Canavan Disease is a cerebral degenerative disease. It is a gene related disorder that occurs in birth. The white material in the brain becomes spongy and fluid fills the gaps. The disease affects the person’s myelin sheath, fibers that protect nerve endings, resulting in neurological breakdown. Symptoms progress rapidly and include mental retardation, loss of or undeveloped motor skills, swallowing difficulties, and floppy lucid movement of the extremities and neck. It can also result in vision loss, paralysis, and hearing problems.
The disease tends to be ethnic related targeting Ashkenazi Jews and Saudi Arabians. The gene is only transferred when both parents are carriers. It can be detected early through blood tests. Prognosis for the outcome of the disease is very poor. Children with this disease usually die before they reach 4 years of age.
Canavan Disease was diagnosed by Myrtelle Canavan in 1931.
The Canavan Foundation is an organization that has been developed to help provide information and research regarding the disease.
Other names for the disease include Van Bogaert-Bertrand disease, and
aspartoacylase deficiency.
No comments:
Post a Comment