Neurofibromatosis
Introduction
Neurofibromatosis is a genetic disorder that causes tumors to form in the brain, spinal cord, and nerves. There are 3 types of this disorder. Type 1 usually appears in childhood, while type 2 and 3 appear in early adulthood. Type 3 can cause chronic pain throughout the body. Some cases may not require treatment other than careful observation. Other cases may require chemotherapy, radiation therapy, or surgery. In this essay i will explain the causes of the disorder, symptoms, treatment, and a day in the life of that person
Causes of the Disorder Neurofibromatosis type one or NF1 is caused by a genetic mutation. A genetic mutation is a permanent change in the DNA sequence that makes up a gene. In half of the cases where people
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One of them are non cancerous tumors under the skin, or they may be located deeper within the body. There can also be tiny bumps in the iris of your eye, the iris is the colored part of the eye. Impaired thinking skills are common in kids with NF1. Short stature, this means children with NF1 are below average height.
Treatments, Prevention, Cure (or possibility of) No cure exists for any type of NF. Instead treatment focuses on managing symptoms. There are some cases where NF1 and NF2 tumors become cancerous and this is where radiation therapy or surgery is needed. This is often complicated as the tumors in NF2 are really close to the brain or spinal cord. Also after surgery the tumors may recur. In the case of NF1 surgery may help correct bone deformities.
A day in the life It is hard to be a person with a genetic disease that has no cure. And it must be hard living with that everyday. For people with neurofibromatosis being judged by their appearances is common. We take for granted a lot of things but there are some people that don't have what we do.
WKRC reports Monika Burgett who's son does have neurofibromatosis, the genetic disorder causing tumors to form on nerve tissue, but allegedly turned it into a full blown illness that he wasn't suffering from from, claiming he was in pain, he couldn't eat, and needed more oxygen to breathe after being treated in Houston and Austin.
When you see someone suffering from a disability or some type of disease you might not always think it will happen to you. No matter what the disease or disability is, it’s always going to be an inconvenience for the person that has the condition. Some people are out in the open about their disease, while other are quiet and in the dark about it. I believe that even though people have these issues in their life, they should embrace it and continue to be who they are. They may think why me? Why was I given this burden? Even though this disease may stand in the way of them doing specific things they should come to terms with it and do all the other things that it does let them do.
There is currently no cure for cystic fibrosis. It typically gets worse over time. The good news is that life expectancy has increased over the past 40 years due to better treatments. The treatment that your physician recommends depends on the type of health problems you are experiencing due to your cystic fibrosis. Your physician will also consider how well your body is responding to the treatment. A combination of medication and home treatments
What is Cystic Fibrosis? The name of it can be broken down into medical word
The cause of this condition not known. In some cases it may be caused by genes passed down through families.
When people think about a mutation or a genetic disorder, they often tend to think about fictional like characters such as a half beast half man scenario. However, genetic disorders and mutations are simply just mistakes in the genetic code. These mistakes can be so minor that it has no effect on you whatsoever, or they can be a major problem. Myotonic dystrophy type 1 is one of those genetic mistakes that has a huge impact on the way you live your life. Myotonic dystrophy type 1 is a type of multisystem disorder that cannot be caught, but is genetically inherited. Myotonic dystrophy type 1 has to do with a special gene and chromosomal problem, with very severe, rare symptoms, and it has a major impact on life.
the only way to go into complete remission with this disease is when you undergo high dose radiation followed by a stem cell transplant
Neurofibromatosis is a disorder affecting the chromosomes of the human body. It is a hereditary disorder affecting the nervous system. The term neurofibromatosis actually refers to two different genetic diseases. The most common type is NF 1, and the less common type is NF 2. Both disorders are transmitted in an autosomal dominant fashion. An autosomal dominant disease is a disorder caused by the presence of a single autosomal dominant gene; an abnormal factor located on any chromosome other than the sex chromosome. They are both characterized by occurrences in multiple neurofibromas.
Doctors use the words nonmalignant or malignant, when they describe tumors. In case, anyone should have been done with medical examinations periodically and even if a patient have been detected with nonmalignant tumors, he or she most knows that benign tumors may produce a substantial morbidity and can be occasionally fatal rabidly. Currently, "there is recent findings conclude that patients with brain cancer could present for care with a diversity of indications and
Treatment is very limited for this cancer as many undergo surgical removal, but sixty percent of those patients are devastated with the returning of the disease within six months. Based on this concept even today most patients are left with medical treatment rather than surgery.
Neurofibromatosis is a genetic disorder caused by a gene mutation on chromosomes 17 or 22. Beginning in the nervous system, this disorder can create multiple tumors throughout the body, although for NF1, tumors are mostly located on the spine. But NF2 can also cause tumors to grow on the cranium, which can damage sight or hearing. There is also a third type of neurofibromatosis, but little is known about it.
There is no cure for Marfans. Treatment of Marfans is aimed at controlling symptoms and preventing cardiac injury. Patients may be on a restricted activity level. Treatment of any muscle, back or
The only exception to this is type 4, it is an autosomal dominant pattern. Type 1, 2, and 3 are all associated with children, leaving type 4 has the only type adults have. There is currently no cure for spinal muscular atrophy. The only treatment involves prevention and management of the disease. Researchers do believe that gene replacement may be a possible cure, but that will take many more years of research before they can determine if this will work.
Moving into the explanation of the cause of SMA, it is important to understand the gene that has been deleted (95%-98% of cases) or mutated (2%-5% of cases) and what all it affects. As mentioned in the first paragraph, SMA is a mutation of the SMN1 gene that is responsible for producing SMN (spinal motor neuron) proteins for healthy individuals. However, in those affected by SMA, the SMN proteins aren’t produced which disables the proper functioning of the nerves that control muscles (motor neurons). This inability to properly
It is very hard to diagnose, but once it's detected, there are quite a few treatments that are available. Keep in mind that this all depends on the stage that this disease has reached in your body. Most of the treatments that are available destroy the bad cells, which are the malignant cells, and keep the healthy ones. Surgery, radiation, and chemotherapy