Neurofibromatosis
Neurofibromatosis (NF) is a genetic disorder, which can affect anyone, that is either inherited by the parents or resulting from a chromosomal abnormality during the reproduction process. According to the Children’s Tumor Foundation in their document ‘Frequently Asked Questions About NF’, there are three different types of NF:
1. Neurofibromatosis Type 1 (affects 1 in 3,000 people)
2. Neurofibromatosis Type 2 (affects 1 in 25,000 people)
3. Schwannomatosis (affects 1 in 40,000 or less people)
Neurofibromatosis Type 1 The “symptoms of NF1 vary for each individual”; being this, the various of symptoms can be light brown spots, small bumps (neurofibromas) on nerve tissue or under the skin, “freckles under the armpits or in the
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The symptoms of NF2 includes continuous ringing in the ears or hearing loss, “tumors along the eighth cranial nerve” (the nerve responsible for hearing), “cataracts at a young age”, tumors located in the brain and/or along the spinal cord (causing numbness), balancing problems, or the muscles literally waste away (National Human Genome Research Institute, 2016). When a mutation occurs in the gene NF2, Neurofibromatosis Type 2 takes place. The gene NF2 is the location of a code named merlin, or schwannomin, that’s function is currently unknown but thought to be “involved in controlling cell movement, cell shape, and communication between cells” as well as “insulate nerve cells” (Genetics Home Reference, 2012).
Schwannomatosis
A severe case of NF, in humans over the age of 30, is schwannomatosis, which is when tumors (schwannomas) form on the “nerves throughout the body” (Johns Hopkins University; Johns Hopkins Hospital; Johns Hopkins Health System). This causes severe pain for the sufferer especially depending on the size and location of the tumor(s). Though not completely known because of how recent schwannomatosis’s discovery is, it is though that the loss of the gene INI1, or SMARCB2, to be the culprit of this genetic disorder (Johns Hopkins University; Johns Hopkins Hospital; Johns Hopkins Health System).
Chromosomal
In most cases, fibrodysplasia ossificans progressiva is missed diagnosed. One of the most common missed diagnoses is cancer because of the tumor like knots when the doctors go in to try to remove the “tumor” they cause more damage because flare-ups typically develop after a person experiences trauma to the body, such as a fall, small bump or even a small burse. Also illnesses, such as the flu may also trigger flare-ups. In one case of FOP they did so much damage that they had to remove the patience arm. Experts estimate that the rate of misdiagnosis of FOP may be 80% or higher.
These recurrent nodules and abscesses not only cause pain, but self-consciousness, social isolation and even depression. Other less common complications include severe infections, restricted movement caused by a buildup of fibrosis and a type of skin cancer called squamous cell carcinoma.
Spina Bifida is the most common permanently disabling birth defect in the United States. It is a birth defect in which a developing baby's spinal cord fails to develop properly. The term Spina bifida comes from Latin and means "split" or "open" spine. This disorder occurs when the fetus is growing in the womb and its spine doesn’t form correctly. Some of the vertebrae don’t close to make their normal ring shapes around the spinal cord. This defect happens at the end of the first month of pregnancy, when a baby's spine and spinal cord are developing. Causes of Spina Bifida Causes that cause this disorder are low levels of the vitamin folic acid during pregnancy. Not having enough folic acid in the diet before and during early pregnancy can increase a woman's risk of Spina bifida and possibility of other neural tube defects. A high fever during pregnancy may increase a woman's chance of having a baby with Spina bifida. Some evidence suggests that genes may be a cause of Spina Bifida, but most babies born with Spina bifida have no family history of the condition. Also, women with epilepsy
Marfan syndrome is a Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means that females and males are equally affected and that only one gene, “abnormal” gene is needed from either parent to be inherited in. Fibrillin 1 basically affects the elasticity of connective tissue. The gene makes many fibrillin proteins and these fibrillin proteins then join together to form a long, and string like object called microfibrils.
