So what is Canavan Disease?
Canavan disease is a rare, inherited, genetic disorder. It 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. The myelin sheath is the covering that protects nerves and promotes the efficient transmission of nerve impulses.
In Canavan disease there is a mutation of the ASPA gene on chromosome 17. The ASPA gene produces an enzyme called Aspartoacyase. Aspartoacylase is responsible for breaking down N-Acetyl Aspartic Acid(NAA) in the brain.
Children born with Canavan disease usually have extremely high levels of NAA which can be detected by urinalysis. The most accurate way to definitively test for Canavan disease is through blood DNA testing. There are over 70 identified mutations of the ASPA gene and even two different mutations will result in a child born with Canavan disease.
Neonatal/Infantile Canavan Disease
Neonatal/infantile Canavan disease is the most common and severe form of the condition. Affected infants appear normal for the first few months of life. By age 3 to 5 months, problems with development become noticeable. These infants sometimes 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.
Some children will develop more skills in these areas depending on the presentation of the disease in that individual.
The life expectancy for people with Canavan disease varies and can depend on the quality of care as well as what mutation or mutations the affected child is born with. Children who are born with the most common severe form of the disease and can live into their teens or twenties with excellent care. There are many factors that determine how long a person can live with Canavan disease.
This disease can vary greatly from person to person. Continued research can aid in developing a cure for Canavan disease. Please join the Canavan Village, and Tobin, in fighting for a cure!
For more information you can visit https://en.wikipedia.org/wiki/Canavan_disease
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