What is it?

Canavan Disease is a rare, neurological, genetic disorder of the group of leukodystrophies. Leukodystrophy is a situation that damages the myelin sheath, which is the external layer of the neuron. The myelin is critical for the neuron’s ability to send and receive nerve impulses. The neonatal Canavan disease is the most common and severe form of the condition. These infants, when turned 3-5 months, developmental problems begin such as motor delay and hypotonia, feeding and swallowing difficulties, seizures and sleep disturbances. These infants usually don’t live a long life, and survive only into childhood or adolescence. Another form of the disease in the mild or juvenile form, which is less common and mild. During childhood, these children develop speech and motor developmental delays, often mild ones. Sometimes these children will never be diagnosed with Canavan disease. The disease is caused by a mutation in the ASPA gene which plays a role in making the enzyme called aspartoacylase. This enzyme breaks a compound found in brain neurons called NAA. In this disorder, NAA builds up in the brain and results in progressive destruction of myelin and other signs and symptoms of the disease.