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Autosomal Diseases
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Down syndrome
Down syndrome or DS, is one of the most common genetic causes of mental retardation or developmental delay. That means it is caused by a problem with a persons chromosomes, on which the genes that make each person unique are located.
People with DS are usually mildly to moderately mentally retarded. Some are developmentally delayed and some are severely retarded. Each person with DS is different.
Babies with DS tend to develop more slowly than other babies do. They may start walking later than other babies. When they are grown, they tend to be smaller than the other members of their family and they may be a little stocky or heavy.
Many people with DS have eyelids that may be slanted upward. They may have small folds of skin at the inside corners of their eyes. Their noses may be somewhat flat and their ears may be small and shaped abnormally. They may have a large space between the big toe and the second toe.
Children who are born with DS are also more likely to have certain health problems. They are more likely to get infections, such as respiratory illnesses (problems with lungs and breathing). When they do get infections, they often last longer. They may have eye or ear problems or digestion problems like constipation. Some babies with DS may have problems in their stomachs or intestinal blockage that prevent them from digesting food properly.
About half are born with heart defects, which means there is something different with the way their heart developed. Some develop leukemia, a type of cancer. But each person with DS is different and may have one, several, or all of these problems.
Down syndrome is caused by, having an increased number of chromosomes. Normally, there are pairs of chromosomes. Half of the pair is from the mother and half are from the father.
Down syndrome is not caused by anything either the mom or dad did before the child was born. Anyone can have a baby with Down syndrome. But the older the mother, the greater the risk of having a baby with Down syndrome.
About one out of every 800 babies born has DS, no matter what race or nationality the parents are. It is not contagious, so you cant catch it from someone else. Its impossible to get DS after you are born.
The most common type of Down syndrome is called trisomy 1. About 5% of people with DS have trisomy 1.With this type of DS, the child is born with an extra chromosome. He has 47 chromosomes instead of 46. Instead of having two number 1 chromosomes, he has three of them.
Because people with DS are born with an abnormal number of chromosomes, there is no cure for Down syndrome. It is something they will have all their lives.
At one time, most children with DS did not live past childhood. Many would often become sick from infections. Others would die from their heart problems or other problems they had at birth.
Today, most of these health problems can be treated and most children with DS grow into adulthood. Medicines can take care of many of their infections. Surgery can correct heart, stomach, and intestinal problems. There are medical treatments for leukemia. Someone with DS has a good chance of living to be 50 years old or more.
Many kids with DS are in regular classes. Some need special classes to help them in areas where they have more trouble learning. Their parents work with teachers and others to come up with a plan for the best way for each child to learn. The whole idea is to take advantage of their strengths and help them in the areas where they have weaknesses.
With this extra help, kids with DS can grow up to do many of the things kids without DS can do. Some will live in special homes with other people who sometimes need extra help.
Sometimes, other kids may want to bully someone with DS just because hes different. But kids with Down syndrome are just like anybody else. They go to school, play sports, and have friends. They can feel happy, sad, silly,angry, and lots of other emotions, like other kids do. When they get teased, it hurts their feelings as it would anyone else. They want to be accepted just like everyone else does.
A kid with DS is just another kid, but one who might have a few extra problems to deal with. And sometimes - just like you - what they need most is a helping hand and a friendly word of encouragement
Turner syndrome
Turner Syndrome is one of the rare diseases that affect only women. It is caused by abnormalities in one of the X chromosomes, and has a number of symptoms, including short stature and the presence of a webbed neck.
While Turner syndrome symptoms may be apparent at birth, the condition often isnt diagnosed until puberty. The characteristic short stature may be overlooked, and the girl is just presumed to be shorter than average. As with other rare diseases, most people have never heard of Turner Syndrome, so the warning signs are often missed.
So, out of all the rare diseases, why are men immune to Turner Syndrome?
Humans have pairs of chromosomes, which contain all of our genetic information. Men are distinguished from women by having one pair of chromosomes consisting of a single X and a single Y chromosome. Women on the other hand normally have two X chromosomes.
In women suffering from Turner Syndrome, some of the genetic material on one of these chromosomes is missing, or an entire X chromosome may be missing. The exact cause of the disease isnt known but it is thought to be a random occurrence affecting approximately one out every ,000 live female births.
Male fetuses that miss the X chromosome dont survive. A Y chromosome cant function on its own. A single X chromosome can survive, however, and the resulting child is a girl with Turner Syndrome.
These are the observable signs of Turner Syndrome
• short stature
• webbed neck
• lack of secondary sex characteristics
• a hollow appearance to the chest
• lack of menstruation
• low hairline
• droopy eyelids.
