Canavan disease is an autosomal recessive genetic condition
A person with Canavan disease has changes (mutations) in both of the genes responsible for producing the enzyme aspartoacylase
Signs of Canavan disease normally become apparent around 6 months of age when an infant is not meeting normal milestones such as holding up his/her head. The lifespan for children with Canavan disease is generally 3-10 years if untreated, although some children have lived into their twenties.
Sexlinked and recessive.
# They are SO numerous: Angelman's syndrome, Huntington's Disease, Hemophilia, Turner Syndrome, Tay-Schs disease, sickle cell anemia, Praeder-Willi Syndrome, neurofibromatosis, Klinefelter syndrome, phenylketonuria, Down's Syndrome, Cystic Fibrosis, celiac disease, color blindness, cri du chat, Canavan disease, Duchenne muscular distrophy, Charcot-Marie Tooth Disease, 22q11.2 deletion syndrome, achondroplasia and many, many more.
Canavan disease is named after Dr. Myrtelle Canavan
Canavan disease is an autosomal recessive genetic condition
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
Some people with Canavan disease may eventually become blind
People with Canavan disease typically have disproportionately large heads
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
A person with Canavan disease has changes (mutations) in both of the genes responsible for producing the enzyme aspartoacylase