Congenital means present at birth. Congenital muscular dystrophies progress slowly and affect males and females. The two forms that have been identified -- Fukuyama and congenital muscular dystrophy with myosin deficiency -- cause muscle weakness at birth or in the first few months of life, along with severe and early contractures (shortening or shrinking of muscles that causes joint problems). Fukuyama congenital muscular dystrophy causes abnormalities in the brain and often seizures. Oculopharyngeal.
Children with Down syndrome have a hard time in life. The effects on them, makes their life a struggle. Down Syndrome is a chromosomal abnormality and probably the most common genetic condition, occurs in about one in every eight hundred to one thousand live births or accounts for about 5 to 6 per cent of intellectual retardation. Down mainly affects their learning, social, walking, talking, dressing themselves and being toilet trained and behavior. Initially, Down's syndrome was given the label of Mongolism due to the characteristics of it.
Neuropathology Of Down's Syndrome Down’s syndrome is the most commonly identified cause of mental retardation occurring in 1 out of 700 live births. In addition to mental deficiency, characteristics of the disease include epicanthic folds of the eyes, flattened facial features, unusual palm creases, short stature, open mouth, protruding tongue and poor posture. A twenty-two to fifty fold increase in risk of the development of leukemia along with congenital heart defects in forty percent of these individuals is also seen. The increased level of purines often found can lead to mental retardation itself. Neurological impairment and immune system deficiencies make these individuals more susceptible to infection.
More than 50 years after the science of genetics was established and the patterns of inheritance were clarified, the largest questions remained unanswered: How are the chromosomes and their genes copied exactly from cell to cell, and how do they direct the structure and behavior of living things? Two American geneticists, George Wells Beadle and Edward Lawrie Tatum, provided one of the first important clues in the early 1940s. Working with the fungi Neurospora and Penicillium, they found that “genes direct the formation of enzymes through the units of which they are composed.” (Annas) Each unit, a polypeptide is produced by a specific gene. This establish the field of molecular genetics. The fact that chromosomes were almost entirely composed of two kinds of chemical substances, protein and nucleic acids, had long been known.
But with technological advancements within the scientific community, more and more information has been gathered about the condition that affects about one in every one thousand children born around the world. (4). Research shows that Down syndrome is a genetic condition caused by certain chromosomal abnormalities. Chromosomes within cells are composed of proteins and genetic information in the form of DNA. Human cells normally contain 23 pairs of chromosomes to make a total of 46 chromosomes in each cell.
This is the additional genetic material alters of the course of development and causes the characteristics that are associated with Down syndrome. A few of common physical traits of the Down syndrome disorders are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm of your hand. Although each person that is diagnose with Down syndrome may have possess these characteristics to the different degrees. One in every 691 babies in the United States is born with Down syndrome. Which is marking Down syndrome the most common genetic condition of most disorder.
In 1959, Jerome Lejeune and Patricia Jacobs discovered the true cause. It is trisomy of the 21st chromosomes that causes DS and the debilitating characteristics along with it (Leshin, 2000). Chromosomes are string like structures that contain DNA and other compounds. They are the information center of living organisms. DNA can be broken down into smaller parts called genes, which contain traits of the individual.
Cardiovascular system Congenital Heart Disease Congenital heart disease is a defect in one or more structures of the heart or blood vessels that occurs prior to birth. Defects can be severe at birth and require immediate attention, while others are mild that will heal on its own, and some go unnoticed until a person is older. It affects 1 out of every 100 children at birth (WebMD, American Heart Association). Heart valve defects include narrowing of the valves or complete closure that stops forward blood flow. Some valves do not close properly allowing blood to leak backwards.
Tay-sachs Disease Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material, a severe decline of mental and physical abilities occurs. The child then becomes deaf, blind, and unable to swallow.
Some mutations are absolutely harmless; these are the mutations that take up most of the typical human’s body. Nevertheless, there are also some genetic mutations that are harmful to the body. For example, one in every six hundred and ninety-one American babies are affected by Down Syndrome, a form of a genetic mutation. It is estimated that just under six million people worldwide live with the condition today. Down Syndrome is defined as a congenital disorder arising from a chromosome defect, causing intellectual impairment as well as physical abnormalities.