Disease Background. NF includes two distinct genetic disorders of the nervous system, NF1 and NF2. These disorders usually result in tumors involving nerves anywhere in the body; however, non-nervous tissue such as bone and skin also can be affected. Together, these two genetic disorders affect more than 100,000 Americans of both genders and all ethnic groups. NF1 and NF2 are usually inherited as autosomal dominant disorders. Therefore, a parent with NF has a 50% chance of passing on the disorder to his or her child. However, 30% to 50% of NF1 and NF2 cases arise as a result of a spontaneous genetic change. Tumors that develop in individuals with NF can cause disfigurement, deafness, blindness, bone deformation, learning disabilities, and in some cases death. The tumors that appear in NF patients can vary significantly, even among affected individuals in the same family. Surgical intervention can provide
palliative relief; however, no cure exists.

--

 

NF type-1 is a common autosomal dominant genetic
disorder with an incidence of 1 in 3,500 births.

NF Type-2 is less common, occurring in 1 of every
40,000 births.

NF is an unpredictable disorder that varies in its
medical, physical and psychological manifestations.

Half of those with NF inherit the disorder, while the
other half acquire it through spontaneous genetic
mutation. In addition, children born to an adult with
NF have a 50% change of inheriting NF themselves.

Approximately 40% of children with NF Type-1 also have
a cognitive or learning disability; approximately 50%
have school problems; one third have repeated a grade
and nearly half are in a "special" class.

Physical manifestations of NF can include scoliosis,
spinal cord and brain tumors, early or delayed
puberty, visual impairment or blindness, speech
impediments, deafness or hearing impairment and
balance problems, headaches, sever itching, high blood
pressure, pain, vomiting, chronic constipation and
diarrhea. Variability is extremely high between
individuals; many persons have no, or only a few,
symptoms.