Neurofibromatosis is an autosomal dominant genetic disorder
of the nervous system
that causes tumors
to grow on any nerve in the body at any time
. It may or may not have been the real disease of Joshua Merrick, the Elephant Man
. It effects all races
equally, and although not many have heard of it, it is one of the most common
disorders in the United States. The effects of NF are unpredictable, and vary in both the symptoms
and the degree of severity
There are two flavors of Neurofibromatosis: NF Type 1 and NF Type 2:
Neurofibromatosis 1 is also known as von Recklinghausen disease, and it is caused by a mutation at chromosome 17q11.2. The protein normally expressed at this gene is believed to have the ability to suppress tumors, and maybe some other functions, too (this genetic stuff is still new to us, folks). The most common symptoms of NF1 look like the output of a random symptom generator:
- café-au-lait skin spots
- skin tumors
- freckles in non-sun-exposed areas
- false joints
- optic glioma
- Lisch nodules of the iris
- learning disabilities
- bone thinning
People with NF1 can expect to live 10 to 15 years less than people without the disease. NF1 tends to form tumors on the nerves
. NF type 1 affects some 1 in about 3000 births.
NF2 is located on the 22nd chromasome, and tends to form tumors in the brain, the central nervous system, and the spine. It is much rarer than NF1, occurring about once every 40,000 births. Symptoms include:
- brain tumors
- difficulty with balance
- spinal tumors.
Because of it's encyclopedia
, NF is difficult to diagnose
. The mutated proteins are not well understood
, so precise lab tests
are still not available. It will show up on a genetic test
There is no cure for NF, but there are a few treatments that depend on symptoms. In some, symptoms are mild enough that they are essentially unaffected. For others, tumors are removed or killed as soon as they are spotted, and scoliosis is corrected with a back brace. There are no drugs on the market yet that treat NF.
Gillian Anderson has made neurofibromatosis a personal cause, and has pledged her celebrity to help fight it.
Thanks to several sources on the net, including cdc, Gillian Anderson's web page, and www.nfinc.org