NEU1

Clinical Characteristics

Sialidosis type I usually starts in late childhood or teenage years. People with type I have trouble walking, muscle jerks called myoclonic seizures, seizures affecting both sides of the body, and a special red spot in the eye called a cherry-red macula.

Sialidosis type II is more severe and starts earlier, sometimes even before birth. It has three forms based on when symptoms begin: at birth, during infancy, or during childhood and adolescence. Babies with type II may have swelling, unusual facial features, and problems with their bones and mental development. Type II can cause early death.