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Progeria

Progeria is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life.
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Avana Brewington

on 9 August 2012

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Transcript of Progeria

Hutchinson-Gilford Progeria History Progeria was discoved by Jonathan Hutchinson in 1886. He documented the clinical features og a boy aged 6 years who had congenital absence of the hair and atrophy of the skin. Diagnosis How do you get Progeria ? In most cases Progeria is caused by mutations or genetic changes that occur for unknown reasons. Progeria is autosomal dominate disease that is genetic and incurable and unpreventable. This mutation changes a single DNA building block (nucleotide) in the gene. Specifically, the mutation replaces the nucleotide cytosine with the nucleotide thymine at position 1824 (written as C1824T). This mutation is also sometimes noted as Gly608Gly or G608G, which refers to the position in the lamin A protein affected by the mutation. The C1824T mutation leads to an abnormal version of the lamin A protein called progerin, which is missing 50 amino acids near one end. The condition results from new mutations in the LMNA gene. A specific mutation in the LMNA gene has been found in most patients with Hutchinson-Gilford progeria syndrome. This mutation changes a single DNA building block (nucleotide) in the gene. It usually shows up in family lines that never even had the dominant trait. A genetic test for LMNA mutations can confirm the diagnosis of progeria.
There's no cure for progeria. The only help that the children can receive is regular monitoring for managing your child's condition. Some children undergo coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular disease. Also some children do take medication like low-dose aspirin that may help prevent heart attacks and stroke. They usually take it on a daily dose Story of John Tacket Tell us about school.
I'm in the 8th grade. I go to public school and take the bus every day. It's "loaded" with kids! I kind of like school - It's a lot of work, but I like that my friends are there. What kinds of activities are you involved in?
I play street hockey, play drums, my dad and I have a knife collection, I belong to the roller hockey and floor hockey clubs, and the academic track club, which holds meets for lots of subjects, like math, science and drama. I really want to learn how to ice skate so I can play ice hockey. I also love to draw. What do you do with your free time?
Homework, playing drums, hanging out with my friends and watching TV. The Disney Channel is my favorite. Tell us about a typical day for you.
I'm up at 6:30 a.m., I go to school, then baby-sit my 9-year-old sister after school until my mom gets home from work. I also watch TV and play with friends after school and on weekends. What is your favorite thing to do?
Play drums, play street hockey and be with my family.
What is your least favorite thing to do?
Get up for school! How long have you known that you have Progeria?
As long as I can remember. What do you say to people who ask why you look different?
I tell them I have a disease called Progeria. What do you do or say to people who stare at you?
That bugs me a lot. I'd rather they come over and say hi and ask me directly rather than have them stare from a distance. I think it's rude to stare. Sometimes I wave to the kids, and they wave back. What are your biggest challenges physically?
It's hard to play basketball - I need a smaller ball and a shorter hoop, which I have at my house so a lot of times my friends come over to play basketball. Sometimes I get tired, but I just sit down for a couple of minutes and then I'm ready to go. A lot of times it's my friends that want to rest before I do! I have a hard time carrying a lot of books, so I leave 5 minutes early from my classes and go to my locker after every class to switch books for my next class. What would you like kids to know about you and other children who have Progeria?
We're no different; we do the same things other kids do. Don't be afraid to talk to us. If you were a parent of a child with Progeria, what would you say to your child as he/she begins to realize that he/she looks different?
I'd say yes, you're different but only on the outside. You can do anything you want and don't let anyone tell you any differently. And I would tell them to treat us the same as any child. What advice do you have for children with Progeria?
Keep going, follow your dreams. My dream is to be a studio drummer and advertising agent. Is there anything else you want to say to everyone reading this article?
We're just like any other kids, if we're four; we act like it, and so on with the age. Say hi to the next person you see with Progeria or to any kid who looks different. Muscular Dystrophy Children with progeria generally look normal at birth. By about two years of age, infants with progeria experience a failure to blossom, which includes slow growth and poor weight gain. Other symptoms include loss of body fat, loss of hair (alopecia), aged-looking skin, stiffness of joints, joint abnormalities and hip dislocation. Progeria doesn’t affect the children’s mind they are still intelligent and are a burst of bright energy. Muscular dystrophy is a group of inherited disorders that involve muscle weakness and loss of muscle tissue, which get worse over time. Muscular dystrophies, or MD, are a group of inherited conditions, which means they are passed down through families. They may occur in childhood or adulthood. Symptoms include:
-Mental retardation (only present in some types of the condition)
-Muscle weakness that slowly gets worse
-Delayed development of muscle motor skills
-Difficulty using one or more muscle groups
-Drooling
-Eyelid drooping (ptosis)
-Frequent falls
-Loss of strength in a muscle or group of muscles as an adult
-Loss in muscle size
-Problems walking (delayed walking) There are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms. Phenylketonuria (PKU) Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.
Other symptoms may include:
•Delayed mental and social skills
•Head size significantly below normal
•Hyperactivity
•Jerking movements of the arms or legs
•Mental retardation
•Seizures
•Skin rashes
•Tremors
•Unusual positioning of hands Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait. PKU can be easily detected with a simple blood test. All states in the US require a PKU screening test for all newborns as part of the newborn screening panel. The test is generally done by taking a few drops of blood from the baby before the baby leaves the hospital.

