- The disease is usually life threatening.
- Infants with early-onset cases die before age 2. People who develop the disease at a later age have survived into adulthood with nervous system disease.
- One of the systoms "Failure to thrive" include: height, weight, and head circumference that do not match standard growth charts. Physical skills such as rolling over, sitting, standing and walking, mental and social skills, and secondary sexual characteristics are delayed or slow to develope.
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a child with the physical appearances of the disorder
The most distinctive symptom is the Kayser-Fleisher ring (a brown ring around the cornea of your eye.)
In July of 2005, Branden Miller was diagnosed at nine months with a terminal disease known as Krabbe Leukodystrophy
Gentic disorders are mutations caused by abnomality in a persons DNA. These types of disorders are extremly rare and only a handful are affected in the entire world.
Hemophilia
a child with the physical appearances of the disorder
About Me
- Bria Carter
- Hi everyone! :) It's Bria Carter. This is my blog site about genetic disorders... but you'll be learning more in depth about three specific disorders that i hand picked myself ;). Anyway my loves, Im 15. Im a freshman at P.Ridge. And I'm a student in Mrs. Walton's 3rd block biology class. Peace&Love [Bria N. Carter)
Wilsons Disease
The most distinctive symptom is the Kayser-Fleisher ring (a brown ring around the cornea of your eye.)
Krabbe Disease
In July of 2005, Branden Miller was diagnosed at nine months with a terminal disease known as Krabbe Leukodystrophy
Hemophilia
Hemophilia is a bleeding disorder that causes blood to take a longer time to clot than usual. The main symptom is bleeding; in serious cases it may occur for no reason. Other symptoms include: easy bruising, frequent nosebleeds, blood in the urine, and bleeding after dental work. It is more common for males to get this disorder than females about 1 in every 4,000 males around the world are born with Hemophilia A. One in every 20,000 males are born with Hemophilia B. Hemophilia A and Hemophilia B are inherited in an X-linked recessive pattern. Males are affected by X-linked recessive disorders much more frequently than females. Treatment is usually done by replacing the absent or abnormal clotting factors.
A person CANNOT be born with Hemophilia
Hemophilia is most common in females.
Hemophilia is carried on the Y chromosome
Wilsons Disease
Wilson disease is a genetic disorder that prevents the body from getting rid of extra copper. You need copper to stay healthy, but too much can be harmful. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of the child with an autosomal recessive condition each carry one copy of the mutated gene. In Wilson disease, copper builds up in the liver, brain, eyes, and other organs. Over time, high copper levels can cause life-threatening organ damage. About one in 40,000 people get Wilson disease; from ages 2 through 72. The symptoms can be different depending on where the buildup of copper is taking place.... Liver symptoms: swelling of the liver or spleen, jaundice (yellowing of the skin and whites of the eyes) , fluid buildup in the legs or abdomen, a tendency to bruise easily and fatigue. Central Nervous System: problems with speech, swallowing, physical coordination, tremors or uncontrolled movements, muscle stiffness, behavioral changes, and other symptoms include: anemia, low platelet or white blood cell count, slower blood clotting, high levels of amino acids, protein, uric acid, and carbohydrates in urine, premature osteoporosis and arthritis.
Wilson disease requires lifelong treatment. With proper diagnosis and treatment, the progress of the disease can be stopped and symptoms may improve. It is nessasary to have the excess copper removed, reduce copper intake, and have aditional treatment done for any liver or central nervous system damage
Wilson disease requires lifelong treatment. With proper diagnosis and treatment, the progress of the disease can be stopped and symptoms may improve. It is nessasary to have the excess copper removed, reduce copper intake, and have aditional treatment done for any liver or central nervous system damage
Where are the two places where there is copper build up?
Is there any treatment to terminate Wilson Disease?
How common is Wilsons Disease?
Krabbe Disease
Krabbe Disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare genetic disorder of the nervous system. It is cause by a mutation of the GALC gene. Due to this your body does not make enough galactocerebroside beta-galactosidase. That is the substance used to make myelin, without it brain cells die, and nerves in the brain and other body areas do not work properly. This disease is also recessive, autosomal, and begins in infancy.
Systoms include: severe seizues, unexplained fevers, vision loss and vomiting. There is no treatment for this disease. All races are equally affefted and it is most common for babies to get this disease. About 1 in every 100,000 people are diagnosed with this disease.
Systoms include: severe seizues, unexplained fevers, vision loss and vomiting. There is no treatment for this disease. All races are equally affefted and it is most common for babies to get this disease. About 1 in every 100,000 people are diagnosed with this disease.
Just wondering how many people have it in the United States?
ReplyDeleteHow long would a person with this disease live?
ReplyDeleteMitch,
ReplyDeleteKrabbe Disease occurs in about 1 in 100,000 births in the United States... I'm not sure exactly how many people are living with it at the moment.. but theres an idea.
Ryan,
ReplyDeleteThe average life span is only 14 months; the longest living child with the disease died when he was eight.