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Doctor insights on: Multiple Neurofibromatosis

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What are types of neurofibromatosis besides acoustic neurofibromatosis?

What are types of neurofibromatosis besides acoustic neurofibromatosis?

3 major types: (nf 1 consists of two or more neurofibromas on or under the skin, or one plexiform neurofibroma, café au lait spots (pigmented, light brown macules, freckles of armpit and groin, lisch nodules (hamartomas of iris), optic nerve gliomas and skeletal deformities. Nf2 centrla nf with bilateral acoustic neuromas(balance, hearing, ringing ears) .Nf3 schwannomas develop cranial, spinal and peripheral nerves. ...Read more

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Dr. Gerald Mandell
168 doctors shared insights

Neurofibromatosis (Definition)

A condition that causes tumors to form in the brain, ...Read more


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Is multiple sclerosis hereditary?

Is multiple sclerosis hereditary?

Complex: Multiple sclerosis is an issue of genetic susceptibility, not the usual heredity, and risk runs about 3-5% if mother has it, 1-2% if father has it. But without specific environmental triggers, the disease will be unlikely to manifest. ...Read more

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Is multiple myeloma genetic?

Is multiple myeloma genetic?

Yes/No: In a sense all cancer is "genetic" involving changes to the DNA or epi-genetic - changes to DNA modifiers such as methylation. A related question is is multiple myeloma inherited. The answer is sometimes. The risk is about double with a family history. Here is one clinical trial studying this: https://clinicaltrials.gov/ct2/show/NCT00582621 ...Read more

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Is multiple myeloma hereditary?

Is multiple myeloma hereditary?

Rarely: There are a few families where it appears hereditary. Having said this, there are families where more than one individual has the disease and the thought is that this may be due to an environmental cause. ...Read more

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Who discovered multiple sclerosis?

Who discovered multiple sclerosis?

Charcot: The French neurologist Charcot is credited with identifying MS as a distinct entity for the first time. ...Read more

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Multiple sclerosis = demyelination?

Multiple sclerosis = demyelination?

Characteristic: Demyelination refers to damage to the coverings of the nerves in the brain and spinal cord, and is very characteristic of the inflammatory process that occurs in ms. This can also occur in children with hereditary leukodystrophies, and can be associated with acquired neurological disorders. The disease modifying drugs in MS are designed to control demyelination and many work well. ...Read more

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Are there multiple types of achondroplasia?

Are there multiple types of achondroplasia?

Fetaure variations: About 90% represent new mutations but in those studied in great detail, all have the same base pair substitution in the gene. The gene regulating a fibroblast growth factor on chromosome 4 is the issue involved. There is some variation in the features of every case as there would be in people with no mutation. ...Read more

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Relationship between ehlers danlos sysndrome and multiple myeloma?

Doubtful connection: I am unaware of any direct connection between these two conditions. ...Read more

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Optic neuritis (nmo) or multiple sclerosis (ms)? What are the different victims?

Optic neuritis (nmo) or multiple sclerosis (ms)? What are the different victims?

Say what???: This question is confusing! optic neuritis (abbreviated on) is one of many symptoms of ms and results from inflammation in one or both optic nerves. It is one of the most common symptoms of ms and typically causes eye pain and decreased vision in one eye. It does not typically cause complete blindness. Multiple sclerosis (ms) is an autoimmune disorder of the center nervous system. See below. ...Read more

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Is amyotrophic lateral sclerosis a type of multiple sclerosis (ms)?

Is amyotrophic lateral sclerosis a type of multiple sclerosis (ms)?

Not similar diseases: Als is very different, and is a disease of "mis-folded proteins" like alzheimers and parkinson's, and all of these affect older people. Ms is an autoimmune disease afflicting younger patients who have hereditary susceptibilities and environmental exposures. Ms can be successfully treated and controlled, but ALS does not respond well to current therapies. ...Read more

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Is multiple sclerosis a hereditary condition?

Is multiple sclerosis a hereditary condition?

In part: Hereditary risk is one factor, but the interplay between genetic background and environment is likely in this disease. Identical twins studies show about a 30% risk for MS if one twin has the disease (certainly not 100%). Population studies show certain ancestry may increase or decrease risk (e.g. Northern european ancestry high, whereas asian, african, aboriginal very low). ...Read more

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Are multiple sclerosis and myasthenia gravis conditions of the neuroglia?

