Clinical genetic testing can confirm the presence of a mutation in the NF1 gene. Prenatal testing for the NF1 mutation is also possible using amniocentesis or chorionic villus sampling procedures. Genetic testing for the NF2 mutation is sometimes available, but is accurate only in about 65 percent of those individuals tested. Prenatal or genetic testing for schwannomotosis currently does not exist.
Category: Fact of the Day
NF Fact of the Day May 23rd
There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective. Pain usually subsides when tumors are removed completely, although it may recur should new tumors form. When surgery isn’t possible, ongoing monitoring and management of pain in a multidisciplinary pain clinic is advisable.
NF Fact of the Day May 22nd
Anyone with schwannomatosis experiences some degree of pain, but the intensity varies. A small number of people have such mild pain that they are never diagnosed with the disorder. Most people have significant pain, which can be managed with medications or surgery. In some extreme cases, pain will be so severe and disabling it will keep people from working or leaving the house.
NF Fact of the Day May 21st
NF Fact of the Day May 20th
The distinguishing feature of schwannomatosis is the development of multiple schwannomas everywhere in the body except on the vestibular nerve. The dominant symptom is pain, which develops as a schwannoma enlarges, compresses nerves, or presses on adjacent tissue. Some people experience additional neurological symptoms, such as numbness, tingling, or weakness in the fingers and toes. Individuals with schwannomatosis do not have neurofibromas.