I m having backproblem from last five years doctors say u r having neurofibromatosis & it can only be cured by operation so what to do? Neurofibromatosis (NF) is a genetic disorder of the nervous system which causes tumors to form on the nerves anywhere in the body at any time. This progressive disorder affects all races, all ethnic groups and both sexes equally. NF is one of the most common genetic disorders in the United States
There are two types of NF, NF1 & NF2.
Neurofibromatosis itself can not be cured. However the tumor can be removed. this will not prevent it from coming back or another growing elsewhere in the body.
Trust me if it could be cured I would have done it a long time ago. I would also have my daughter cured. neurofibromatosis:A genetic disease characterized by the formation of neurofibromas, sometimes accompanied by physical deformation and a predisposition to brain tumors and various forms of cancer.
neurofibromas:A usually benign tumor originating in peripheral nerve fibers and composed chiefly of Schwann cells. i did a report a long time in high school about this....it seemed like a pretty serious thing... there is much information on the web for this though. Neurofibromatosis :
Neurofibromatosis is an autosomal dominant genetic disorder. It encompasses a set of distinct genetic disorders that cause tumors to grow along types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. The tumors can grow anywhere on or in the body.
History :
Joseph Merrick, the Elephant Man, was once considered to have been afflicted with either elephantiasis or neurofibromatosis type I. However, it is now generally believed that Merrick suffered from the very rare Proteus syndrome or perhaps a combination of the two conditions.
Types :
There are two major forms and one newly discovered form:
Neurofibromatosis type I (was known as Von Recklinghausen disease after Friedrich Daniel von Recklinghausen). Incidence is 1:3000.
Neurofibromatosis type II (or "MISME Syndrome"). Incidence is 1:40,000.
Schwannomatosis is a rare form that is clinically and genetically distinct from types I and II. Multiple Schwannomas (rather than Neurofibromas) occur, and about one-third of patients have these tumors in only one part of the body. Incidence is 1:40,000. The vestibular nerve is spared. Pain is the primary symptom, although numbness, tingling and weakness can also occur. Schwannomas are always benign.
Six other, extremely rare, forms are also recognized:
Mendelian Inheritance in Man (OMIM) 162210
Mendelian Inheritance in Man (OMIM) 162220
Mendelian Inheritance in Man (OMIM) 162240
Mendelian Inheritance in Man (OMIM) 162260
Mendelian Inheritance in Man (OMIM) 162270
Mendelian Inheritance in Man (OMIM) 601321
Symptoms :
Neurofibromatosis type 1 - mutation on chromosome 17
multiple neurofibromas on the skin and under the skin, the sub-cutaneous lumps are characteristic of the disease and increase in number with age.
various other skin phenomena such as freckling of the groin and the arm pit.
a predisposition to particular tumors (both benign and malignant)
the presence of 6 or more Caf茅 au lait spots (pigmented birthmarks) may suggest the presence of this condition
skeletal abnormalities such as scoliosis or bowing of the legs might occur
lisch nodules (iris nevi)- a hamartoma of iris
tumor on the optic nerve
Neurofibromatosis type 2 - mutation on chromosome 22
bilateral tumors, acoustic neuromas on the vestibulocochlear nerve
the hallmark of NF 2 is hearing loss due to acoustic neuromas around the age of twenty
the tumors may cause:
headache
balance problems, and Vertigo
facial weakness/paralysis
patients with NF2 may also develop other brain tumors, as well as spinal tumors
Deafness and Tinnitus
Schwannomatosis - gene involved has yet to be identified
Multiple Schwannomas occur.
The Schwannomas develop on cranial, spinal and peripheral nerves.
Chronic pain, and sometimes numbness, tingling and weakness.
About 1/3 of patients have segmental Schwannomatosis, which means that the Schwannomas are limited to a single part of the body, such as an arm, a leg or the spine.
Unlike the other forums of NF, the Schwannomas do not develop on vestibular nerves, and as a result, no loss of hearing is associated with Schwannomatosis.
Patients with Schwannomatosis do not have learning disabilities related to the disease.
Genetics and Hereditability :
Neurofibromatosis type 1 is due to mutation on chromosome 17q11.2 , the gene product being Neurofibromin ( a GTPase activating enzyme).[1]
Neurofibromatosis type 2 is due to mutation on chromosome 22q , the gene product is Merlin, a cytoskeletal protein.
Both NF1 and NF2 are autosomal dominant disorders, meaning that only one copy of the mutated gene need be inherited to pass the disorder. A child of a parent with NF1 or NF2 and an unaffected parent will have a 50% chance of inheriting the disorder.
Complicating the question of heritability is the distiction between genotype and phenotype, that is, between the genetics and the actual manifestation of the disorder. In the case of NF1, no clear links between genotype and phenotype have been found, and the severity and specific nature of the symptoms may vary widely among family members with the disorder (Korf and Rubenstein 2005). In the case of NF2, however, manifestations are similar among family members; a strong genotype-phenotype correlation is believed to exist (ibid).
Both NF1 and NF2 can also appear spontaneously through random mutation, with no family history. These spontaneous or sporadic cases account for about one half of neurofibromatosis cases (ibid).
Family :
Neurofibromatosis is considered a member of the neurocutaneous syndromes (phakomatoses). In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.
Neurofibromatosis in Pop Culture :
In the television series Dallas, the inherited neurofibromatosis of the Barnes family is a driving plot device, though the portrayal of the condition does leave something to be desired in terms of scientific fact. Autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities |
