Neurofibromatosis (NF) is a set of complex genetic disorders that affects almost every organ system, causing a predisposition for tumors to grow on nerves in the brain and throughout the body.
While half of all affected persons inherit the disorder, new cases can arise spontaneously through mutation (change) in the NF genes. Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Surgery can help to alleviate painful and disfiguring tumors.
Neurofibromatosis Defined
In most cases, symptoms of NF1 are mild allowing patients to live normal and productive lives. However, it can also be debilitating and in some cases life-threatening. NF can lead to problems within various systems, organs and functions of the body including:
- DEVELOPMENT: learning disabilities, poor school performance, hyperactivity/attention deficit
- BRAIN: brain tumors, vision loss, seizures, paralysis, headaches
- NERVES: nerve tumors, weakness, pain
- EARS: loss of hearing and balance
- BONE: scoliosis and bone deformities
- HEART: valve defects, abnormalities of the arteries
- SKIN: pigmentary abnormalities, particularly café-au-lait spots
Of the two types of NF that have been identified, Type 1 (NF1) is among the world’s most common genetic disorders, occurring in about one of every 3,000 births.
This makes it more widespread than cystic fibrosis, hereditary muscular dystrophy, Huntington’s disease and Tay Sachs combined. NF2 is less common, and affected individuals can develop brain, nerve, and spinal tumors
What is NF1?
It is more common that cystic fibrosis and hereditary muscular dystrophy combined.
NF1 has also been referred to as peripheral neurofibromatosis or von Recklinghausen disease. It differs clinically from another type of neurofibromatosis, called NF2. Individuals with NF1 will not develop NF2 and will not pass NF2 onto their children.
What is NF2?
NF2 is a genetically determined disorder which affects one in 40,000 individuals worldwide. It is clinically distinct from NF1 and is ten times less common. Individuals with NF2 will not develop NF1, and those people born with NF1 will not progress to NF2.
One of the frustrating aspects of NF2 is its variation from individual to individual. In this regard, the medical problems and the time course of NF2 may be different, even in members of the same family.
In general, most individuals with NF2 experience their first symptoms during the late teenage years or in their early 20′s. A few people develop symptoms in childhood and some do not have problems until their 40′s or 50′s.
Affected individuals develop many nervous system tumors that may require treatment. Since the tumors grow slowly, they may be present for many years before causing symptoms. For that reason, NF2 should be evaluated at least annually for tumors, hearing and cataract formation. The optimal and recommended approach involves evaluation by a multidisciplinary team of specialists who can provide a diverse and expanded-level of expertise on this condition.
Diagnosed most often in children and young adults, NF occurs worldwide and in all races, ethnic groups and both sexes. NF can appear in any family. The NF Center researchers are achieving significant breakthroughs in the diagnosis and treatment of nervous system tumors and establishing Washington University as an international beacon for NF research
