Neurofibromatosis causes - Search
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  1. Neurofibromatosis - Causes

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    • Neurofibromatosis is caused by genetic mutations that are either inherited or are acquired spontaneously.
    • The disease follows an autosomal dominant pattern of inheritance which means that a child can be affected even if one defective gene is inherited.
    • Mutations (defects) in NF1 gene result in abnormal/no neurofibromin protein which causes NF1. defects in NF2 gene cause abnormality in/loss of protein called merlin leading to NF2 disease. Both these proteins have a role in cell growth regulation.
    • The risk factors include:
    • Family history

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    Complications

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    Complications of NF1

    • Neurological Problems
    • Skeletal Problems
    • Vision Problems
    • Cardiovascular Problems
    • Hypertension
    • Short stature
    • Large head
    • Breathing Problems
    • Cancer
    • Benign adrenal gland tumor

    Complications of NF2

    • Partial or total deafness
    • Facial nerve damage
    • Vision problems
    • Small benign skin tumors
    • Weakness or numbness in the extremities
    • Multiple benign tumors or spinal tumors

    Complications of Schwannomatosis

    • Debilitating pain requiring surgical treatment

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    Symptoms

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    Seek immediate medical attention if you experience symptoms.

    Symptoms differ in all the three types of Neurofibromatoses.

    Symptoms for NF1 (These are found in childhood)

    • Presence of flat, light brown spots on The skin
    • Freckling in armpits or groin area
    • Tiny bumps on The iris of eye
    • Soft bumps on or under the skin
    • Bone deformities
    • Tumor on optic nerve
    • Learning disabilities
    • Head size larger than average
    • Short Stature

    Symptoms for NF2 (These are found in teenage)

    • Gradual hearing loss
    • Ringing in The ears
    • Poor balance
    • Head aches
    • Numbness and weakness in arms or legs
    • Facial drop
    • Vision problems
    • Symptoms for Schwannomatosis
    • Chronic pain anywhere in the body
    • Numbness or weakness in various parts of body
    • Loss of Muscle

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    Can neurofibromatosis be inherited from parents?
    The main risk factor for neurofibromatosis is a family history of the disorder. Parents pass on genetic mutations to children. A child of a parent who has NF1 or NF2 has a 50% chance of inheriting the genetic mutation. The risk of inheriting schwannomatosis from a parent who carries the mutation is lower.
    nyp.org

    Diagnosis

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    One or more of these tests may be recommended by your medical provider.
    Diagnosis involves examination of symptoms and detailed information about family history.

    Common tests & procedures

    X-ray: X-ray of bone is taken to detect bone abnormalities or tumors in the brain.

    CT scan: Identify bone abnormalities, tumors in the brain or spinal cord.

    Magnetic resonance imaging (MRI): To detect bone abnormalities, tumors in the brain or spinal cord. MRI provides more details than X-Ray or CT Scan.

    Genetic test: To get the detailed information about NF1 and NF2 genes.

    Biopsy: To check if it is cancerous.

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    Treatment

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    The condition cannot be cured, but symptoms can be reduced with the following treatments. It includes surgery, chemotherapy and radiation to cure or remove cancerous tumors.

    Medication

    Anticonvulsants: Have nerve-calming qualities that help relieve nerve pain.

    Gabapentin . Pregabalin . Topiramate . Carbamazepine

    Tricyclic antidepressants: Help in treating neuropathic pain.

    Amitriptyline

    Serotonin and norepinephrine reuptake inhibitors (SNRIs): Are a class of anti-depressant drugs. Some drugs, however, are used to treat nerve pain.

    Duloxetine . Tramadol

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    Source: Focus Medica. For informational purposes only. Consult a medical professional for advice. | Disclaimer: Opinions are from external health professionals and should not be considered as Microsoft's opinion or a substitute for professional help. Consult a health professional for medical advice.
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    Table of Contents
    Causes
    Complications
    Symptoms
    Can neurofibromatosis be inherited from parents?
    Diagnosis
    Health guide
    Treatment
     

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  2. Neurofibromatosis (NF) is caused by genetic mutations that can be inherited from parents or occur spontaneously12345. Here are the main causes:
    • Inherited gene mutations: Many people with NF inherit the gene that causes the condition.
    • Spontaneous genetic mutations: Between 30% and 50% of cases arise from spontaneous mutations.
    • Loss of neurofibromin: In NF1, an altered gene on chromosome 17 causes a loss of neurofibromin, allowing cells to grow uncontrollably.
    Learn more:
    You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.

    Neurofibromatosis | NF | MedlinePlus

    medlineplus.gov/neurofibromatosis.html
    Although many people with NF1 inherit the gene that causes the condition, between 30 and 50 percent of cases arise from a spontaneous genetic mutation in the NF1 gene. Once this mutation has occurred, the abnormal gene can be inherited. Each child of an affected parent has a 50 percent chance of inheriting the gene mutation.

