Clinical Characteristics

What are the common symptoms in children with GM2 activator deficiency?

Children with GM2 activator deficiency are normal at birth. They generally develop symptoms between the ages of four months to one year with regression of learned skill. That include delay in development, loss of or poor head control, muscle weakness, seizures, behavioral problems, and irritability. There is gradual intellectual decline. The most common sign is cherry-red spot in the eye and increased sensitivity to noise or sounds.