Neurofibromatosis
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. The main symptom of these disorders is tumors that form on the ends of nerves throughout the body. NF 1 is most commonly
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There are fewer symptoms for this type than NF1. There are fewer brown spots on the body. This disorder is noted for the frequency of tumors found on the spinal cord and brain. These tumors more often than not cause loss of hearing or a ringing sounds to occur in the ears. The probability of being effected by neurofibromatosis is very surprising. It is actually one of the most common genetic disorders in the United States. The probability of being born with NF1 is 1 in 4000. The probability of being born with NF2 is 1 in 50000. This disorder effects all ethnic races and sexes. Because NF is an autosomal dominant genetic condition you can't get it from other people. Statistics show that only about 50% of those affected with NF have family history of NF. The only way to get NF is from your parents. The parents can only give NF to their offspring if they are also plagued by this disorder. In the past few years there have been huge advancements in treatment for neurofibromatosis. They still haven't found a cure or effective treatment for this disorder. They have deciphered that NF1 effects chromosome 17 and that Nf2 effects chromosome 22. The problem with finding a cure for this disorder is that about ½ of all cases occur due to new mutations of the genes. In 1990 scientists were able to clone the gene of NF1 and then produce its protein, neurofibromin. Once again in 1993 they were able to clone the gene of NF2 and create
Fibromyalgia Syndrome (FMS) is a musculoskeletal illness (which causes chronic pain) and a chronic fatigue disorder. It can also change sleep patterns and cause the following: digestive disorders, chronic headaches, painful menstrual periods, temperature sensitivity, morning stiffness, numbness or tingling of extremities, and even cognitive memory problems. The name fibromyalgia comes from "fibro" in Latin meaning tissue, "my" in Greek meaning muscle, and "algia" (also Greek) meaning pain.(source 5)
There are so many common secondary symptoms that it is not unusual for a patient to be treated by multiple specialists for those symptoms over a period of years before they are diagnosed with FMS. Secondary symptoms need not be present for diagnosis, and will vary from one patient to the next.
Multiple sclerosis, or MS, is a disease of the central nervous system. The central nervous system is made up of the brain and spinal cord. Both have nerve fibers that are wrapped in a myelin sheath. In MS, the myelin sheath becomes inflamed and gradually is destroyed. With the destruction of the myelin sheath comes an array of symptoms that may include numbness or tingling, balance problems, weakness, muscle spasms, and blurred vision.
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.
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
Look around, chances are you or someone in the room either has or knows someone with multiple sclerosis. However, you probably would not be able to tell just by looking at someone if they have MS and that is arguably one of the most frustrating effects of MS. In fact there are a lot of frustrations related to this disease, it affects every patient differently, it is difficult to diagnose, symptoms are merely managed, it is unpredictable and life altering for those with it and for those that care for them. It is estimated that over two and a half million people worldwide are affected by MS. Two hundred new diagnosis are reported every week in the United States alone, and the numbers of cases are likely much higher than
Multiple Sclerosis is an autoimmune disorder where the myelin sheath within the Central Nervous System is attacked (National Multiple Sclerosis Society, 2017). The myelin sheath protects the axon of the nerve cell. When the myelin sheath is intact, the axon is able to carry impulses away from the neuron’s cell body, and the message carried is clear. With Multiple Sclerosis, the myelin sheath becomes scarred, hence the word “sclerosis”, and distorts the nerve impulses traveling over the CNS (National Multiple Sclerosis Society, 2017). This may cause the message to be changed or stopped altogether.
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
Fibromyalgia was initially thought to be a musculoskeletal syndrome since maximum of the pain was felt in the muscles and other soft tissue. However, recent studies and research have shown that fibromyalgia is a central nervous system ailment which causes uncharacteristic pain processing and leads in pain amplification. The three chief symptoms that are common to virtually everybody who struggles with fibromyalgia are pain, tiredness and sleep disorders.
