Canavan deteriorates the white matter (myelin) in the brain. White matter is responsible for forming a protective coating around every nerve in the brain and spinal cord to ensure that nerve impulses are properly transmitted from one part of the body to another. Without myelin, the body cannot perform normal motor skills, can become increasingly stiff or floppy and suffers a multitude of symptoms including issues with swallowing, severe scoliosis and hip dislocations.
Canavan Disease is a genetic disease, which means both parents must be carriers of the gene in order to have an affected child. If both parents are carriers, there is a 25% chance of a child having Canavan, a 50% chance of the child being a carrier, and a 25% chance of the child not having the Canavan gene at all.
Canavan disease is named after Dr. Myrtelle Canavan
Dr. Myrtelle Canavan
Canavan disease is also called aspartoacylase deficiency
It was not until 1949, that Canavan disease was recognized as a unique genetic disease by Van Bogaert and Betrand
People with Canavan disease typically have disproportionately large heads
Some people with Canavan disease may eventually become blind
DNA testing is the only means of identifying carriers of Canavan disease
I was doing a presentation on Canavan Disease and had a lot of trouble finding wether it was dominant or recessive. I found the answer and thought i should make it easier for others. Canavan Disease is recessive
Most infants with Canavan disease appear normal for the first month of life
People of Saudi Arabian descent also have a relatively high risk of Canavan disease
The credit went to Dr. Canavan because his initial description of the disease dominated the medical literature
its ressesive