    Neurofibromatosis - National Institute of …

    www.ninds.nih.gov/health-information/disorders/ne…
    Neurofibromatosis is caused by one of three genetic mutations that are either inherited from a parent or that seem to develop randomly in an individual. People with one of these mutations will develop the disorder. There are no steps that can prevent the disease.

    Neurofibromatosis - MD Anderson Canc…

    www.mdanderson.org/cancer-types/neurofibromato…
    Neurofibromatosis type 1 is caused by an altered gene that either is passed down by a parent or occurs at conception. The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate cell growth. When the gene is altered, it causes a loss of neurofibromin. This allows cells to grow without control.

    Neurofibromatosis type 1 - Symptoms a…

    www.mayoclinic.org/diseases-conditions/neurofibro…
    Neurofibromatosis is often inherited (passed on by family members through your genes). But about 50% of people newly diagnosed with the disorder have no family history of the condition. That’s because it can result from a sudden mutation (change) in your genes. Once this change takes place, you can pass the mutant gene on to future generations.

    Neurofibromatosis 1 and 2: Symptoms, …

    www.webmd.com/pain-management/neurofibromat…
     
  3. Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/...

    Neurofibromatosis type 1 - Symptoms and causes - Mayo Clinic

    • Neurofibroma

      Causes. A neurofibroma can arise with no known cause, or it may appear in people …

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  4. Cleveland Clinic
    https://my.clevelandclinic.org/health/diseases/neurofibromatosis

    Neurofibromatosis: What It Is, Symptoms, Types & Treatment

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  5. Johns Hopkins Medicine
    https://www.hopkinsmedicine.org/.../ne…

    Neurofibromatosis - Johns Hopkins Medicine

    Neurofibromatosis is a genetic disorder that causes tumors to form along the peripheral nerves. It has three types: NF1, NF2 and schwannomatosis, each with different symptoms and complications. Learn more about the diagnosis, …

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  6. WebMD
    https://www.webmd.com/.../neurofibro…

    Neurofibromatosis: Types, Symptoms, Causes, and …

    Oct 21, 2024 · Neurofibromatosis is a genetic disorder of the nervous system that causes tumors to form on nerve tissues. Learn about the different types, mutations, and symptoms of neurofibromatosis and how it is diagnosed.

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  7. Wikipedia
    https://en.wikipedia.org/wiki/Neurofibro…

    Neurofibromatosis - Wikipedia

    Neurofibromatosis is a group of genetic conditions that cause tumors to grow in the nervous system. Learn about the different types, mutations, inheritance patterns, and how they affect the skin, hearing, vision, and other functions.

  8. Johns Hopkins Medicine
    https://www.hopkinsmedicine.org/health/conditions...

    Neurofibromatosis Type 1 (NF1) - Johns Hopkins Medicine

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  9. Verywell Health
    https://www.verywellhealth.com/neurofibromatosis-8676334

    Neurofibromatosis: NF1-3 Symptoms and Treatment - Verywell …

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  10. National Human Genome Research Institute | NHGRI
    https://www.genome.gov/Genetic-Disorders/Neurofibromatosis

    About Neurofibromatosis - National Human Genome Research …

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  11. MedlinePlus
    https://medlineplus.gov/neurofibromatosis.html

    Neurofibromatosis | NF - MedlinePlus

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  12. Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/...

    Neurofibromatosis type 1 - Diagnosis and treatment - Mayo Clinic

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  13. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/books/NBK459329

    Neurofibromatosis - StatPearls - NCBI Bookshelf

    Jan 25, 2023 · Etiology. Neurofibromatosis type 1 is caused by a loss of function mutation, either de novo or inherited, on the neurofibromin 1 (NF1) gene. It is located on band 17q11.2 and codes for neurofibromin. Neurofibromin is a …

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  14. Cleveland Clinic
    https://my.clevelandclinic.org/health/diseases/14422

    Neurofibromatosis Type 1 (NF1) - Cleveland Clinic

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  15. NHS
    https://www.nhs.uk/conditions/neurofibromatosis-type-1

    Neurofibromatosis type 1 - NHS

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  16. OrthoInfo
    https://orthoinfo.aaos.org/en/diseases--conditions/neurofibromatosis

    Neurofibromatosis - Types and Treatments - OrthoInfo - AAOS

  17. Healthline
    https://www.healthline.com/health/neurofibromatosis

    Neurofibromatosis 2 (NF2): Symptoms, Treatment, and More

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  18. Medical News Today
    https://www.medicalnewstoday.com/articles/179083

    Neurofibromatosis: Types, causes, and symptoms - Medical …

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  19. NewYork-Presbyterian
    https://www.nyp.org/.../neurofibromatosis

    Neurofibromatosis: Symptoms & Causes - NewYork-Presbyterian

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  20. Johns Hopkins Medicine
    https://www.hopkinsmedicine.org/health/conditions...

    Neurofibromatosis Type 2 (NF2) - Johns Hopkins Medicine

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  21. Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/...

    Neurofibroma - Symptoms and causes - Mayo Clinic

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