How Common is Neurofibromatosis in USA and the World Over
Neurofibromatosis is an umbrella term covering a group of three genetic disorders of the nervous system. It has three different manifestations which are known as NF1, NF2 and Schwannomatosis. The growth and development of nerve cells is affected by this condition.
Almost half of the individuals suffering from this disorder have a family history of Neurofibromatosis. The other half develops it at some point in their life through gene mutation.
Let’s look at what happens in each of these disorders and how common they are in the United States of America and the rest of the World.
Roughly around 1 in 3,000 people are diagnosed with Neurofibromatosis every year in the USA. That’s about
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It is characterised by light brown patches on the skin and ‘neurofibromas’ which are soft, fleshy growths that may erupt under the skin. Some sufferers also develop brain tumours. The prevalence rate of NF1 is about 1 in 4,000 people. Early death of some NF1 patients results in a higher rate of prevalence among children than in adults.
NF2 is also known as ‘bilateral acoustic NF’. Multiple tumours develop on the cranial and spinal nerves. These tumours may even damage the auditory nerves and lead to hearing loss. Loss of hearing that begins during early teen years is usually the first symptom of NF2. The incidence of this disorder is much less common than NF1 since 1 in 33,000 people are diagnosed every year. The prevalence rate of NF2 is 1 in 60,000. Schwannomas
It is a recently diagnosed type of neurofibromatosis which is rarer than the other two types (NF1 and NF2). Most adults with NF2 eventually go on to develop bilateral vestibular schwannomas by age 30. Schwannomas are a type of painful tumours and are very debilitating for the sufferer. The National Institutes of Health in the USA and Ophanet ( a consortium of European partners) define this disorder as rare. It has been found to affect less than 200,000 people in the US. This means that it affects less than 1 person per 2,000 of the
3,200 cases in the United States. From research and data they conducted and gathered, they
According to the Multiple Sclerosis Association of America, multiple sclerosis is the most common neurological disorder diagnosed in young adults (Gale). Multiple sclerosis could and can be a dangerous disease, it attacks the central nervous system by breaking down the myelin protective coating around the brain and spinal cord, thus affecting nerve impulses to be slowed down. Multiple sclerosis is also known as disseminated sclerosis (Gale). “Multiple” because it affects many areas in the brain and scleroids (sclerosis) are hardened, scarred patches due to damaged areas of myelin (Campanella and Zawada). Multiple sclerosis can be unpredictable and also a disabling disease to many people.
What patients experience due to this disease are a range of physical and cognitive problems. According to Bonafede (2013), these symptoms may include difficulty with balance, muscle coordination, memory, concentration, vision and speech. Moreover, they may “come and go or become progressively worse,” which will end up hindering the person’s abilities and productivity. Until recently, the major course of therapy only included the use of steroids, due to their immunosuppressive qualities; however, now “several new compounds have been developed and approved,” in hopes to change the course of the disease (Tavazzi, 2014, 833). Current available treatments include steroids and Glatiramer acetate, Natalizumab, and Fingolimod. The first, suppresses the immune system to reduce the inflammatory response, thus avoiding the immune cells from entering the central nervous system. However, long-term use of steroids puts the patient at risk for infection or hypertension; so, during the use of these drugs one must make into account if the benefits outweigh the risk. The latter, is a “synthetic amino acid polymer resembling myelin basic protein,” delivered via injection (Tavazzi, 2014, 833). To be more specific, it is thought to set the immune system so as not to attack the myelin, so as to reduce its scarring and damage to the CNS. It has been shown to be safe and well-tolerated. Some
According to unpublished CDC data, during the years of 1979-1998, there were about 23 deaths a year that were caused by fibromyalgia. The crude numbers of deaths rose from 8 in 1979 to a much higher 45 in 1998.
Neurofibromatosis is a genetic disorder that causes tumors to form in the brain, spinal cord, and nerves. There are 3 types of this disorder. Type 1 usually appears in childhood, while type 2 and 3 appear in early adulthood. Type 3 can cause chronic pain throughout the body. Some cases may not require treatment other than careful observation. Other cases may require chemotherapy, radiation therapy, or surgery. In this essay i will explain the causes of the disorder, symptoms, treatment, and a day in the life of that person
Cystic fibrosis is one of the most common genetic disorders. Patients with cystic fibrosis have many serious medical conditions and the majority only live to their mid-thirties. I will be looking at many different aspects of the disease such as, phenotypes, genotypes, and inheritance patterns. Also how the disease is diagnosed, treated, and the prognosis of the disease.
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.
