Neurofibromatosis Type 1 - What it is, Causes and Treatmentsthat we should all know. In additionType 1 Neurofibromatosisis the general name for a number of genetic conditions that cause tumors to grow along their nerves. Tumors are swellings formed by a growth of cells. In neurofibromatosis, tumors are usually not carcinogenic (benign).
Type 1 Neurofibromatosisis the most common type, affecting about one in , 00 births. THENeurofibromatosistype 2(NF2), which is much less common, has different symptoms and is caused by changes in different genes, so it is covered separately. So check it out nowNeurofibromatosis Type 1 - What it is, Causes and Treatments:
Causes of Neurofibromatosis Type 1:Type 1 Neurofibromatosisis caused by a genetic mutation in a gene calledType 1 Neurofibromatosis. Genes are the instructions used to produce all human characteristics. A genetic mutation is a permanent change in the DNA sequence that makes up a gene. Normally, the geneType 1 Neurofibromatosisis responsible for the production of a protein that helps regulate nerve tissue growth. The protein "shuts off" tissue growth once it has reached a certain size.
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In someone withType 1 Neurofibromatosis, this gene is defective. This leads cells to produce an incomplete protein that is much less effective at growth, leading to uncontrolled growth (tumors) in the development of nervous. The defective gene that causesType 1 Neurofibromatosisis found on chromosome number 17.
Symptoms of Neurofibromatosis Type 1:.
Colorful stains:The most common symptom ofType 1 Neurofibromatosisis the appearance of coffee-colored stains without pain in the skin, known as coffee-with-milk stains. They affect 95% of people withType 1 Neurofibromatosis. Stains may be present at birth or develop when a child is three years old.
During childhood, the majority of children withType 1 Neurofibromatosiswill have at least six milky coffee stains around 5m in diameter. These grow to around 15m during adulthood. The number of milk coffee stains someone has is not related to the severity of the condition.
For example, a person with 10 points has the same chance of developing new problems as someone with 100 points. Having a couple of coffee grounds with milk does not necessarily mean that you haveType 1 Neurofibromatosis. About one in 10 people without the condition has one or two of these blemishes..
Treatment of Neurofibromatosis Type 1:Someone withType 1 Neurofibromatosisyou will need regular monitoring and any problem dealing with a team of health professionals. If you develop complex problems, you will usually be referred to one of two specialized NHS centers for a treatment plan to be developed. These are:
Monitoring:Most children withType 1 Neurofibromatosisit is recommended to take a comprehensive exam each year. This may include:
- A detailed examination of your skin to check for new neurofibromas (bumps on or under the skin) or changes in existing:
- A vision test and an examination of both eyes:
- A bone evaluation to check for problems such as scoliosis (abnormal curvature of the spine) or poorly healed bone fractures:
- A measure of blood pressure:
- Measuring your child's physical development:
- Assessing your child's progress in school - skills in activities such as reading, writing, problem solving, and understanding:
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As a child ages, they should be seen once a year. Over time, they will learn to monitor their own health so they know when to seek help. However, they may need more evaluations if they develop complex health needs..
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