Canavan disease is a genetic condition passed to a child when both parents carry the gene. We call this an autosomal recessive condition, and it’s most common in a specific in eastern and central European children of Jewish heritage known as Ashkenazi Jews. There has been very little research about Canavan disease in other ethnic groups because it is so rare. Canavan currently affects 1 out of every 6,400-13,500 Ashkenazi Jews.
How does Canavan disease affect the body?
Canavan disease is caused by a mutation in what’s called the ASPA gene. ASPA is responsible for signaling the production of an enzyme and a cascade of other processes that influence how neurons in the brain receive and transfer information. Neurons are cells that transmit electrical signals from place to place and are essential for communication between the body and the brain. When ASPA doesn’t work correctly, the neuron’s protective covering known as myelin fails to grow and existing myelin is broken down, and the brain can’t develop normally.
What are the symptoms of Canavan disease?
Symptoms will usually begin during infancy. When a parent or healthcare provider begins to notice changes can vary, but usually between 3 and 5 months of age, it’s apparent that something is wrong. The most common symptoms include:
· Increasing head circumference (distance around the head)
· Changes in muscle tone—either stiff or floppy
· Inability to control head movement
· Reduced visual responsiveness
Children with Canavan will not meet their normal developmental milestones like sitting up, crawling or walking. Over time, additional complications like seizures, paralyzation or blindness can occur.
What is the life expectancy for a child with Canavan disease?
Most children with Canavan will not live to ten years of age. However a rare few can live into their teens or early twenties. Even though the gene that causes it has been identified, there is no cure at this time. Supportive and comfort measures are the only approach.
Could I carry the gene for Canavan disease?
While the condition is rare, the potential for carrying the disease could be there. For men and women considering a family, it may be important to find out if you carry the mutated variation of ASPA that causes Canavan. To do that, you’ll need is a simple genetic screening test. These tests, such as those offered by Pathway Genomics, can offer valuable information that can be shared with your healthcare provider or a genetic counselor and will be valuable when making decisions about family planning.
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