Canavan Disease is a potentially fatal disease that affects the nerves due to a lack of the myelin enzyme. This progressively degenerative disease starts at infancy and its symptoms usually show up in the form of an abnormally shaped head as well as lack of control over head movement. Poor muscles strength and tone, as well as blindness and visual impairment are some of the other symptoms.
HOW IS CANAVAN DISEASE DIAGNOSED?
Canavan disease can be diagnosed by a simple prenatal blood test that screens for the missing enzyme for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child.
HOW IS CANAVAN DISEASE TREATED?
Canavan disease causes progressive brain atrophy.There is no cure nor is there a standard course of treatment. Treatment is symptomatic and supportive by a neurologist.
DID YOU KNOW?
Most of the affected children die by the age of 10 and very rarely it is possible to live until teenagers.