Children with Canavan disease are mentally retarded and most will never be able to sit, stand, walk or talk, although they may learn to laugh and smile and reach for objects.
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
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
mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone, paralysis, blindness, or seizures may occur.
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
No