Canavan Disease is a fatal neurological disease where there is significant damage to the nerve cells in the brain. There is a defect in the myelin sheath that causes many problems for the nervous system. The major problem is caused when the enzyme aspartoacyle is not present. This missing enzyme causes a chemical imbalance that causes this defect in the myelin sheath. The myelin in the brain destructs which makes it a spongy tissue. This causes overall muscle weakening and slower movements, leading to severe mental retardation. A recent study has shown that the cells in the brain that are responsible for making myelin sheaths (oligodendrocytes), cannot complete the task. When babies are born they may not show any signs at all until the first few months. This disease is only inherited and categorized under a group of diseases called leukodystrophies. Leukodystrophies gets its name because it means there is a degeneration of myelin, which is a fatty cushioning that shields nerve fibers. This makes the nerve signals very difficult to transmit. People with Canavan Disease life span can range from a couple days, months, or maybe even until their twenties (Genetics Home Reference, n.d.); (Canavan Foundation, n.d.).
A. NF is caused by a mutation in the NF1 gene, which creates the protein neurofibromin.
Neurofibromatosis is caused by the loss of function mutation in the Nf1 gene. Nf1 encodes neurofibromin, a protein with a Ras GTPase activating domain. Neurofibromin is critical for the regulation of proliferation and differentiation of progenitor cells. It has bee...
According to the Encyclopædia Britannica (2014), a neural tube defect is “any congenital defect of the brain and spinal cord as a result of abnormal development of the neural tube.” This birth defect is “the most common congenital defect of the central nervous system, affecting the brain and/or spinal cord of 300,000 newborns worldwide each year” (Ricks et al., 2012, p. 391). The exact cause of these central nervous system defects is unknown, but there are many contributing factors that are evidenced to assist in the prevention of such a disorder. I will examine the varying types of neural tube defect, populations in which this defect is most prevalent, possible causes of the defect, and how this defect affects the healthcare system.
The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in neurons of the brain and spinal cord, which results in the damaging symptoms of the disease.
Patients whose lesion is in the Cerebrum & Cerebellum will experience loss of balance and coordination, difficulty speaking, and frequent limb trembles. Speech difficulties vary from slurred words, long pause between words, and swallowing problems. Patients whose lesion is in the Motor nerve tracts will experience weakened and stiffened muscles, blurred vision or vision impaired, and urinary problems. Weakened and stiffened muscles causes walking disabilities and painful feeling of muscle spasms in 6 to 10 people. Patients whose lesion is in the Sensory nerve tract will experience sensory alternations, fatigue, cognitive and emotional dysfunction, and loss of sexual interest. Difference sensations experienced are numbness, itching, burning, stabbing, or tearing pains.
Most cases of Parkinson’s disease result from a combination of genetic and environmental factors, which several have not been identified. The National Institute of Neurological Disorders and Stroke (NINDS has published several informational papers on Parkinson’s disease that can be found at http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm. More than a dozen genes have been identified to influence the risk of developing the disease if they are altered. Genes found in the Parkinson disease gene family have a variety of functions in the brain, as well as other active in other organs and tissues. The survivals of particular nerve c...
Therefore, NFS is inherited as an “autosomal recessive trait” which means that there are 2 copies of the mutation, which are required to produce a positive offspring.
The first sign of melanoma is often a change in the size, shape, or color of an existing mole or the appearance of a new mole. Men most commonly develop melanoma on the trunk, particularly the back, and women on the legs or arms. Melanoma develops in a manner similar to other cancer types. A cell's DNA genes, which control cell division and reproduction, become damaged. The damaged genes cause the cell to divide and grow without control or order, eventually becoming a malignant tumor.
In Jan Tecklin’s book, Pediatric Physical Therapy, he states that “spina bifida is the second most common birth defect after Down syndrome” (163). Spina bifida includes any birth defect where the spinal canal is not completely closed. It is considered to be a neural tube defect or an NTD. The
Neurology is the medical specialty concerned with the diagnosis and treatment of disorders of the nervous system, which includes the spinal cord, the brain, and the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all affected tissues, such as muscles. A doctor who practices with Neurology is called Neurologist. The neurologist is a medical doctor who specializes in treating diseases that affect the human nervous system. A neurologist is a doctor who is highly trained in recognizing the early symptoms of nerve dysfunction, establishing its cause, the exact location of the problem and its potential treatment. The education requirements of neurologist include earning a bachelor’s degree