Tay-Sachs Disease

Symptoms of Tay-Sachs Disease

There are three forms of Tay-Sachs disease, categorized by the types of symptoms and the age when the symptoms first appear. The most common form appears when the child is 3 to 6 months old, with the disease progressing rapidly to death by age 4 or 5. At birth, the infant appears healthy and develops normally for the first few months of life, but as the buildup of ganglioside GM2 begins to affect nerves, symptoms appear.

Initially, symptoms may include:

• Seizures
• Noticeable behavior changes, such as the infant stops smiling, crawling or rolling over and loses the ability to grasp or reach out
• Increased startle reaction
• Decreased eye contact
• Listlessness
• Increasing irritability
• Slow body growth with increasing head size
• Delayed mental and social skills

As the disease progresses, these symptoms become more dominant:

• Feeding difficulties
• Abnormal body tone
• Loss of motor skills
• Blindness
• Deafness
• Loss of intellectual skills

Much rarer are the forms of Tay-Sachs that develop later in life and are due to low levels of the hex A enzyme, rather than the complete deficiency of hex A in the infantile form. Children with juvenile hex A deficiency develop symptoms between ages 2 and 5, and usually die by age 15. A milder form of hex A deficiency can develop anywhere from age 5 to the early 30s. Symptoms include slurred speech, an unsteady gait, tremors and, sometimes, mental illness.