If you have Turner Syndrome, or know someone who does, chances are youre already aware of the physical symptoms of the disease short stature and a webbed neck are the most common symptoms. This site offers a more in-depth examination of Turner Syndrome. It explains what many of the hidden symptoms are, and possible health problems that arise from the disease.
While there is no known cure for Turner Syndrome, some medical interventions can help, and the site covers those too.
Huntington disease
HUNTINGTON DISEASE (HD) is an inherited, degenerative neurological disease that leads to dementia. About 0,000 Americans have HD and about 150,00 more are at risk of inheriting the disease from a parent.
The HD gene, whose mutation results in Huntington disease, was mapped to chromosome 4 in 18 and cloned in 1. The mutation is a characteristic expansion of a nucleotide triplet repeats in the DNA that codes for the protein huntingtin. As the number of repeated triplets - CAG(cytosine, adenine, guanine) - increases, the age of onset in the patient decreases.
Furthermore, because the unstable trinucleotide repeat can lengthen when passed from parent to child, the age of onset can decrease from one generation to the next. Since people who have those repeats always suffer from Huntington disease, it suggests that the mutation causes a gain-of-function, in which the mRNA or protein takes on a new property or is expressed inappropriately.
With the discovery of the HD gene, a new predictive test was developed that allows those at risk to find out whether or not they will develop the disease. Animal models have also been developed, and we know that mice have a gene that is similar to the human HD gene. Research on understanding the mechanism that causes the triplet repeat to increase is ongoing, since its discovery could be critical to the development of an effective treatment for this and other similar diseases.
Autosomal Diseases
PCB 106
800AM T/TH
066-8-4
Down syndrome
Down syndrome or DS, is one of the most common genetic causes of mental retardation or developmental delay. That means it is caused by a problem with a persons chromosomes, on which the genes that make each person unique are located.
People with DS are usually mildly to moderately mentally retarded. Some are developmentally delayed and some are severely retarded. Each person with DS is different.
Babies with DS tend to develop more slowly than other babies do. They may start walking later than other babies. When they are grown, they tend to be smaller than the other members of their family and they may be a little stocky or heavy.
Many people with DS have eyelids that may be slanted upward. They may have small folds of skin at the inside corners of their eyes. Their noses may be somewhat flat and their ears may be small and shaped abnormally. They may have a large space between the big toe and the second toe.
Children who are born with DS are also more likely to have certain health problems. They are more likely to get infections, such as respiratory illnesses (problems with lungs and breathing). When they do get infections, they often last longer. They may have eye or ear problems or digestion problems like constipation. Some babies with DS may have problems in their stomachs or intestinal blockage that prevent them from digesting food properly.
About half are born with heart defects, which means there is something different with the way their heart developed. Some develop leukemia, a type of cancer. But each person with DS is different and may have one, several, or all of these problems.
Down syndrome is caused by, having an increased number of chromosomes. Normally, there are pairs of chromosomes. Half of the pair is from the mother and half are from the father.
Down syndrome is not caused by anything either the mom or dad did before the child was born. Anyone can have a baby with Down syndrome. But the older the mother, the greater the risk of having a baby with Down syndrome.
About one out of every 800 babies born has DS, no matter what race or nationality the parents are. It is not contagious, so you cant catch it from someone else. Its impossible to get DS after you are born.
The most common type of Down syndrome is called trisomy 1. About 5% of people with DS have trisomy 1.With this type of DS, the child is born with an extra chromosome. He has 47 chromosomes instead of 46. Instead of having two number 1 chromosomes, he has three of them.
Because people with DS are born with an abnormal number of chromosomes, there is no cure for Down syndrome. It is something they will have all their lives.
At one time, most children with DS did not live past childhood. Many would often become sick from infections. Others would die from their heart problems or other problems they had at birth.
Today, most of these health problems can be treated and most children with DS grow into adulthood. Medicines can take care of many of their infections. Surgery can correct heart, stomach, and intestinal problems. There are medical treatments for leukemia. Someone with DS has a good chance of living to be 50 years old or more.
Many kids with DS are in regular classes. Some need special classes to help them in areas where they have more trouble learning. Their parents work with teachers and others to come up with a plan for the best way for each child to learn. The whole idea is to take advantage of their strengths and help them in the areas where they have weaknesses.
With this extra help, kids with DS can grow up to do many of the things kids without DS can do. Some will live in special homes with other people who sometimes need extra help.
