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Neurofibromatosis

            
            
             There are two types of neurofibromatosis: NF1 and NF2. NF1 is benign and NF2 is more severe. Neurofibromatosis is a defective gene on chromosome 17. It is inherited through autosomal dominant genes. It is one of the most commonly inherited genes. About 1/2 of all cases are due to new mutations that are not inherited from parents. The gene is large, and this accounts for the high frequency of new mutations.
             There are many symptoms associated with neurofibromatosis. Major symptoms include numerous benign tumors, which appear on or under the skin or in deeper areas within the body. These tumors can produce disfigurement and orthopedic problems, including curvature in the spine and bone loss on the weight bearing bones of the body. Another major symptom is the appearance of café-au-lait spots, which are discolored spots on the skin. Other symptoms include: delay in sexual development, learning disabilities, nodules on the iris of the eyes, pain, vision loss, seizures, hyperactivity and speech problems. These would be things to look for to detect NF1.
             There are very few things that can be done to diagnose NF1. An eye examination is offered to look for nodules in the iris of the eyes. Although there are very few to no tests that can be done now, genetics tests will arrive in the future to diagnose NF1. There is also on prenatal diagnosis.
             NF1 can be treated by surgical removal of troublesome tumors. Physical therapy is occasionally useful and orthopedic devices can improve disabilities in some cases. These do not always work and as a result, the spinal and intracranial tumors can shorten the patient's life span.
             NF1 affects approximately 100,000 Americans. It occurs in both males and females. 1 in every 4,000 people has it. Approximately 50% of affected families have a negative family history. Around 95% of all cases go unnoticed! Tumors turn malignant in 3-15% of cases, 40% have learning disabilities and 2-5% are mentally retarded.


Essays Related to Neurofibromatosis

1. Neurofibromatosis

... past but recent advancements in understanding the disorder made some of those terms obsolete. NF1 was previously known as peripheral neurofibromatosis, or von Recklinghouasen's disease after the doctor who first described it in 1882. NF2 was called bilateral acoustic nuerofibromatosis, central neurofibromatosis, or vestibular schwannoma. NF is found in every racial and ethnic group throughout the world and affects both sexes equally ... of the gene is "autosomal dominant", so that the child of a parent with NF has a 50-50 chance of inheriting the NF gene and showing at least some signs ...

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2. Treating PTSD and Depression with Medical Marijuana

... -patella syndrome, Anorexia nervosa, Lupus, Alzheimer's disease, Arnold-Chiari malformation, Syringomelia, Rheumatoid arthritis, Cachexia, wasting syndrome and Causalgia. It has also been used in the treatment of Human Immunodeficiency Virus , Neurofibromatosis, dysplasia, Polycystic kidney disease, Muscular Dystrophy, Glaucoma, Parkinson's disease, Crohn's disease, Dystonia Ehlers-Danlos Syndrome, Fibromyalgia, Post-traumatic stress disorder, Hydrocephalus Interstitial Cystitis, Irritable Bowel Syndrome, Migraines, Hepatitis C, Myasthenia, Fibrous ... ...

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3. Autism

... remains unclear, although most neurological studies seem to indicate a dysfunction in the brain as a possible reason. Autism has been found in children with brain abnormalities such as congenital rubella syndrome, neurofibromatosis, and tuberous sclerosis. Autism can also be present in genetic syndromes such as fragile X syndrome and phenylketonuria. Some research has shown that there may be an autism gene, or two ... ...

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4. Autism

... remains unclear, although most neurological studies seem to indicate a dysfunction in the brain as a possible reason. Autism has been found in children with brain abnormalities such as congenital rubella syndrome, neurofibromatosis, and tuberous sclerosis. Autism can also be present in genetic syndromes such as fragile X syndrome and phenylketonuria. Some research has shown that there may be an autism gene, or two ... ...

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5. Epilepsy

... and the Family by Richard Lechtenbergh, M.D. (1984) it shows a few of the most common diseases that are wrongly diagnosed, such as Phenylketonuria (PKU), a very treatable infant blood disease, Turbeous Sclerosis, Neurofibromatosis, and Huntington Disease. It has also been known to think that epilepsy was a symptom of Schizophrenia (Caplan, Arbelle, Guthrie, Komo, Shields, Hanson & Sirichai, 1997). The second myth about Epilepsy is ... ...

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