If the initial screening test is positive, further blood and urine tests are required to confirm the diagnosis. PKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health. “Diet for life” has become the standard recommended by most experts. This is especially important before conception and throughout pregnancy. In 1934, a doctor in Norway named Asbjorn Folling noticed that several mentally retarded patients had a strange odor. He figured out that it was from something called "phenylacetic acid." The patients' urine also had a very high level of a chemical called "phenylketone." That is how the disease got its name, phenylketon-uria. In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of thirteen boys with the most common and severe form of the disease, which now carries his name—Duchenne muscular dystrophy. Sickle Cell Anemia In 1904 sickle cell anemia was discovered by James B. Herrick. He was a Chicago cardiologist and professor of medicine. Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape. (Red blood cells are normally shaped like a disc.) Sickle cell anemia can be diagnosed by a simple blood test, done at any time during a person's lifespan; it can be detected whether he or she has sickle hemoglobin. A person can receive sickle cell anemia if both parents have the trait There is not a cure for sickle cell anemia but there are different types of medication for the patient to relieve pain, prevent infections, organ damage, and strokes. Also the medication helps control any other complications. Pain is usually treated with heating pads, rest, and plenty of fluids. Sickle cell anemia is present at birth, but many infants don't show any signs until after 4 months of age.
But the most common signs are
•Fatigue
•Shortness of breath
•Dizziness
•Headaches
•Coldness in the hands and feet
•Paler than normal skin or mucous membranes (the tissue that lines your nose, mouth, and other organs and body cavities)
•Jaundice (a yellowish color of the skin or whites of the eyes) Color Blindness Color blindness is the deficiency is the inability or decreased ability to see color, or perceive color differences, under lighting conditions when color vision is not normally impaired. John Dalton discovered color blindness in 1792 when he perceived a flower as being blue when it was actually pink. The first major study was published in 1794. Symptoms vary from person to person, but may include:
•Trouble seeing colors and the brightness of colors in the usual way
•Inability to tell the difference between shades of the same or similar colors There is no known treatment. However, there are special contact lenses and glasses that may help people with color blindness tell the difference between similar colors. Are you colorblind ? HEMOPHILIA The Jews were first to recognize hemophilia but it was mainly discovered by John Conrad in 1803. . Hemophilia is an inherited bleeding disorder that almost always affects males. A person with hemophilia has low or non-existent levels of blood clotting protein called factor. Hemophilia is carried by women and passed down to their sons. There are three types of hemophilia:
Hemophilia A: This person has low levels of or is missing completely factor 8 (Also called FVIII or factor VIII deficiency) 80% of people with hemophilia have Type A Hemophilia. Factor VIII deficiency usually only manifests in males.
Hemophilia B: This person has low levels of or is missing completely factor 9 (Also called FIX or factor IX deficiency) 20% of people with hemophilia have Type B Hemophilia. Factor IX deficiency usually only manifests in males.
Hemophilia C: This person has low levels of or is missing completely factor 11 (Also called FXI or factor XI deficiency) Hemophilia C is 10 times rarer than type A. Factor XI deficiency is different because it can show up in both males and females. An inherited sex-linked recessive trait is Hemophilia. The gene responsible for this is positioned on the X chromosome. The common symptoms for hemophilia are: bruising, spontaneous bleeding, bleeding into joints and pain and swelling, gastrointestinal tract and urinary tract hemorrhage, blood in the urine or stool, excessive and prolonged bleeding from cuts, tooth extraction, surgery bruises that are unusual in location or number, nosebleeds that won't stop, and painful or swollen joints Medical practitioners analyze hemophilia by performing a set of blood tests. Coagulation studies involving many tests are performed if the person tested is the first one in the family to have a bleeding disorder. After being identified the defect rest of the family members need not be tested for this disorder. There is no cure for hemophilia but they continue to stop the speed of this disorder by using different types of medications. There is a treatment where the gene can be linked to hemophilia and be identified and then replaced, using products derived from human blood : In one type of test, you look at sets of colored dots and try to find a pattern in them, such as a letter or number. The patterns you see help your doctor know which colors you have trouble with Then in the next test you arrange colored chips in order according to how similar the colors are. People with color vision problems cannot arrange the colored chips correctly.
Colorblindness trait can be found on the Y chromosome. It is not sex-linked but it is hereditary. Websites:) http://www.hemophilia-information.com/history-of-hemophilia.html
http://www.hemophilia-information.com/what-is-hemophilia.html
http://www.allaboutvision.com/conditions/colordeficiency.htm
http://www.webmd.com/eye-health/tc/color-blindness-topic-overview
http://www.bing.com/health/article/mayo-MADS00324/Sickle-cell-anemia?q=sickle+cell+anemia&qpvt=sickle+cell+anemia
http://www.nhlbi.nih.gov/health/health-topics/topics/sca/
http://www.bing.com/health/article/mayo-MADS00936/Progeria?q=progeria&qpvt=progeria
http://www.progeriaresearch.org/
http://www.bing.com/health/article/medlineplus-MPphenylketonuria/Phenylketonuria?q=phenylketonuria&qpvt=pku
http://www.bing.com/health/article/mayo-MADS00200/Muscular-dystrophy?q=muscular+dystrophy&qpvt=muscular+dystrophy
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