Sometimes, other kids may want to bully someone with DS just because hes different. But kids with Down syndrome are just like anybody else. They go to school, play sports, and have friends. They can feel happy, sad, silly,angry, and lots of other emotions, like other kids do. When they get teased, it hurts their feelings as it would anyone else. They want to be accepted just like everyone else does.
A kid with DS is just another kid, but one who might have a few extra problems to deal with. And sometimes - just like you - what they need most is a helping hand and a friendly word of encouragement
Turner syndrome
Turner Syndrome is one of the rare diseases that affect only women. It is caused by abnormalities in one of the X chromosomes, and has a number of symptoms, including short stature and the presence of a webbed neck.
While Turner syndrome symptoms may be apparent at birth, the condition often isnt diagnosed until puberty. The characteristic short stature may be overlooked, and the girl is just presumed to be shorter than average. As with other rare diseases, most people have never heard of Turner Syndrome, so the warning signs are often missed.
So, out of all the rare diseases, why are men immune to Turner Syndrome?
Humans have pairs of chromosomes, which contain all of our genetic information. Men are distinguished from women by having one pair of chromosomes consisting of a single X and a single Y chromosome. Women on the other hand normally have two X chromosomes.
In women suffering from Turner Syndrome, some of the genetic material on one of these chromosomes is missing, or an entire X chromosome may be missing. The exact cause of the disease isnt known but it is thought to be a random occurrence affecting approximately one out every ,000 live female births.
Male fetuses that miss the X chromosome dont survive. A Y chromosome cant function on its own. A single X chromosome can survive, however, and the resulting child is a girl with Turner Syndrome.
These are the observable signs of Turner Syndrome
• short stature
• webbed neck
• lack of secondary sex characteristics
• a hollow appearance to the chest
• lack of menstruation
• low hairline
• droopy eyelids.
If you have Turner Syndrome, or know someone who does, chances are youre already aware of the physical symptoms of the disease short stature and a webbed neck are the most common symptoms. This site offers a more in-depth examination of Turner Syndrome. It explains what many of the hidden symptoms are, and possible health problems that arise from the disease.
While there is no known cure for Turner Syndrome, some medical interventions can help, and the site covers those too.
Huntington disease
HUNTINGTON DISEASE (HD) is an inherited, degenerative neurological disease that leads to dementia. About 0,000 Americans have HD and about 150,00 more are at risk of inheriting the disease from a parent.
The HD gene, whose mutation results in Huntington disease, was mapped to chromosome 4 in 18 and cloned in 1. The mutation is a characteristic expansion of a nucleotide triplet repeats in the DNA that codes for the protein huntingtin. As the number of repeated triplets - CAG(cytosine, adenine, guanine) - increases, the age of onset in the patient decreases.
Furthermore, because the unstable trinucleotide repeat can lengthen when passed from parent to child, the age of onset can decrease from one generation to the next. Since people who have those repeats always suffer from Huntington disease, it suggests that the mutation causes a gain-of-function, in which the mRNA or protein takes on a new property or is expressed inappropriately.
With the discovery of the HD gene, a new predictive test was developed that allows those at risk to find out whether or not they will develop the disease. Animal models have also been developed, and we know that mice have a gene that is similar to the human HD gene. Research on understanding the mechanism that causes the triplet repeat to increase is ongoing, since its discovery could be critical to the development of an effective treatment for this and other similar diseases.
Bibliograhies
Reviewed by Charlotte E. Grayson , MD, January 00
Coleman, Mary and Rogers, PT. Medical Care in Down Syndrome A Preventative Medicine Approach. Marcel Dekker, Inc, NY, 1.
Korenberg, JR et al. Down syndrome phenotypes The consequences of chromosomal imbalance. Proc. Natl. Acad. Sci. USA, 1 47-5001, 14.
Patterson, D. The integrated map of human chromosome 1. In Etiology and Pathogenesis of Down Syndrome, Wiley-Liss, 15, p 4-55.
Hernandez D and Fisher EMC. Down syndrome genetics unravelling a multifactorial disorder. Hum. mol. Genet., 5 1411-1416, 16.
Shapiro, BL. Whither Down syndrome critical regions? Hum Genet 41-4, 17.
Pediatric Research, 50(), 417-4. Retrieved December 6, 00
This site debuted on December 5, 15 and the site was last updated on February , 001.
http//www.neurologychannel.com/huntingtons/
Critical Reviews in Neurobiology. 8()15-6, 14.
Lindvall, O. Neural transplantation. Cell Transplant, 15 Jul-Aug; 4 (4) -400.
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