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.
ACH, is an interesting disease, one that after many years of research still remains a partial mystery. The fact that a single nucleotide on one chromosome can so greatly affect an individual is astounding, especially coupled with the fact that this mutation is so homogenious in genotype and phenotype. With more skeletal dysplasias being connected to FGFR3, research has increased to fully determine and define the pathways involved with this gene. Determining the reason for such a high mutation frequency and the link to paternal age are also being looked into. Once there is more understanding of how this mutation affects the body, treatments and possibly cures can be found for these individuals.
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
The MECP2 gene makes a protein, also called MECP2, believed to play a pivotal role in silencing, turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally(Rett Syndrome - NORD). Rett syndrome is a genetic disorder of developmental failure of brain maturation. This is thought to occur when subsets of neurons and their connections are disrupted during a dynamic phase of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the critical phases of synapse development. How mutations in MeCP2 lead to Retts is not well understood but is the focus of intense research.
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.).
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
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...
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.
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.
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.
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