Genetics Project 2010: Osteogenesis Imperfecta

Saturday, April 24, 2010

Osteogenesis Imperfecta

Just like regular teens, teens with OI struggle with self-esteem, self-confidence and friendships. Some teens with OI may be attracted to different types of dangerous behaviors, including drug or alcohol abuse in an effort to deal with with the challenges of being an adolescent.

No comments:

Post a Comment

Russell-Silver Syndrome

An estimation of seven to ten percent of patients with Russell-Silver Syndrome have a defect in chromosome number seven. UPD (uniparental disomy) In alot of people with this disorder's families have no history of it, and alot of times a cause is never found. It has been found to be autosomal recessive. Before you're even born, you get delays in your growth. Sometimes one side of your body grows much faster than the other. the characteristics of your face may turn out unusual. Your face looks like a triangle and your chin is unusually small. Immature bone growth developes even after birth. You may even get coffee colored patches all over your body. Thier is no definite cure. Physical therapy and special education can help after the patient has been diagnosed. the sooner you know you have the disorder, the better. It effects new borns, up to your entire life. Some say it effects one in every three-thousand, some say it is one in every hundred thousand.

Osteogenesis Imperfecta

This disease causes extremely fragile bones. Average patients may have blue sclera, early hearing loss, and multiple bone fractures. More Severe patients may have Kyphosis (stiffness of the spine) or even Scoliosis. Thier is no definite cure, but specific therapies that can reduce the pain of living with Ol. Bisphosphonates are drugs used to treat Osteoporosis, but help Ol greatly. It is usually caused by a defect in the gene that makes type one collagen (an important bone building block) It is an autosomal dominant disease. It occurs with an equal amount among males and females of all races and ages. 20-50,000 people in America have been affected with Ol.

Progeria

This is an extremely genetic disease. This disease makes your body accelerate much faster than it is supposed to. This means your body appears as if you are getting much older much faster. About eight times faster. They are born wit hit and usually die around age 13 from either stroke or heart attack. Their is no cure. This is a dominant disease that is a sporatic mutation. It effects one in eight million people. It can be discribed as dwarfism, small face and jaw compared to your head, delayed tooth formation, stiff joints, wrinkled or aged skin, and cardiovascular problems. Children of all races have been effected, but 97% are white males. Most cases have been found from the arise from the substitution of only one base pair among the 20,000 DNA base pairs that make up the LMNA gene.

Genetics Project 2010

About Me

Russell-Silver Syndrome

Osteogenesis Imperfecta

Progeria

Saturday, April 24, 2010

Osteogenesis Imperfecta

No comments:

Post a Comment

Russell-Silver Syndrome

what age group is likely to get this disease?

Which chromosome does this disease effect?

Is their a cure?

How many people have been diagnosed with this disease?

Osteogenesis Imperfecta

Are their specific treatments that may help?

What is the main sign of the disease?

Is their a definite cure

What is a short version of Osteogenesis?

Progeria

What is the approximate age that people with Progeria usually die?

What is the usual cause of death?

What mutation happens?

Who gets effected?

Followers

Blog Archive

Russell-Silver Syndrome Link List

Osteogenesis Imperfecta Link List

Progeria Link List