[Biology]
In general, a genetic disease is any kind of disease which is caused of the deformity in the human genome, his whole genetic makeup (Melissa Conrad Stöppler). Basically, it means that person is being different from standard or normal people, because he or she is suffering from a certain kind of illness. Nowadays, unfortunately, there are many humans who are affected by various genetic diseases and the list of them is rather huge. Let us take into account and discuss widely spread type of genetic disease which is called Down syndrome.
This illness is a typical chromosomal abnormality which influences 1 out of 800 - 1000 newborns (especially when a woman or mother gets older the chance significantly increases). This effect develops in case an additional duplicate of genes happens on chromosome 21. Downs usually can be revealed by using pre-natal testing. However, damaged and deeply moved babies commonly have the following features from the early birth, such as heart defects, intellectual disability, lowered muscle tone in infancy, deformities in digestive system, brain development delays, etc. Moreover, certain individuals can catch vision problems or even and enhanced venture of hearing ("The 10 Most Common Genetic Disorders").
According to other statistics, only in the United States each year, 5,300 of babies bears with the Down syndrome and 250,000 amounts of humans have this condition.
Affected by this genetic disease, people have an enhanced chance of established a few medical conditions, for example, gastroesophageal reflux or celiac disease. Up to 15 % of humans who are born with Down syndrome have a decreased (lowered) thyroid gland a kind of a butterfly-shaped body organ in the lower neck that generates hormones. In addition, some people might evolve cancer of blood-forming cells, an illness which is called leukemia.
Some other issues may be observed if a person has a genetic illness of Down syndrome. For example, twisted speech; passive development of language in a comparison with normal kids / people; behavioral problems (matters with attention), tantrums, constant depression, stubbornness and so on. A small amount of humans with Down syndrome are identified as autistic - spectrum disorders, which influences mainly social interaction as well as communication (“Genetics Home Reference”).
What is more dangerous about Down syndrome is that people with this type of genetic disease have problems with thinking when they aged 50 years old. Moreover, Alzheimer's disease can develop from Down syndrome. It is a brain disorder which leads to a gradual memory loss or ability to function. The sad fact is that 50 percent of adults with Down syndrome evolve Alzheimer illness. Despite the fact that Alzheimer disease is normally a clutter which affect elderly people, a genetic disease in most cases develops when a person reaches the age of 50-60.
Most instances of Down disorder are associated with trisomy 21, which implies every cell in the body has three duplicates of chromosome 21 rather than the typical two duplicates. A little rate of individuals with Down disorder have an extra duplicate of chromosome 21 in just a part of the body's cells. In such case, this condition is called mosaic Down disorder. Analytics are assured that an extra duplicate of genes undermines the course of ordinary individual’s development (“Genetics Home Reference”).
Works cited
Melissa Conrad Stöppler, MD. "Genetic Disease: Get The Definition Of These Disorders". Medicine.Net. N.p., 2016. Web. 20 May 2016.
"The 10 Most Common Genetic Disorders". Activebeat.com. N.p., 2016. Web. 20 May 2016.
"Genetics Home Reference, Your Guide To Understanding Genetic Conditions". Genetics Home Reference. N.p., 2016. Web. 20 May 2016.
