Genetic Diseases
Many human diseases have a genetic component. This research paper will talk about 4 genetic diseases: Down syndrome, Spinal Muscle Atrophy, Autism, and Hemochromatosis. Spinal Muscle Atrophy and Hemochromatosis are fairly rare diseases. Autism and Down Syndrome are becoming more and more common. This research paper will discuss what these diseases are, how rare they are, and what characteristics are common with these diseases. Down Syndrome Down syndrome is a chromosomal condition that can’t be cured. It occurs when a child is born with a partial or full copy of chromosome 21. This extra genetic material changes learning and development courses. Some ways to identify if a child has it are: a single, …show more content…
Trisomy 21 is the most common of the three. This results when there are 3 copies of chromosome 21 instead of just 2. Before or at conception, a pair of 21st chromosomes in either the sperm or egg doesn’t split. As the embryo develops, this is replicated in every cell.
Mosaicism is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Mosaicism is the least common of the three and only happens in about 1% of cases. It is believed that those with mosaicism have fewer distinguishing signs than those with translocation or trisomy 21.
Translocation accounts for 4% of diagnosed cases. The total chromosome count stays the same at 46 but a partial or full copy of chromosome 21 is attached to another chromosome, usually chromosome 14. The presence of the extra or partial chromosome 21 is what causes down …show more content…
The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop. There's a great deal of variation in the age of onset and level of motor function achieved in chromosome 5. These are roughly correlated with how much functional SMN protein is present in the motor neurons, which in turn is correlated with how many SMN2 genes a person has. Sensory, mental and emotional functioning are entirely normal in chromosome-5 SMA.” according to the MDA. (MDA, 2016)
What is the progression of SMA?
In chromosome 5-related SMA, the later the symptoms begin and the more SMN protein there is, the milder the course of the disease is likely to be. While in the past, infants with SMA typically did not survive more than two years, doctors today prefer not to make life expectancy judgements.
Hemochromatosis
Hemochromatosis is a disease when the body simply loads too much iron. This action is genetic and the excess iron ,if left untouched, can damage joints, organs, and eventually be fatal. There are several types of hemochromatosis. Type 1 ,or HHC, is a leading cause of iron overload disease. People with HHC absorbs extra amounts of iron from
Many human diseases have a genetic component. This research paper will talk about 4 genetic diseases: Down syndrome, Spinal Muscle Atrophy, Autism, and Hemochromatosis. Spinal Muscle Atrophy and Hemochromatosis are fairly rare diseases. Autism and Down Syndrome are becoming more and more common. This research paper will discuss what these diseases are, how rare they are, and what characteristics are common with these diseases. Down Syndrome Down syndrome is a chromosomal condition that can’t be cured. It occurs when a child is born with a partial or full copy of chromosome 21. This extra genetic material changes learning and development courses. Some ways to identify if a child has it are: a single, …show more content…
Trisomy 21 is the most common of the three. This results when there are 3 copies of chromosome 21 instead of just 2. Before or at conception, a pair of 21st chromosomes in either the sperm or egg doesn’t split. As the embryo develops, this is replicated in every cell.
Mosaicism is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Mosaicism is the least common of the three and only happens in about 1% of cases. It is believed that those with mosaicism have fewer distinguishing signs than those with translocation or trisomy 21.
Translocation accounts for 4% of diagnosed cases. The total chromosome count stays the same at 46 but a partial or full copy of chromosome 21 is attached to another chromosome, usually chromosome 14. The presence of the extra or partial chromosome 21 is what causes down …show more content…
The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop. There's a great deal of variation in the age of onset and level of motor function achieved in chromosome 5. These are roughly correlated with how much functional SMN protein is present in the motor neurons, which in turn is correlated with how many SMN2 genes a person has. Sensory, mental and emotional functioning are entirely normal in chromosome-5 SMA.” according to the MDA. (MDA, 2016)
What is the progression of SMA?
In chromosome 5-related SMA, the later the symptoms begin and the more SMN protein there is, the milder the course of the disease is likely to be. While in the past, infants with SMA typically did not survive more than two years, doctors today prefer not to make life expectancy judgements.
Hemochromatosis
Hemochromatosis is a disease when the body simply loads too much iron. This action is genetic and the excess iron ,if left untouched, can damage joints, organs, and eventually be fatal. There are several types of hemochromatosis. Type 1 ,or HHC, is a leading cause of iron overload disease. People with HHC absorbs extra amounts of iron from