Achondroplasia Power Point<br />BY: Logan DeLuca & Jacob Hodgson<br />
What is the disease? <br /><ul><li>Our disease is achondroplasia
This is a disease that is usually found in about 70% of midgets
The disease is a bone shorting disease and is usually due to the cartilage that can reach the bones in such long places as the arms and legs, this is also classified as a type of dwarfism
This is also an autosomal dominant genetic disorder
An autosomal dominant genetic disorder is an illness in the genes and or chromosomes of a person’s body in which the person will have some kind of genetic mutation to their body </li></li></ul><li>How is it inherited?<br /><ul><li>There are three possible ways for the child to inherit achondroplasia out of the punnet square</li></ul>The first is one of the parent have the disorder and the other does not the disorder the child possibilities would be 50% normal child and 50% small child<br />Second would be if both parents are little people the results would be a 50% of a child with the disorder, a 25% of a normal child, and a 25% of a child being a miscarriage<br />Third is when two tall people have a small child, 75% of small people living today are small because this happened to their parents<br /><ul><li>This process is known as a new mutation
This occurs when the sperm develops into a carrier and now one of the parents is considered a carrier
The disease is not sex linked because both men and woman can carry the disease </li></li></ul><li>What are the symptoms?<br /><ul><li>Abnormal hand appearance
The picture is of a baby with bowed legs a sign that may indicate he has achondroplasia </li></li></ul><li>How is the disease tested or diagnosed<br /><ul><li>The disease is usually diagnosed at birth and shows signs of the symptoms listed before even in the stage of birth
If you have a family history of the disease or if you would have it, it is only a greater chance of inheriting the disease
Doctors now a days can determine this before birth by using a sonogram or an ultrasound examination machine
Doctors can also run DNA test to check for homozygosity both the alleles would be dominate and could lead to a miscarriage </li></li></ul><li>How often and who might get the disease?<br /><ul><li>Achondroplasia is a disease for anyone because</li></ul>Any kind of race can inherit the disease<br />Both male and female can inherit the disease<br />It does not matter if both sides of your family do not have the disease because both of your normal parents can have an offspring with the mutation, or a carrier of the mutation <br />According to Wikipedia the prevalence is approximately 1 in 25,000<br />According to Web MD 1 in every 10,000 births have achondroplasia<br />We do not know if any of these hypothesis are correct or not but these results were just a matter of test <br />
Is there any treatment for the disease?<br /><ul><li>There is not a cure found yet for achondroplasia
Doctors have been able to give some patients of achondroplasia a procedure called limb lengthening
Limb lengthening is a surgery in which a doctor can expand your legs, arms, or both of these by putting a brace like object into your leg that wraps around the entire leg in which over time the leg will lengthen out
Results will vary with ever patient but it is to be known before going into the surgery that it is going to be very painful and will have to work hard achieve results of the operation </li></li></ul><li>Other interesting information<br /><ul><li>Achondroplasia, which means "without cartilage formation", is a Greek word.
Acohndroplasia is part of a group of disorders called chrondrodystrophies.
80% of achondroplasia cases are caused by spontaneous mutations.
It is one of the most common of all skeletal dysplasias
Most Achondroplastics are double jointed, which is caused by loose ligaments.
Nine out of ten children with achondroplasia have normal sized parents
Achondroplastics seldom ever reach five feet high.
The greatest shortening occurs in the bone between the shoulder and elbow (humerus) and the bone between the hip and knee (femur)</li></li></ul><li>Story of someone who was the disease<br />Someone famous with achondroplasia is Jason Acuna. Most people know him for for his roles in the TV show and movies. He is also a professional skateboarder. He is 36 years old and is 4ft 0.5 inches tall. His story shows that even with his disease that you can still accomplish many task despite your height. <br />