Where is Canavan Disease located on the chromosome?
Aspartoacylase is another name for Canavan Disease. It is also known as ASPA. The trait for Canavan disease
is located on the short part of chromosome 17 near the tip farther away from the centromere. See the picture to the right.
What happened? Why does this organization exist?
When I was just four years old, my parents tried to have a second child,
but, unfortunately, they both are carriers of this disease, even though neither of them inherited the disease. When both of
the parents carry the disease, the child has a one in four chance of getting this terrible disease, and my little brother
was that unlucky one. My sister, Kelsey, and I have started this organization to raise money for people that have inherited
disease and for their families. Our goal is to raise $100,000 for the research for treatments and possibly a cure. It is a
good cause, please support us!
About Canavan Disease
Canavan Disease is a disorder when the
white matter of the brain deteriorates into porous spongy tissue that is filled with fluid.
The white matter deteriorates because the person whom it infects has a lack of the enzyme aspartoacylase which
leads to another chemical, called N-acetyl-asparctic acid. They create chemical inbalances and cause the destruction of myelin,
but it is not known why.
How can I test for this disease?
If you want to know if you carry the defective gene, there are many ways of getting tested. You can take a
prenatal bloodtest that checks for the missing enzyme and mutations in the gene. You can also take a simple blood test or
a mouthwash test to see if you are a carrier.
So what can I do to treat Canavan Disease?
There is nothing that you can do for Canavan disease. It is not treatable or curable. You can only support
your child when she/he gets this inevitably fatal disease.
What are some symptoms of Canavan Disease?
A baby (around 3-9 months old) with canavan disease is not able to perform simple motor tasks, and shows inattentiveness
visually. Another common symptom that most babies that have canavan disease will not have much muscle tone and they cannot
control how their head moves. As the child grows, its motor skills and it eventually becomes blind, but its hearing remains.
Children with canavan disease will respond to their caretakers. However, difficulties arise when the child grows and stiffness,
seisures, muscle weakness, and feeding problems occur.
Who
is most likely to get this Disease?
Descendants of Central and Eastern European Jews are most likely to get Canavan Disease. One in 300 Ashkenazi
Jews obtain it.
How is Canavan Disease passed down?
Canavan disease is an autosomal recessive disease in which both parents have to be carriers of the disease
to have a chance of passing it down. If both parents are carriers, the child has a one in four chance of actually getting
Canavan Disease, a two in four chance that she/he will be a carrier of this disease, and a one in four chance that she/he
will not carry or have this disease. There is a picture below the works sited of what I just explained.
Works
Cited:
