Canavan Disease: Symptoms, Signs & Genetic Information

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.