Are multiple sclerosis and myasthenia gravis conditions of the neuroglia?

Neither of them: Neither of these conditions is a condition of the neuroglia. To some extent, glial cells are involved in the repair of damage that occurs in MS. Myasthenia is a condition that occurs at the junction of the nerve and muscle, no glia cells are present there. ...Read more

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Are there multiple types of hemophilia?

Are there multiple types of hemophilia?

Yes: There are many congenital factor deficiencies. The ones that are called hemophilia are known as a, b, and c. These are due to the loss of factors viii, ix, and xi respectively. ...Read more

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Are teratoma tumors genetic?

Are teratoma tumors genetic?

Some are: Teratomas arise from cells that can differentiate in to a host of tissue types and can be associated with chromosomal (genetic) abnormalities or with inherited syndromes. However, vast majority are sporadic and will not be passed on to the kids. ...Read more

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Is multiple sclerosis fatal?

Is multiple sclerosis fatal?

Not usually: Ms is a chronic neurological condition, characterized by episodes of neurological disability of variable severity and recovery. A minority of inidividuals can have a very aggressive course, and become so disabled that they are at risk of secondary medical complications which may be fatal. There are subtypes of MS which are so aggressive that a fatal outcome can happen. Fortunately these are rare. ...Read more

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Are myelofibrosis and multiple myeloma are related to each other?

Are myelofibrosis  and  multiple myeloma are related to each other?

No: They are totally different diseases. Myeloma is a malignancy that develops in a type of blood cell called a plasma cell. Myelofibrosis is a disease of the bone marrow microenvironment. ...Read more

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What are neuropsychiatric problems associated with multiple sclerosis ?

What are neuropsychiatric problems associated with multiple sclerosis ?

Significant at times: Main issue is evolution of progressive cognitive loss, which likely is present in at least 60% and creates an early disability. Lack of emotional control, such as crying or laughing without reason, or more persistent euphoria or depression gets even more challenging. Although delusions and hallucinations may be rarely seen, usually not an issue. ...Read more

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What symptoms of ms multiple sclerosis ?

What symptoms of ms multiple sclerosis ?

Variable: Please consult this site for information on early symptoms of MS http://www.webmd.com/multiple-sclerosis/guide/multiple-sclerosis-symptoms Wish you good health. ...Read more

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How many people have multiple sclerosis?

200 cases each WK: It is estimated approximately 250, 000. To 350, 000. People are affected in usa and 200 cases are diagnosed each week. ...Read more

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Help! Is it possible to have a lot of cafe au lait spots and not have neurofibromatosis?

Help! Is it possible to have a lot of cafe au lait spots and not have neurofibromatosis?

Possible: NIH diagnostic criteria for NF1 with two or more of following features:1)6 or more café-au-lait macules over 5 mm in diameter prepubertal individuals over 15 mm in greatest diameter in postpubertal..2) 2or more neurofibromas or one plexiform neurofibroma.3)Freckling in armpit or groin areas4)Optic glioma (optic nerve tumor)5) > 2 Lisch nodules(iris of eye)6)typical bone lesions 7)1deg relative nf1 ...Read more

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I'm scared I might have neurofibromatosis, what symptoms should I be wary of?

Cafe Au Lait spots: Which look like this: http://www.Sciencephoto.Com/media/259913/enlarge . Also, the spot must appear, that is, not be there from birth (that would be a birthmark). ...Read more

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What is neurofibromatosis?

What is neurofibromatosis?

Nerve ; brain tumors: Neurofibromatosis, inherited problem, with varying degrees of involvement from mild to severe. Neurofibroma is benign tumor that originates from the nerve cells.Tumors usually arise from nerves in the skin or jut under the skin.Type 1 usually appears in children with brown flat skin spots, freckling in armpits, and soft tumors under the skin and sometimes bone deformity.Type 2 usually brain tumors. ...Read more

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Could anybody get neurofibromatosis?

Congenital condition: Neurofibromatosis is an autosomal dominant genetic disease, meaning if one of your parents has the disease you have a 50% chance of inheriting the disease. There are also instances of spontaneous mutation in about half of cases where an individual has the disease but it is not seen in family members. Either way, you are born with the condition, but may not see symptoms until later. ...Read more

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Is neurofibromatosis a rare disease?

