FAQ - neurofibromatosis 1
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Neurofibromatosis type 1?


I have NF1. I hear doctors are working on a cure called Chromosome 17. When will this be available and how will it work? Sources?
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Chromosome 17 is the gene where the NF1 mutation is found.  (+ info)

Neurofibromatosis Type 1?


does anyone have NF1? If so, what symptoms can a person have in there early 20's or older? Are sharp pains lasting seconds to minutues in legs or arms periodically one of them? What can it cause in adults who have the disorder?
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www.nfinc.org.
www.ctf.org
www.nfinc.org
www.understandingnf1.org
http://www.genome.gov/16015146
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What are the features of Neurofibromatosis-1?
Most people with NF1 will have some but not all of the following signs:
Multiple large light colored birthmarks called café-au-lait spots, which are the hallmark of NF1 and are seen almost 100% of the time
Many freckles in the armpits and the groin
Dark growths on the colored portion of the eyes called iris Lisch nodules
Multiple small, rubbery lesions on the skin with a purplish discoloration called neurofibromas, which usually appear during adolescence or pregnancy
Areas of diffuse thickening of the nerve trunks that are frequently near the eyes or in front of the ears called plexiform neurofibromas, which are usually present from birth
Scoliosis or other bony abnormalities
Growths within the eye affect 15% of people with NF1, and some people with NF1 will have visual difficulties
A parent, brother, sister, or child with NF1  (+ info)

Neurofibromatosis Type 1 and 2?


I am wondering what the differences between type one and two NF (neurofibromatosis) are. Could someone please explain to me what they are? I would appreciate it. I don't have this disease, but I know someone who does.
The person I know who has this has the brown coffee-colored spots on the body, acts like a six-year-old, and it can cause her to get tumors.
I should also note that with NF, this person responds slower to pain than normal. I don't know what it would do for reflex actions (e.g. put your hand on a hot surface, you pull it away automatically, because you feel the pain).
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Neurofibromatosis type 1 - mutation of neurofibromin chromosome 17q11.2 (Incidence is 1:3500)
* multiple neurofibromas on the skin and under the skin; the subcutaneous lumps are characteristic of the disease and increase in number with age.
* freckling of the groin and the arm pit.
* a predisposition to particular tumors (both benign and malignant). These tumors are called neurofibromas.
* Café au lait spots (pigmented birthmarks). Six or more of these form one of the diagnostic criteria, but are not essential for diagnosis.
* skeletal abnormalities such as scoliosis or bowing of the legs might occur
* Lisch nodules (hamartomas of iris)
* tumor on the optic nerve, also known as an Optic Glioma.

Neurofibromatosis type 2 - mutation of merlin chromosome 22q12. It is a genetic disorder that causes tumors to form on the nerves of the brain and spine (the central nervous system). Incidence is 1:40,000.
* 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  (+ info)

do optic nerve tumors cause impairment in vision (neurofibromatosis 1)?


- this information about neurofibromatosis suggests this:
An optic glioma is a tumour on the optic nerve inside the skull. The optic nerve functions to transmit vision to our brains. Because these tumours grow only in children, adults with NF1 do not need to worry about this type of tumour and the visual problems that can be associated with it. An optic glioma diagnosed during childhood rarely progresses during the adult years to cause problems. Individuals who notice a change in their eyesight should consult their ophthalmologists. The most common reason for deterioration in vision in adults result from changes in the eye lens associated with age. This is unrelated to NF1.
Apparently, it has no effect on vision but it would seem obvious that the main nerve to the brain from the eye would have an effect.
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your info says

the visual problems that can be associated with it


so i would guess there is impairment  (+ info)

i have neurofibromatosis but i ain't show if it's type 1 of type 2 does anyone know how 2 find out?


To be given the diagnosis of NF1, an individual must have at least two of the following features. Some people with NF1 have only two, while others can have many of these features:

* Six or more café-au-lait spots over 5 mm in prepuberal patients and over 15 mm after puberty.

* Two or more neurofibromas of any type or one plexiform neurofibroma

* Freckling in axillary or inguinal regions.

* Optic pathway tumour

* Two or more Lisch nodules

* A distinctive osseous lesion such as sphenoid wing dysplasia or thinning of the cortex of the long bones.

*A first-degree relative with NF1 by the above criteria.

* Also, over 50% of patients with NF1 have academic learning disabilities, making early diagnosis of the disease and intervention even more crucial.

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But you'll need to speak to your specialist to find out more information.  (+ info)

does anyone else have neurofibromatosis type one (N.F type 1) if so what symptoms do you have?


i have it and would like to find out how other people cope with it
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I have it, and you just have iggy people that make fun of you because of it. Remember what goes around comes around!  (+ info)

I have Neurofibromatosis 1 .. I was wondering if anyone having nf1 had problems with there feet ..?


And had hearing problems.. I have hearing loss and problems with my feet.. I found out that i had nf in 1976.. I have the spinal fluid in a sack that (was) eating away at my spine until the drs. put a shunt in my back to drain the liquid from it.. does anyone else have this, Also does anyone else have neuromas?
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Well I have NF1 And I have bumps on the bottom of my feet, Once in a while an new one will start then callous cover it , it hurts for a while but I'm use th this kind of pain it gives Me ,
I have Tinnitus (Ringing in the ears) Have had for some time Al tho I'm thinking its from grinding My teeth when I sleep, I have many tumors all over my Body None have been found in side that causes trouble as of yet, i do have a Plexiform on My right arm, ...If you wish to contact me my e-mail is [email protected]  (+ info)

does neurofibromatosis (NF) is NF-1 affect height and weight. ?


Yes- height definitely. Neurofibromatosis type 1 (NF1) can lead to:

1. Congenital pseudarthrosis of the tibia (CPT)
2. Scoliosis
3. Sphenoid wing dysplasia

Add to this recent studies have indicated a marked presence of osteoporosis or osteopenia associated with NF-1.

Weight- I'm not sure about.

For more information, please see the article: "Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1) ."

Bone , Volume 42 , Issue 4 , Pages 616 - 622

A . Schindeler , D . Little

#Available online through Elsevier- http://linkinghub.elsevier.com/retrieve/pii/S8756328207008587  (+ info)

neurofibromatosis type 1?


im going to join the marines..i have it i know its a "diqualification" WAIVERS.can i get one.info"i can get a letter from my specialist stating IAM IN PERFECT HEALTH, and MRI ...what is my chance
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Well even if you could find a Specialist that would be willing to lose their license, you'd be joining the Marines under false pretenses and they don't take kindly to that.

Neurofibromatosis usually displays café-au-lait spots on the skin and benign tumors just under the skin. Kind of hard to hide those symptoms from the Doctors who will examine you before allowing you into the Service.  (+ info)

i have Neurofibromatosis type 1?


im 20 years old and i wanted to join the military but they said its to much of a health rick to allow me to join. i don't understand when i've been healthy all my life with no problems
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I have it too, type 1. I'm for the msot part okay, but do have some limitation that would prevent me from joining the military. I've had two surgies to remove tumors. A couple on my arm and then two were crushing agaisnt my spine. I've had a ton of MRI's and I see my neurofibromatosis about every six months to a year.

It different for everyone, but I did here there was some kind of law or code or whatever in the military that prevent people with this condition from joining the miliatary. I don't know the reason, you would have to ask them. The only thing I do know is neurofibromatosis, can get worse as the years go by, more tumor can come and the ones already there can grow in size, that's what happens to me.

I have a large mass on my leg, which causes me to walk with a limp at time and then I also have tremors. But if you have type one, there a very low cancer rate, now with type 2 that's another story.  (+ info)

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