Neurofibromatosis Research Papers

Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.

Multiple Sclerosis is a disease that attacks the myelin coating over the nerve receptors in your brain and spinal cord. Myelin is a fatty material that coats and protects the nerves in your brain. These nerves send signals to the rest of your body enabling

Multiple Sclerosis (MS) is an autoimmune disease that attacks the central nervous system. The myelinated nerve cells get attacked which results in scars and lesions that destroy the myelin sheath. The reason for the body attacking its own nerve cells is unknown. Many believe that the cause of MS is from a virus, a deficiency in Vitamin D, or genetics. Studies are being done to find out what is the real cause of MS.

Multiple Sclerosis (MS) a disease which the immune system attacks the protective sheath also known as the myelin that covers the nerves. Damages myelin disrupts the communication between the brain and the rest of the body. The nerves itself may weaken, process that is currently irreversible.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Multiple Sclerosis, commonly referred to as MS, is an unpredictable disorder of the central nervous system, or CNS, and it is a chronic inflammatory disorder. MS is a disease that involves the immune system attacking the CNS. They myelin that covers and protects the nerve fibers is damaged, as well as the nerve fibers themselves. They myelin that is damaged forms scar tissue know as sclerosis. This is where the name of the disease came from. When the nerve fibers or myelin is damaged, the nerve fibers that travel to and from the spinal cord are distorted or interrupted this is why there is a variety of symptoms that can occur. Multiple Sclerosis affects rather young individuals, as young as twenty. It is most common in adults in their twenties

Multiple sclerosis (MS) is autoimmune, inflammatory disease involving the central nervous system (CNS). This disease is a result of the immune system attacking myelin proteins. Usually affecting younger people between the ages of 20 and 50 years, multiple sclerosis slowly destroys the myelin sheath that are located in the CNS causing them to eventually create scleroses, or hardened lesions. Symptoms of multiple sclerosis can be different, but visual, sensory, and motor signs are usually affected with this disease. Some early symptoms care problems like blurred or double vision, numbness, loss of balance, and weakness in arms or legs, as well as fatigue, muscle spasms, speech problems. Approximately 400,000 people in the United States and 2.5 million people worldwide are affected by multiple sclerosis (Hersh and Fox, 2014). Educating ones self about multiple sclerosis is important because it has many unanswered questions. There are many theories and treatments that may seem like they work, but there is no cure or definite reason why MS happens. Multiple sclerosis is also a disease that affects many people and is very hard to treat.

Imagine a world where you have been diagnosed with a disease that has no cure and left your world upside down because your body has turned against you. Multiple Sclerosis is a potentially debilitating disease that is caused by the body’s immune system attacking the Myelin sheath of nerve fibers throughout the body (Multiple Sclerosis, 2017). This, in turn, creates miscommunication or lack of communication in the body, which can eventually lead to permanent disability. For those who are diagnosed, there are various symptoms to watch for and while not curable, it is treatable.

(2005) neurofibromatosis type II is a rare condition with an incidence of 1 in 25,000 persons and a penetrance of nearly 100% by age sixty. NFII is an autosomal dominant heritable neoplasia syndrome as defined by Asthagiri et al. (2012). The hallmark of this disorder is the development of bilateral acoustic neuromas, also known as cochleovestibular schwannomas (CVSs), on the auditory nerve. According to previous research, bilateral CVSs are present in 90-95% of NFII patients (Evans, et al., 1992). These non-cancerous tumors are a result of an NFII gene mutation specifically affecting a protein called merlin, also known as schwannomin. This protein acts as a suppressor, keeping cells from growing too rapidly. When the mutation occurs in the gene, it leads to a production of non-functioning merlin protein that cannot regulate growth and division of cells leading to acoustic neuromas. Although it is known how these neuromas form, the way that these neuromas cause hearing loss is not yet fully understood. Asthagiri et al. (2012) stated that “the most frequently cited hypothesis is that the enlarging CVS causes hearing loss through direct compression and stretching of the cochlear nerve.” Neurofibromatosis type II is characterized by bilateral acoustic neuromas, and the surgery to remove these neuromas generally results in severe damage to the auditory nerve causing deafness (Jackson, Mark, Helms, and Behr,

Symptoms such as café-au-lait spots, freckling and Lisch nodules pose minimal or no health risk to a person, But people with NF2 can get tumors that grow on the vestibular nerves and eighth cranial nerves. though much research has gone into it there is currently no cure for either NF1 or NF2. Neither NF1 or NF2 is contagious instead NF occurs by either inheriting it from parents or is a result of gene mutation but,if mom/dad of a child has NF there is a 50/50 chance that the child will

Although Fibrocystic Disease is common, women don’t know about it until they actually get it. The physicians are not calling this a disease, but rather a condition now.

Multiple Sclerosis is a disabling autoimmune disease that basically attacks the protective sheath of our myelin. The myelin surrounds the nerve fibers and helps orchestrate impulses that our sent to our spinal cord and brain otherwise known as the central nervous system. People who are diagnosed with MS have damaged or inflamed myelin around the nerves causing poor conduction where the impulses are either weakened or lost. With the damaged myelin protective coating, the nerves are then more vulnerable to attack from the immune cells. As we know, immune cells protect the body from foreign substances such as bacteria or viruses. This neurological disease typically manifests in young people between the ages of 20-40 years old. MS is predominately diagnosed in woman more than men and also in Caucasians verses any other races. MS not only affects our ability to walk and talk, but our breathing even relies on proper functioning of the CNS. This disease deteriorates our myelin and is irreversible. Some people diagnosed with MS go long periods in remission while others eventually die.

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.

Multiple sclerosis is a debilitating nervous system disease that wreaks havoc on the brain and spinal cord. It causes severe damage to the myelin sheath that covers and protects your nerve cells. The damage to these protective sheaths prevents proper communication between nerve cells and slowing down or preventing communication between your brain and body, which then causes the various symptoms of the disease.

White matter disorder is a disease which occurs due to lack of white matter surrounding the nerve fibers in the brain. It is a mental illness that occurs in childhood. White matter disorder can be diagnosed with the help of MRI. Disease involving white matter is called as white matter disorder.