The three neural tube defects detailed in the textbook are spina bifida occulta, meningocele, and myelomeningocele. Of the three defects, myelomeningocele causes the most neurological deficit. It results when the external sac contains meninges, cerebrospinal fluid, and a portion of the spinal cord or its nerve roots. A myelomeningocele frequently results in permanent neurological difficulties, including paralysis, bladder and bowel dysfunction, twisted or abnormal legs and feet, and Chiari malformation. Spina bifida occulta, on the other hand, is the most common neural tube defect but the least severe. It generally will not cause neurological dysfunction, but sometimes associates with foot weakness or bowel and bladder disturbances. Spina bifida
Models such as an experimental autoimmune encephalomyelitis have been created to further understand the components of the brain and spinal cord “Spinal cord a role for dendritic cells in the CNS has been demonstrated in multiple sclerosis (MS), experimental autoimmune encephalomyelitis (EAE) delayed-type hypersensitivity infections and after injury” (Jenny S. Henkel, 2004)Experimental autoimmune encephalomyelitis (EAE) is a rat brain model which has been primarily featured in the understanding of diseases such as multiple sclerosis. “EAE is a complex condition in which the interaction between a variety of immunopathological and neuropathological mechanisms. Gives rise to an approximation of the key pathological features of MS: inflammation, demyelination, axonal loss and gliosis.” (Cris S Constantinescu, 2011). The EAE rat brain model is very useful with studying disease in the Central nervous system. Certain deficiencies such as Multiple sclerosis has been induced in this model to serve for purposes of research. EAE is considered a model, so the abnormalities are induced in the spinal cord of the animal of choice. EAE is used to evaluate motor function deficiencies but also can be used to evaluate sensory functions. “It is important to recognize that while the monitoring scale is more heavily weighted towards motor signs in EAE, the underlying deficits such as ataxia and inability to right themselves could arise from
Neurofibromatosis(NF) is describe as a nervous system disorder that can affect many different organs in the body; which generally includes the (skin, nerves, brain and spinal cord) as a result of tumor growth on the nerve tissues. This disorder can pass on from parent to child if one of the parents is a carrier for the defected gene or it can develop from a change (mutation) in the “genetic material of the sperm or egg at the conception in families with no previous history of NF.” (Bartoshesky, 2011) There are three types of neurofibromatosis: neurofibromatosis type 1(NF1) also known as Von Recklinghausen, neurofibromatosis type2 (NF2), and Schwannomatosis. Diagnosed of the disease normally depend on specific symptoms, people with NF can
Neurofibromatosis is one genetic disorder that causes tumors to form on nerve tissues in the body. The most common places that they have formed are the brain, spinal cord, and nerves, but can be found anywhere in the nervous system. As neurofibromatosis is usually diagnosed during childhood or early adulthood, tumors usually are noncancerous, but over time can become cancerous. The symptoms are usually mild, but getting looked at right away to have a healthy growth and development will make everything go smoother. Since there are tumors pushing against nerves, surgery is usually the best fit in order to get rid of the tumor and to start living a healthy life (Mayo Clinic, 2016). This genetic disorder involves one in every 4000
The disease anti-NMDA receptor encephalitis is named by Josep Dalmau and his colleagues in 2007. Anti-NMDA receptor encephalitis is a disease that occurs when antibodies that are produced by the body’s won immune system attack NMDA receptors of the brain. NMDA receptors are proteins that control the functions in the brain for critical judgement, perception of reality, human interaction, memory, and things like breathing and swallowing. It is an acute form of brain inflammation. Antibodies are important to protect the body’s defense system, that protects against viruses and bacteria. In some conditions that people have the antibodies that they produce attack against their body which causes and “auto-immune disease”. Anti-NMDA receptor encephalitis
Some tests that might help NFM are, genetic tests and possibly ear exams. Not everyone that has NFM gets the same treatments, it depends on what symptoms a person has that indicates what type of treatments the person is given. Most tumors that are formed through NFM are usually harmless with no cancer.