, new ones will form from time to time. Since the condition is genetic, I do not think there is an alternative medicine that can help... but I have researched high and low. I share your stress over wishing there was a way to make the bumps go away. Depending on if the bump is more on top of the skin or below, some have found success with laser treatment.. but regardless of how the tumor is removed there is usually a scar. For me, every few years will have the doctor remove the largest or most visible ones. I pray that you can still find peace in that you are of great value and worth as a person despite the imperfections. I wish you the very best.
Question: What type of genetic mutation results in neurofibromatosis? I looking for a general answer such as, substitution, deletion, or insertion... I can't seem to be finding that on the web.
Answer: Neurofibromatosis type 1 and 2 are autosomal dominant disorders. They are both caused by creation of dysfunctional proteins that should be (if functional) preventing the disease. As a result of multiple factors (for example, substitution, deletion, or insertion), the proteins that are created do not serve their purpose of "tumor suppression." Most commonly, the proteins are truncated, as a result of a splice site mutation. mRNA tests are not often done to determine the exact mutation, as hundreds of mRNA mutations have been identified.
The most common (ie: cheapest) tests run on patients with the disease do not allow identification of the exact gene mutation, only a change in the size of the dysfunctional protein created, so it is therefore difficult to determine with any accuracy whether the disease is caused by substitution, deletion, or insertion (as it could be caused by all three).
Question: What is the difference between neurofibromatosis and proteus syndrome? Are they the same thing?
Answer: Neurofibromatosis is a genetic disorder that can cause tumors to form anywhere on the nervous system at any time, while Proteus Syndrome is a condition which causes abnormal growth of the skin and bones- having nothing to do with the nervous system (as far as I know.) PS may cause tumors also, but most of them are benign.
|