Is neurofibromatosis a rare disease?

Define rare: At 1/4000 births this is relatively common compared to many genetically influenced afflictions. About a 3rd are new mutations and the others are passed from an affected parent to half their offspring. ...Read more

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What are the tests for neurofibromatosis?

Clinical diagnosis: The best test for neutofibromatosis is a physical examination by a practitioner familiar with the nih criteria. ...Read more

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What is the history of neurofibromatosis?

Long history: von Recklinghausen's (NF1) has pictorial history, dating back to thirteenth century.In 1768, Akenside published a scientifically-based description of NF1, recognizing that scholars such as Parè and Aldrovandi, in fact suffered from a disorder of the nerves.Neuromas of NF1 were first detailed by Smith in 1849, but Frederick von Recklinghausen is credited with its discovery and coined the name. ...Read more

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Please help me? What is neurofibromatosis?

Neurofibromatosis: Neurofibromatosis or nf is an inherited disorder or one that occur spontaneously in a patient. It is a disorder that involves the nerves, structures that carry information from the brain to outlying parts of our bodies. In nf there are tumors, which in most cases are benign that arise from these nerves. The disease is extremely variable in how it affects a patient. ...Read more

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Can neurofibromatosis have a cure someday?

Can neurofibromatosis have a cure someday?

Hopefully Yes: We have learned much about neurofibromatosis (nf) over the years . As our understanding grows our treatments and possibly a cure will come. Our understanding is advancing ever more rapidly in the last few years. ...Read more

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How can I know if I have neurofibromatosis?

How can I know if I have neurofibromatosis?

Many signs: Physician with physical exam can detect many signs of nf.Symptoms of nf1, most common form may be seen at birth and may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor of optic nerve, a larger than normal head circumference, development of subcutaneous nodules or neurofibromas, abnormal spine, tibia, or other bone. ...Read more

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I have neurofibromatosis. What should i do?

Get information: http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm This is website with a lot of accurate information, ...Read more

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My friend has neurofibromatosis. What is that?

My friend has neurofibromatosis. What is that?

NF resource: Here is a great resource where you can find lots of answers about neurofibromatosis: http://www.nfnetwork.org/ ...Read more

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What are the main symptoms of neurofibromatosis?

What are the main symptoms of neurofibromatosis?

Many manifestations: Commonly nf gradually appears with development of brown flat spots and soft nodules under the skin. The brown (café-au-lai) spots are the main symptom of neurofibromatosis. Freckling of armpits, neurofibromas orsubcutaneous bumps , which increase in number with age.. Lisch nodules (hamartomas of iris), gliomas of the optic nerve, skeletal dysplasias with limb abnormalities and scoliosis. ...Read more

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What symptoms make you think of neurofibromatosis?

What symptoms make you think of neurofibromatosis?

There are 2 froms.: Nf-1 is characterized by tumors on small nerves under the skin. The worst form of this was depicted in a movie called the "elephant man". Tumors on spinal nerves can cause numness and weakness of certain arm or leg muscles. Nf-2 is characterized by brain tumors. The most common form is a tumor on both hearing nerves. Hearing loss, dizzyness, and ringing in the ear are common symptoms of nf-2. ...Read more

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How can you tell if someone has neurofibromatosis?

What type?: Nf-1 has classic skin manifestations - one just examines skin to see if criteria for the number/size of nevi and ash-leaf spots on the skin are seen. ...Read more

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Can a person with neurofibromatosis type 2 die young?

NF-2: The average life expectancy for someone with NF2 is 65 years of age with appropriate screening and intervention. ...Read more

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When does neurofibromatosis symptoms start to develop?

When does neurofibromatosis symptoms start to develop?

Sometimes at birth: Several signs of nf, the main one six or more flat brown spots over 5 mm in greatest diameter in children and over 15 mm in greatest diameter in post-pubertal individuals, two or more soft nodules or neurofibromas or 1 plexiform neurofibroma, freckling in the axillary or groin regions, tumors of optic nerve, gliomas, bony abnormality such as scoliosis, bone overgrowth or congenital fracture. ...Read more

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What is wrong with people who have neurofibromatosis ?

Uncontrolled growth: Patients with neurofibromatosis have uncontrollable growth of certain nerve cells. These masses, called fibromas, lead to multiple complications including epilepsy. ...Read more

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