What is NF2 gene?
The NF2 gene provides instructions for the production of a protein called merlin, also known as schwannomin. This protein is made in the nervous system, particularly in specialized cells called Schwann cells that wrap around and insulate nerves.
What gene mutation causes neurofibromatosis?
Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells).
At what age is neurofibromatosis type 2 usually diagnosed?
Children with NF2 tend to have symptoms related to tumors in the brain and spinal cord. Adults diagnosed with NF2 are usually in the age range of 18 to 24 years old.
Is neurofibromatosis a terminal?
Neurofibromatosis Type 1 (NF1) In most cases, symptoms of NF1 are relatively mild, allowing patients to live normal and productive lives. However, the disorder can also be debilitating and, in some cases, life-threatening.
Does neurofibromatosis worsen with age?
Neurofibromas may increase in number with age. Bone deformities. Abnormal bone development and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or a bowed lower leg. Tumor on the optic nerve (optic glioma).
Can people with NF2 have children?
About 1 in 3 people with NF2 have a form of the disease called mosaic NF2. The symptoms of mosaic NF2 are milder and often restricted to a certain area or side of the body. People with mosaic NF2 have lower than the usual 50% risk of having a child with NF2.
Is neurofibromatosis considered a disability?
Although neurofibromatosis is a serious condition, the Social Security Administration (SSA) does not specifically list the disorder as a disability. But, the symptoms that accompany the condition can be reviewed for benefits.