Have you ever heard of the genetic disorder known as nerofibromatosis (nf) because I have nf2 and I am just looking to see if it us well known?
NF syndromes. Nf is one of the best known of the neuro-cutaneous syndromes (skin findings suggest nervous system problems) is has several distinct forms. Many are new mutations but these can be inherited in an autosomal dominant fashion. A second ncs is tuberous sclerosis.
Very well known. Only about one person in 30,000 is affected, and while acoustic neuromas (often bilateral) is the most familiar presentation, the most feared is spinal cord tumors. Read up on it, because like most folks with uncommon illnesses, you'll probably need to know as much as or more than your primary care physician. A proactive, informed patient is a good patient. Best wishes.
Well known. NF2, bilateral acoustic neuromas, is much less common than NF1 and is characterized by multiple tumors on the cranial and spinal nerves. Tumors that affect both of the auditory nerves and hearing loss beginning in the teens or early twenties are generally the first symptom of NF2. Both can be genetic with genes localized to chromosomes, 17 NF1 and 22 NF2.
Yes well known. Neurofibromatosis 1 and nf2 are well known conditions. There are many expert medical professionals to help you. Since both a genetic conditions, seeing a clinical geneticist is a good starting place.
New mutation. Although this is well known to be transmitted as a dominant mutation, as many as 30% represent mew mutations in the patient. Read more...
Mutation. 50% of new NF1 cases are mutations and do not arise from inheritance. NF1 has autosomal dominant inheritance.Descendants of an affected individual have 50% risk of inheriting the altered NF1 gene. Read more...