How does neurofibromatosis type 1 affect the person?
NF1 can cause curvature of the spine (scoliosis) that may need bracing or surgery. NF1 is also associated with decreased bone mineral density, which increases the risk of weak bones (osteoporosis). Vision problems. Sometimes a tumor develops on the optic nerve (optic glioma), which can affect vision.
Can people with NF1 live a normal life?
Most people with NF1 have no or few medical problems and live normal lives, with no need for treatment. However, because every person with NF1 is at risk of complications from this disorder, it is important that they are regularly reviewed by a doctor who is familiar with the condition.
What is neurofibromatosis type 1 caused by?
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).
How serious is NF1?
The symptoms of neurofibromatosis type 1 (NF1) are often mild and cause no serious health problems. But some people will have severe symptoms. The symptoms of NF1 can affect many different areas of the body, but it’s unlikely someone will develop all of them.
Can NF1 tumors be removed?
If cancerous tumors develop with neurofibromatosis—for example, malignant plexiform neurofibromas, which can develop in the arms, legs, or trunk—they can also be surgically removed. For cancerous tumors, surgery may be combined with other treatments for cancer.
Can NF1 cause blindness?
The optic nerve can develop a benign tumor called a glioma in approximately 20% of patients with NF1 [See figure 4]. This tumor may cause vision problems, especially decreased central vision and peripheral visual field defects.
How to confirm neurofibromatosis?
A genetic test can diagnose a young child who does not yet have all the clinical signs of NF1.
What are the 3 types of neurofibromatosis?
Neurofibromatosis type 1 (NF1),historically called von Recklinghausen disease
How do you test for neurofibromatosis?
Neurofibromatosis Type 1 Genetic Testing. A blood test is available for genetic testing to see whether a mutation in the neurofibromatosis type 1 gene is present. A diagnosis of neurofibromatosis type 1 is still possible in people who don’t have an identifiable mutation. Testing can now also be performed for SPRED1.
How do people get NF1?
Classic: The NF1 gene change (mutation) affects all cells in the child’s body.