My disorder is Ataxia telangiectasia. The history of this disorder is that gene found fatal childhood disease senitists have now isolated the gene and identified mutations that cause the childhood disease ataxia telangiectasia. The study that they had taken had results , founded in part by the NIH’s National Institute of Neurological Disorders and stroke NINDS and the A-T Children's project ,are reported in the summer of 95 at the issue in science. Ataxia - telangiectasia is a rare inherited disorder that affects many parts of your body including the nervous system , immune system and other body systems. The people that have this disorder are also at a higher risk of getting cancer. This disorder affects the nervous system, the immune system
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
ALS is led to mean no muscle nourishment. When a muscle has no nourishment, it atrophies or wastes away hence the name. In addition to this, lateral shows the areas in a person's spinal cord where part of the nerve cells that signal and control the muscles are located. As this area degenerates, it leads to scarring or hardening (sclerosis) in this particular region.
Rett syndrome is a progressive neurological disorder that affects almost exclusively in females. The most basic symptoms include decreased speech, cognitive disabilities, severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs in the MECP2, the protein it makes does not work properly. This is thought to counteract normal neuron, nerve cell development. The severity of the syndrome in females is related to the type of mutation in the MECP2 gene and the percentage of cells that carry a normal copy of the MECP2 gene. Rett syndrome is believed to affect all ethnic groups and nationalities with an equal frequency of about 1 case for every 10,000 to 15,000 live female births.
Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain and spinal cord. (“Health and Wellness Resource center and Alternative Health Module”). This enzyme helps to break down GM2 or ganglioside, which without the enzyme to break it down, accumulates to toxic levels in the brain causing serious, life-threatening complications.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Three type of this disease are Infant and Juvenile Tay Sachs, Chronic Tay Sachs, and L.O.T.S which is similar to chronic, but occurs later in life.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Infant and Juvenile result in death while Chronic and L.O.T.S result in a life filled with muscular weakness, and trouble doing everyday activities.(“Health and Wellness Resource center and Alternative Health Module”). Tay Sachs can be spotted before the parents have children by either both admitting to a blood test or if they have a CVS, or Chorionic Villus ...
Rett syndrome is a neurological disorder that mainly affects females. According to “The Molecular Pathology of Rett syndrome: Synopsis and Update”, it states that the disorder starts to be recognizable when the child is between six to eighteen months of age. The affected child will loose their ability to speak and hand movements. Through research, MECP2 is in the X chromosome gene (2006). An estimate of females that suffer from Rett syndrome is 1 in 1,000 and in the United States, it is approximately 16,000 young and adult females that are affected (Rett Syndrome, 2008). In my paper, I will give a brief history of how Rett syndrome was first noticed, discuss the dysfunction in the brain, the development and behavior, and possible treatments.
Muscular dystrophy is a complex disease that has been around for many years. Although it was discovered in the 1830s there is constant discoveries about the disorder. (“New knowledge about Muscular dystrophy,” 2014 May 5) There are several research studies being done around the world to help find a cure. Here’s to hoping that a cure will be found and no more lives will be taken by this debilitating disease (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Association, 2000) It is useful to study this disorder not only to learn to look for symptoms, but
Pervasive Developmental Disorders are characterized by “severe and pervasive impairment in several areas of development” (Tsai, 1998). In the 1994 edition of the Diagnostic Statistic Manuel version IV, three new categories were introduced under Pervasive Developmental Disorders. These include: Childhood Disintegrative Disorder, Asperger's Disorder, and Rett's Syndrome (Volkmar, 2005). All these disorders occur in early childhood and are often not noticed by a parent or primary caregiver until it is noticed that the child is not achieving normal developmental milestones.
Some characteristics of DS are: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options. Improvement can be made through physicians, special education, physical therapy, speech therapy, occupational therapy, and psychol...
science has discovered a method of treatment that can stop all of these disorders before you are
Do you know there is a medically diagnosed disorder that affects over two American children?” Experts on the subject say there are many more undiscovered cases out there and the cause is still unknown. It sounds like we have a really big problem. The thing is, the disorder that affects all these children, isn’t a disorder at all.
Because of this, many researchers are searching for a way to help treat or cure this disorder in
As mentioned in the introduction, the disorder is a neuro-developmental disorder that affects one in twenty children, but adults can have it as well. The disorder is diagnosed during childhood and is harder to detect in adults. People with the disorder have trouble doing simple things like taking a shower or getting dressed for the day. Sports and anything athletic create challenges for people with the disorder. Therapy helps people manage and tackle life with this disorder. Those who have the disorder have more issues when it comes to anxiety and self-esteem. Social situations are hard for people with this disorder because they struggle to read body language as well as struggle with eye contact. People perceive them as being rude when they interrupt them and view them as not listening or paying attention. Adults often go undiagnosed because professionals do not take them seriously when stating symptoms that they are experiencing. The professionals tell them what they are going through is completely normal. Kelly Clarkson said, “What doesn’t kill you makes you stronger”. This disorder doesn’t hold people back for their whole life, but can create challenges for the person who has it in their cards. I wouldn’t want my life any different because I have learned how to maintain the obstacles I have faced due to the disorder. People should help those who are different
I agree with Athenian philosopher, Epicurus’ ethical philosophy that ataraxia is the highest good for a human being and that aponia aids in ataraxia due to one’s mind and body coexisting within a single faction in order for one to function properly at their highest regard. It is often impossible and undesirable for someone to be at their highest good in such mental capacity but be at their lowest capacity via their physical just as it’s undesirable for the opposite to happen.
My future plans are to become a biomedical scientist. Biomedical scientists serve in all levels of health science research from basic science working with cell cultures to human clinical trials experimenting the most cutting-edge breakthroughs to maximize human quality of life. I am interesting in researching rare diseases. There are many rare diseases that affect small proportions of the population and unfortunately go unnoticed for reason. Unfortunately, usually it is because therapeutic agents for these diseases would have a much smaller market than therapeutics for common diseases. There is an immense need for research attention to ultimately improve clinical outcomes in patients of rare diseases because many are a lifelong chronic prognosis and are genetic and non-modifiable by lifestyle factors and are lacking of often absent of current treatment options. The government helps by socializing the solution by having money set aside by public National Institute of Health (NIH) to research ‘orphan diseases’. An example of one such program from the NIH is Orphan Products Natural History Grants Program.