Canavan disease
is a degenerative brain disorder that turns the brain's white matter into porous, spongy tissue filled with fluid. Even in infancy, its signs and symptoms are perceivable.
History
Canavan disease was named for Myrtelle Canavan, who discovered it in 1931.
Significance
According to the Genetics Home Reference website (GHR), Canavan disease is most common in Ashkenazi Jews, where it is estimated to impact as many as 1 in 6,400 people. The GHR claims the incidence rate outside this population is unknown.
Symptoms
The National Tay-Sachs & Allied Diseases Association (NTSAD) reports that poor head control is an early sign of the disease. Other signs include inability to perform age-appropriate motor tasks, a lack of visual attentiveness and poor muscle tone.
Effects
Disease progression is marked by blindness, seizures, muscle weakness and feeding problems. According to the NTSAD, most children born with Canavan disease die as infants.
Considerations
Prenatal screening determines if parents have the gene known to cause Canavan disease. Because the gene is recessive, both parents must carry it for a child to be affected. Even in this situation, the chance of the child having the disease is only 1 in 4, NTSAD says.
Tags: Canavan disease, Canavan disease
