Neuroofibromatosis Research Papers

Approximately one-third of the females with Fragile X Syndrome have a substantial learning disability, the other two-thirds have mild to moderate intellectual disabilities. This two-thirds may also experience issues related to their mental/emotional health as well as social and/or general anxiety disorders. Although rare, there are some females whose FMR1 Gene, which is the gene responsible for causing FXS, fully mutates; thus, eliminating any apparent signs of Fragile X Syndrome. These females usually remain undiagnosed until another family member is diagnosed with the syndrome.

This condition is diagnosed with a physical exam and medical history. Sometimes X-rays are also done.

This disease is mostly an occurrence with Caucasians from Europe descent. The mutation happens in chromosome 7 in a gene called CFTR, this is a disease that starts with birth and goes until death. Cystic Fibrosis mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. Due to males being infertile and women having trouble getting pregnant, Cystic Fibrosis is much less spread. Unfortunately there is no true cure with this genetic disease, there are only treatments to prolong the life of one and also reduce the pain throughout the patient’s life, while these treatments are hard and time-consuming the treatments have work as shown by the life span of people with Cystic Fibrosis has been increasing ever

Cystic fibrosis, a genetic disorder, is currently affecting more than 30,000 people in the United States (About). According to “What is a Genetic Disorder?” (2014) “A genetic disorder is a disease that is caused by a change, or mutation, in an individual’s DNA sequence.” Cystic Fibrosis is an uncommon but serious disorder that causes consistent lung infections and limits the ability to breathe overtime. It affects the exocrine glands, which play a crucial role in regulating body temperature by producing sweat and many substances. It causes unusual heavy mucus, leading to blockage in the pancreatic ducts, intestines, bronchi, resulting in respiratory infection (About). Cystic fibrosis affects many people, and it has a specific mode of inheritance,

This lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,

Surviving this condition is quite a remarkable feat, although these people are especially prone to the resurfacing of the disease. In 2008, it was recorded that 12 million lives around the world have been affected by a medical history involving this disease.

Cystic Fibrosis is a recessive disorder that is a life threatening disease that causes persistent lung infections and progressively limits the ability to breath. Unfortunately, there is no cure for this genetic disorder, but Airway Clearance, Inhaled Medicines, and Pancreatic enzyme supplements can increase the person’s lifespan incredibly. There are about 70,000 people worldwide with this disease. Approximately 1,000 new cases of cystic fibrosis are diagnosed each year. The average human with cystic fibrosis lives to about 30 if they take their medicine.

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.

My disorder research paper is about neurofibromatosis, which is a genetically-inherited disorder in which the nerve tissue grows tumors that may cause serious damage by compressing nerves and other tissues. The disorder affects all neural cells such as the Schwann cells and melanocytes. The melanocytes function abnormally in this disease, resulting to disordered skin pigmentation. The tumors would be able to cause bumps under the skin, colored spots, skeletal problems, and other neurological problems. Neurofibromatosis is also an autosomal dominant disorder, which means that only one copy of the affected gene is needed for the disorder to develop. In this case if there were only one parent who has neurofibromatosis,

A defective gene can be inherited by a parent or suddenly change for no reason. Neurofibromatosis type 1’s defective gene can be found on chromosome number 17. Neurofibromatosis type 2’s defective gene can be found on chromosome number 22. Type 1 neurofibromatosis occurs in about 1 in 2,500 to 3,000 individuals in the population (Haynes,2011). Birthmarks, freckles, and skin lumps are the main sign of neurofibromatosis, but if an individual has two or more signs a diagnosis will be made. If a physician suspects Neurofibromatosis type 2 they will refer the patient to a specialist for test. A diagnosis can be made for Neurofibromatosis type 2 if there is an acoustic neuroma in one ear and other symptoms, a CT scan or MRI, and a blood sample. Family history is also a factor in the

There are many things that can cause a disease. Marfan syndrome is caused by a mutation in the fibrillin-1 gene. The gene produces a protein that is essential for formatting the elastic fibers found in connective tissue. About 75 percent of people with Marfan syndrome inherit the mutation from one affected parent. A parent who has

Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves, and skin. There have been two types of neurofibromatosis classified. Type one is more common and is formerly known as von Recklinghausen's neurofibromatosis. Symptoms for type one include: café-au-lait, two or more neurofibromas,manifestation of freckles, lisch nodules, optic glioma, scoliosis, or enlargement or malformation of other bones in the skeletal system. Café-au-lait is the presence of light brown spots on the skin. Neurofibromas are pea-sized bumps that grow on nerve tissue or under the skin. Lisch nodules are tiny tan clumps of pigment in the iris of the eyes. Optic glioma are tumors that are along the optic nerve of the eye. Scoliosis is the severe curvature of the spine.

One of the first cases of NF can date back to the 13th century and the 18th century- even before it got its official name of NF. In 1785, there was a man reported to have been nicknamed “The Wart Man” he also had been reported to have many of the symptoms of Neurofibromatosis type 1. NF had a famous face at one point, noted as “Elephant Man’s Disease” John Merrick, who had many conditions, but experts said he was more likely to have Proteus syndrome, and people still get the two conditions confused, causing a stigma for people who suffer from NF and asking people “why don’t you look like the elephant man?”. When people call NF the “Elephant Man’s Disease” many people within the community get very defensive and will sternly tell you that it is not the same thing, and will

Treatment options include contact lenses, lens implantation, eye magnifiers, and laser eyes surgery. This condition cannot be cured as it is genetic, but apart from more damage caused by UV exposure, it does not have a mortality rate.

This lack of protein is caused by a mutation in the gene which is where the mentioned variations of the disorder come in. The first type is autosomal dominant where the gene is taken from only one parent. There is then autosomal recessive where the gene is taken from both parents. However these are not the only types. A protein called keratin can be affected by a mutated gene from one parent creating the symptoms of the disease in a type called epidermolysis simplex. The same can happen when inherited from two parents in which they label junctional epidermolysis. The debate and misconception comes with the idea that this is not only a genetic disorder, but an immune disorder a well. This creates a controversy over whether it is preventable; however, it is luck of the draw when it comes to the one we are focusing on today, the genetic type. Often people that carry the gene resist the want to have offspring simply because they know the risks and effects of the crippling disease. We previously talked about the most common and broad symptom which is used crossed the board to determine the disorder, the peeling of the outermost layer of skin at the slightest touch, however, there are other and more fatal symptoms that many fail to consider.