The Canavan disease is a rare genetic disorder where the myelin in the brain and spinal cord degenerates. It must be inherited from both parents, who are carriers of a mutation in the same gene. Infants with Canavan disease experience developmental delays, weak muscle tone, difficulty swallowing, and risks of seizures and blindness. There is no cure, though treatments can help slow progression. Life expectancy is usually between 3-10 years without treatment and up to the twenties with mild cases. Testing is available to determine if one is a carrier and at risk of passing on the gene.

1. CANAVAN DISEASE
Danielle Beck
Per 7

2. What is it?
The Canavan disease is developed as an infant.
The Canavan disease is when the myelin which covers
the nerve cells in the brain and spinal cord degenerate.

3. How it Happens
The myelin in the brain degenerates, which coats the
nerve cells and the spinal cord, without myelin the
body can’t perform things like swallowing.

4. Inheritance
To have the Canavan disease it must be inherited from
both parents.
It is when both parent’s copy of the gene has a cell
mutation.

5. Effects
Infants will have a delay in certain progress, like turning over,
being able to sit up without support and even turning their
head.
Infants have a large head (macrocephaly) and weak muscle
tone (hypotonia).
They can have eating problems and difficulties swallowing and
have a risk of getting seizures.
It causes blindness and inability walk.

6. Carrier
There is no cure for the Canavan Disease, a way to
prevent it is to see if you are a carrier.
To test if you are a carrier, you can go to a physician or
a OB/GYN if your test result that you are a carrier it is
recommended to see if your gene would show up in
your offspring.
If both parents are a carrier of the gene there is a one
in four chance that the child would have the disease.

7. Treatment
Physicians recommend to take lithium which will slow
down the progression of the Canavan disease.
Foundations like Jacob’s Cure are searching for
treatments that can slow down the disease even more.

8. Death
People with the canavan disease do not live long lives,
people with a mild case can live until their twenties
but, if you have a aggressive case then you would be
lucky to live until four.
A person untreated and depending on how aggressive
the case is only lives from three to ten years.

9. Sources
http://www.ncbi.nlm.nih.gov/pubmedhealth/
PMH0002553/
http://jacobscure.org/canavan-disease.php
http://www.canavandiseases.com/who-does-canavan-
disease-affect.php