Research Paper On Distichiasis

This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two

The genetic disease that I am writing about is called Cystic Fibrosis. Cystic Fibrosis is a genetically transmitted disease that is caused by a defective gene that makes the body produce abnormally thick and sticky mucus, impacting your lungs, pancreas, liver, intestines, sinuses, sex organs and sweat glands. Cystic Fibrosis makes this mucus can clog up your lungs and pancreas making it difficult to breath and serious digestive issues. This amount of thick mucus in the lungs can cause repeated lung infections or even permanent lung damage. The disease may also affect the sweat glands and a man's reproductive system. There are a lot of different symptoms of Cystic Fibrosis depending if it is affecting your digestive system or your lungs and

Cystic fibrosis is a genetic life-threatening disease. Other names for cystic fibrosis may be CF for short, cystic fibrosis of the pancreas, fibrocystic disease of the pancreas, mucoviscidosis, mucoviscidosis of the pancreas, pancreas fibrocystic disease or pancreatic cystic fibrosis. Cystic fibrosis was first discovered in 1938 by Doctor Dorothy Hansine Anderson. Doctor Anderson was the first to view cystic fibrosis as a disease and helped create tests to diagnose it. Cystic fibrosis is a disease that is passed from parents to children through genes. It is a long-lasting illness of the secretory glands. The secretory glands are what makes mucus, sweat, tears and saliva. Cystic fibrosis causes the secretory glands to generate unusual thick

Duchenne Muscular Dystrophy is an X-linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive, therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual disability, and cardiac disease which is the main cause of death.4

glands and male fertility. The name Cystic Fibrosis derives from the Fibrous scar tissue that

Cystic fibrosis is an inherited life- threatening disorder that damages the lungs and digestive system. This disorder can also be known as Mucoviscidosis . Long- term issues include difficulty breathing, also coughing up sputum as a result from frequent lung infections. Sinus infections, poor growth, clubbing of the finger and toes, also infertility in men are other possible symptoms of this disorder. Different individuals may have different degrees of symptoms. Cystic fibrosis is an autosomal recessive disorder. Mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulatory (CFTR) is the cause of this. CFTR is involved in production of sweat, digestive fluids, and mucus. Secretions,

Children who have DMD have mobility problems and are usually wheel chair dependent between ages 4 to 10. Overtime, the loss of dystrophy can lead to cardiomyopathy due the degeneration of the heart muscle. Muscles on the lungs and diaphragm can also weaken which can lead to poor respiratory health. This can lead to “shallow and labored breathing and a build-up of mucus and bacteria. As a result, children with DMD are prone to severe chest infections” (Pearce, 2012). The decrease of oxygen in the blood can affect sleep and can lead to difficulty in concentrating and staying

It is an autoimmune condition. It is also inherited and also can be associated with medical conditions.

As shown in Figure 1, this presents the most common scenario that is passed down to children since most people with the disease do not have a long enough life expectancy, and most females who get both affected X chromosomes by a carrier mother and affected father is very unlikely. The chart explains how the males who receive the disease get it from a carrier mother who is unaffected by the disease as the one affected X chromosome is masked by unaffected X chromosome; a task that the Y chromosome cannot achieve, thus making the male population inclined to receive it more likely than females. Figure 1 illustrates a more detailed Punnett Square depicts the common scenario. Duchenne Muscular Dystrophy is caused by a mutation of the dystrophin gene at locus Xp21, located on the short arm of the X chromosome. The DMD disease occurs primarily from frameshift mutations in the dystrophin gene. Just short of 70% of cases of DMD occur from deletion of the dystrophin gene, 10% of cases occur from the harmful addition of the gene. The remaining cases (that have medically been recorded), have occurred because of disastrous point mutations that change in the DNA sequence.

The symptoms are also effected by the age of the carrier. If an adult is experiencing muscle weakness especially in the leg, hand, neck, and face, and myotonia, which is uncontrollable contraction of muscles, they should be suspected of having DM1. If a newborn has hypotonia, facial muscle weakness, general weakness, positional malformations, or respiratory insufficiency, it should also be suspected of having DM1. Many testes are available to be able to determine if you have DM1. Some tests include electromyography, serum CK concentration, and a muscle biopsy. Checking allele sizes also help to determine whether or not you are positive for DM1. Unfortunately, since the disorder is rare, it is very difficult to predict a prognosis on it. “Non-molecular testing that has been used in the past to establish the diagnosis of DM1 currently has little role in diagnosis and is primarily used if molecular testing of DMPK does not identify the CTG repeat expansion and other myopathies are being considered.” (Thomas D. Bird).

Answer: The disease isn’t a disease, it is considered a disorder. This disorder can’t be a disease because it is a disorder with having an extra chromosome. It is a disorder because it is caused by the chromosomal abnormality called Trisomy 21.

The exact cause of this condition is not known. The condition may be passed down through families through an abnormal gene.

It is caused by a defective gene for dystrophin, which is a protein in muscles. Often, people with unknown family history of the condition find that they have MD symptoms. Boys are affected by the disease not girls. Sons of female carriers have a 50-50 chance of the disease whereas daughters have a 50-50 chance of being carriers. One out of every 3,600 male infants have Pseudohypertrophic MD. Because of it being an inherited disease, the risks included are a family history of Duchenne

My genetic disorder is Fragile X Syndrome. Fragile X Syndrome is a disorder that causes you to take more damage when you hurt yourself and affects your ability to think. This disorder is tied to the X chromosome and nothing contributes to it, but it does contribute to De Grouch Syndrome. De Grouch Syndrome has more advanced affects. The cause is a boy inherits an X chromosome from only his mom but a girl can inherit it from mom or dad.

Occurrence of lymphedema and distichiasis at puberty comprise the clinical diagnostic criteria.31 In LDS, germline mutations in forkhead transcription factor C2 (FOXC2) gene mutations have been implicated.31 This gene is integral in the development of lymphatic vasculature.32 In patients with FOXC2 mutation, 100% will have superficial vein incompetence while a third will have deep vein incompetence.33 The resulting venous stasis explains the edema. In a very recent study, even mutations FOXC1 were noted to cause abnormal lymphatic vessel morphogenesis.34 This discovery recognizes both FOXC1 and FOXC2 as fundamental controllers of lymphangiogenesis and demonstrates another potential target for the management of