neurofibromatosis

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by neurofibromatosis
Last updated 5 years ago

Discipline:
Science
Subject:
Genetics

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neurofibromatosis

What is Neurofibromatosis?

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Neurofibromatosis is a genetic disorder which disturbs cell growth causing neurofibromas (tumors on nerve sheathes) to be found throughout the body and nervous system. Type 1 is characterized by changes in skin colour (patches) and cancerous tumors on nerves, whereas type 2 causes non-cancerous tumors in the nervous system.

-flat, light brown spots on the skin -freckling in the armpits or groin area -neurofibromas -tiny bumps on the iris of your eye -bone deformities -learning disabilities -larger than average head size -short stature

There is no cure for neurofibromatosis. Scientists don’t know how to prevent neurofibromatosis form growing.The goal for treatments for neurofibromatosis only focuses on controlling and relieving symptoms. Headaches and seizures are treated with medications, you can have surgery to remove problematic growths or tumours, treatment which include chemotherapy or radiation if a tumour has turned malignant or cancerous, surgery for bone problems and cataract removal, multiple types of therapy, and the aggressive treatment of associated pain.

MODE OF INHERITANCE Half the people with neurofibromatosis (NF) inherited the disorder from a parent who also has the disorder; NF can be inherited from either the mother or the father to the child. The other half of the people with NF has neither parent with the disorder. These people develop the disorder when one of their NF genes spontaneously mutates before birth; the gene mutates during the production of one of the mother’s eggs and is passed to the child. When one parent has a mutated NF gene, the chance of his/her child inheriting the disorder is 50%.

NEUROFIBROMATOSISBY:Heather, Angela, Fae and Lyven

Usually result from the development of vestibular schwannomas (also known as acoustic neuromas) in both ears, having symptoms such as: -gradual hearing loss -ringing in the ears-poor balance -benign tumors-facial drop -numbness and weakness in the arms or legs-pain

Type 2

SYMPTOMS

KARYOTYPE-a test used to check for chromosome abnormalities

Type 1

TREATMENTS

PUNNETT SQUARE

PEDIGREE


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