NF1 And Neurofibromatosis: Two Different Types Of

The chart below shows the electromyogram results from the study showing neuromyotonic discharges. The discharges are the burst of spontaneous motor units as doublet, triplet, and multiplet release of high intraburst frequency. These discharge were found in every patient, even the one who showed no observable movement (Panagariya385).

Multiple Sclerosis and Guillain-Barré Syndrome are two autoimmune disorders of the nervous system that occur when the myelin sheath surrounding the axons of a nerve degenerate. Multiple sclerosis (MS) affects the central nervous system while Guillain-Barré Syndrome (GBS) involves the peripheral nervous system.1,2 MS is a gradually regressing disease that usually occurs in one of four ways. The first is relapsing-remitting MS (RRMS) and is the most common. Patients typically experience relapses where the symptoms are aggravated and enhanced followed by episodes of remissions during which the symptoms cease or calm down. 3 The second type is called secondary-progressive MS (SPMS). This type mimics RRMS but undergoes a steadier decline that may or may not include relapses3. The third type is primary-progressive MS (PPMS) where the disease progresses at a more regular rate from onset. PPMS, however, may speed up, slow down, or even plateau for a bit, but no remissions are present.3 Lastly, progressive-relapsing MS (PRMS), the least common type, presents similarly to PPMS in that the decline is steady, but this type of MS has exacerbations that the patient may or may not recover from.3 Unlike MS, Guillain-Barré does not present in types and characteristically attacks more rapidly.2 It is a poorly understood disease, however, research has shown that it is generally preceded by a bacterial or viral infection.4

A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.

discoveries is information regarding chromosomal and genetic disorders. Both chromosomal and genetic ailments can have harmful effects on the body. Genetic diseases such as Bloom's Syndrome occur as a result of gene alterations. These gene mutations cause the chromosomes to become unstable, leading to chromosomal breaks, separations and structural repositioning (Freivogel 170). Chromosomal diseases like Charcot-Marie Tooth Disease are also caused by mutations, which are nearly irreversible (Krajewski 232).

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

When people think about a mutation or a genetic disorder, they often tend to think about fictional like characters such as a half beast half man scenario. However, genetic disorders and mutations are simply just mistakes in the genetic code. These mistakes can be so minor that it has no effect on you whatsoever, or they can be a major problem. Myotonic dystrophy type 1 is one of those genetic mistakes that has a huge impact on the way you live your life. Myotonic dystrophy type 1 is a type of multisystem disorder that cannot be caught, but is genetically inherited. Myotonic dystrophy type 1 has to do with a special gene and chromosomal problem, with very severe, rare symptoms, and it has a major impact on life.

There are two types of diseases, infectious and genetic. Unlike infectious diseases that are caused by organisms such as bacteria, genetic disorders are caused by mutations in an organism’s DNA. Cystic Fibrosis is a genetic disorder that is recessive autosomal and causes the creation of thick and sticky mucus. Because the disorder is recessive there must be two recessive alleles present for the trait to be expressed. Whereas in dominant disorders only one dominant allele needs to be present to express a disorder. For there to be two recessive alleles, both of the parents must be homozygous recessive or heterozygous for the offspring to express the recessive trait. If the offspring is heterozygous they will become carriers of the disorder and

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.

Neurofibromatosis affects about 100,000 Americans. This disease can affect all ages, sexes, and ethnic groups. Neurofibromatosis is a nervous disorder that causes tumors inside and outside of the body. According to Norris M. Haynes (2011), Some individuals may only have mild skin lesions, and others may have more physically disfiguring tumors and life threatening complications. The chance of having this neurofibromatosis is a large concern to the patient and family, which is why it's important to understand the disorder. The three main factors of understanding what neurofibromatosis is, are signs and symptoms, causes and diagnosis, and treatments for the disease.

NF1 is an autosomal dominant condition produced by lower production of the protein neurofibromin, which has a tumor suppressor action.

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000

Some of the most common ones are Huntington’s disease and neurofibromatosis type one. “Huntington’s disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive declined dementia” as explained by the website Huntingtons.org. Also, the website explains that the Huntington’s disease becomes noticeable in middle age. Some of the causes for this disease as interpreted in the Huntingtons.ord webstie is that “an autosomal (an equal number of copies of the chromosome in males and females) dominant mutation on either of an individual’s two copies of a gene called Huntington whcih means any child of an affected parent has a fifty percent risk of inheriting the disease”. Typically the physical symptoms of Huntington’s disease begin between the ages of 35 to 44 years old but sometimes they can begin at any age from infancy to an older age. “Neurofibromatosis type one is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumores along nerves in the skin, brain, and other parts of the body” accordint to the U.S National Library of Medicine. The people affected with this disease have different types of signs and symptoms when developing the disease. Not every person affected with the Neurofibromatosis type one disease will experience the same symptoms becuase the symptoms vary depending on the person. Accordint to the website Mayo Clinic “Neurofibromatosis type one occurs in one in three thousand to four thousand people worldwide”. Different types of signs and symptoms can occur depending on which type of nuerofibromatosis disease the person

Neurofibromatosis has been known to affect about 200,000 people in the United States every year. Neurofibromatosis is a disease that causes tumors throughout your nervous system. This disease can’t be cured, causes high blood pressure, a larger head, and occasionally scoliosis. Some common side effects are tumors in brain and nervous system, and bumpy tumors all over your skin.

There are many types of genetic conditions. Genetic mutations cause these genetic conditions. Genetic mutations can occur if there is an extra chromosome in a gene, if there is a missing chromosome, or even if there is a distorted chromosome. Some genetic conditions include autism, food allergies, and Down syndrome.