There are no cures or treatments for this disorder; but the only therapy for patients with neurofibromatosis is a program of treatment by a team of specialists to manage symptoms or complications. Surgery may be needed when the tumors compress organs or other structures. Less than 10% of people with neurofibromatosis develop cancerous growths. Although there is no cure for NF, the Neurofibromatosis Association is optimistic there will be an effective treatment within the next five to ten years. For families with NF, genetic screening and counseling is available.
Type 1 signs are birthmarks, freckles, neurofibromas, and lisch nodules. If 6 or more birthmarks appear on a child before the age of 5 the type 1 neurofibromatosis would be considered. If outbreaks of freckles in unlikely places such as groin and armpits this could be a possible sign for type 1. If neurofibromas (which is non-cancerous tumors that may grow on nerves of skin) appear deeper inside the body this may also be considered a sign for type 1. Also, if lisch nodules appear in the iris of the eye, this can also be a sign for neurofibromatosis type 1. Type 2 signs are acoustic neuroma, other tumors, and cataracts. Acoustic neuroma are tumors that develop next to the eighth cranial nerve, which goes from the brain to the inner ear. Acoustic neuroma is the most common sign of type 2 and has symptoms of facial numbness, gradual hearing loss, loss of balance, ringing of the ear, vertigo, and facial weakness. If other tumors develop on skin, brain, or spinal cord then this is a sign of type 2. For older people, cataracts can also be a sign for type 2
At an almost ironically small 1500 grams (3.3 pounds) the human brain is considered the “command center” of the human intelligence. With the help of the branching nerves, the brain has ability to interpret senses, to achieve the movement of the body and act as regulator of all behaviors; and that’s just a small fraction of the nervous systems responsibilities. As the Nervous System, the brain and nerves work in close association with the rest of our body systems to generate the hundreds of thousands of basic steps needed for life. In this multifaceted body system, any seemingly trivial error can lead to catastrophic alteration to the machine that is the human body. We are constantly achieving understanding of the mechanisms of diseases and syndromes and somehow there is still, simultaneously, an abundance of new pathologies that science has yet begun to understand. One such disease that affects the nervous system specifically is Schwannomatosis. In this paper, we will discuss the symptoms, platforms of the disease, complications, some treatment options and outcomes.
Otosclerosis is a disease of the bone of the middle and inner ear. The term is otosclerosis is derived from oto, meaning “of the ear” and sclerosis, meaning “abnormal hardening of body tissue.” Otosclerosis is caused when one of the bones in the middle ear, the stapes, becomes stuck in place. When the stapes is unable to vibrate, sounds are unable to travel through the ear and hearing becomes impaired.
Multiple Sclerosis is a debilitating neurological disorder that is an abnormal response of the body’s immune system which is directed against the central nervous system. The immune system attacks glial cells called “myelin”. Damaged myelin is turned into scar tissue. This scar tissue is called “sclerosis”, which gives this disease the name “Multiple
Vestibular Schwannoma, or Auditory (Acoustic) Neuroma, is a slow growing benign tumor that arises from the vestibular branch of the vestibulocochlear nerve (CN VIII). Tumor growth is due to the an uncontrolled and over-production of Schwann Cells. Vestibular Schwannoma is very rare (usually one in 100,000 per year) and mostly affects people between ages 30 to 60 years old. Common symptoms of Vestibular Schwannoma include hearing loss, unilateral tinnitus (ringing in the ears), or balance problems (or even vertigo). Vestibular Schwannoma is noncancerous and a noninvasive tumor, but it could become life threatening if it grows larger due to its close proximity of the brain stem and the cerebellum. Facial weakness or paralysis and recurring headaches are symptoms of large tumor growth in the vestibular nerve.
Scleroses are scarring at myelinated sites caused by multiple inflammatory events as a consequence of one’s immune system cells attacking oligodendrocytes. If this fate continues long enough, loss of function can occur due to disruption of electric impulse through axons.
Neurofibromas may become apparent from ten to fifteen years of age. Symptoms like café-au-lait, freckling, and lisch nodules pose little to no health risk to a person. Neurofibromas are mostly a cosmetic concern but they can be psychologically distressing. Neurofibromas can grow inside the body and may affect organs and could be severely debilitating. Fifty percent of children with type one may have learning disabilities, hyperactivity, seizures, and speech impediments. Type two is less common but it also causes more tumors. Symptoms for type two include: schwannomas, brain tumors, tinnitus, cataracts at young ages, spinal tumors, balance problems, and atrophy. Schwannomas are tumors along the eighth cranial nerve. Tinnitus is ringing noises inside the ear, hearing loss, or deafness. Cataracts cause clouding in the lens of the eye. Atrophy is wasting of the muscles or organs. Hearing loss can begin as early as the person’s teenage