Canavan Disease

Canavan disease is a rare inherited, degenerative disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.

Neonatal/infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.

Life expectancy may have a wide range. Historically, many children survived just a couple of years, but as treatment of symptoms and early diagnosis has progressed, many children are living much longer.

Dylan lived until he was almost 10, but there are many who are surviving into their teens or later.

LINKS

www.ntsad.org – National Tay-Sachs and Allied Diseases. This details a group of conditions which have some common aspects.

www.canavan.org –This is a site that discusses Canavan’s, and is primarily related to research.

http://ulf.org/ – United Leukodystrohpy Foundation- designed to educate, support and inform on the different leukodystrophies of which Canavan Disease is a part.