By Garcelle.Herke Period 3 Achondroplasia (Dwarfism)
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Transcript of By Garcelle.Herke Period 3 Achondroplasia (Dwarfism)
By Garcelle.HerkePeriod 3
Achondroplasia(Dwarfism)
How does a person inherit it?
It occurs as a sporadic mutation in about 85% of cases
May be inherited in an autosomal dominant genetic disorder.
What are the possible genotypes of the parents?
If both mom and dad have RR then they there
will be 100% the child will have dwarfism.
If both parents are Rr then there will be a 75%
the child will have dwarfism.
If the mom is Rr and the dad is rr then there at
least 50% of their children will have dwarfism.
How prevalent is the disease in the population?
The most common type of dwarfism would be achondraplasia.
Approxiamiatley 10,000 individual are said to have achondraplasia in the United
States.It affects about 1 in 40,000 childrenApproximiatley 150,00 people have
achondroplasia worldwide.80% of all “Little people” have
achondroplasia.
What are the chances of a person with this disease passing the disease to
their offspring?A person who has
dwarfism has a 50% chance of passing on
that gene to their offspring.
If two people who have dwarfism have a child, their child
has a 25% chance of dying shortly after birth, 50% they will get dwarfism, and a 25% they will have
an average phenotype.
How is the disease diagnosed?
It can be detected before birth by the use of prenatal ultrasound.
DNA test can be used to detect homozygosity, where in two copies of the
mutant gene are inherited a lethal conditional leading to stillbirths.
What are the physical symptoms of the disease?
The child would have a long and narrow torso with short
arms and legs.The head would be typically
larger than the body.With walking the, the hump goes away of the lower back
becomes obvious.The baby exhibits decrease in
muscle tone.A male would be about 52 inches and an adult female
would average about 49 inches.
What is the life expectancy of someone with the
disease?
It is approximately 10 years less then a person with an average height.
How can the disease be treated?
There is still no known treatment for achondroplasia.
Though there are human growth hormones, but they do not work for people
with achondroplasia.There is a controversial surgery of limb
lengthening will lengthen the arms and legs of someone with achondroplasia.
What are some new treatments or research that is going on for the disease?
There are no new treatments for achondroplasia besides trying to keep those who do have under control with weight and
middle ear infection management. In severe cases there is surgery available for strengthening and correcting deformed
bones.
Personal
Little people can do just about everything we can do, but they just have to alternate to their height.
They can do some exercises like average height people can like running they have to go slow with
that, but they still do sports.An organization that helps people with
achondroplasia is the Little people of America.(http://web.memberclicks.com/mc/page.do?sitePageId=37298&orgId=lpa
)Right now there is still no cure on achondroplasia, but there are a lot of organizations such as LPA that
help people with dwarfism cope with what they have.
Bibliography
http://en.wikipedia.org/wiki/Achondroplasia
http://biodwarfism.blogspot.com/2009/02/what-are-possible-genotypes.htmlhttp://emedicine.medscape.com/article/1258401-overview
http://en.wikipedia.org/wiki/Dwarfismhttp://www.buzzle.com/articles/achondroplasia-causes-symptoms-and-
treatments.html