Tay-Sachs Disease

Symptoms

A baby with Tay-Sachs disease has no signs or symptoms of the disease at birth. Symptoms usually appear 3 to 6 months after birth. The symptoms are caused by damage to the brain and nerve cells from the buildup of fatty compounds. An early sign of the infantile form of Tay-Sachs is a red spot on the retina. See a picture of the retina.

Watch for the following symptoms if you suspect your baby may have Tay-Sachs disease.

At 3 to 6 months, you may notice:

• Decreased eye contact.
• Twitchy eyes (myoclonic jerks).
• Difficulty focusing on objects.
• Excessive startling by sharp but not necessarily loud noises.

At 6 to 10 months, you may notice:

• Limp and floppy muscles (hypotonia).
• Decreased alertness and playfulness.
• Difficulty sitting up or rolling over and a loss of motor skills.
• Decreased hearing and eventual deafness.
• Gradual loss of vision.
• An abnormal increase in head size (macrocephaly).

10 months and older

As a child with Tay-Sachs grows older, he or she may become blind, mentally retarded, paralyzed, and unresponsive to the environment. The child also may have seizures, difficulty swallowing, and difficulty breathing. Children with Tay-Sachs disease rarely live beyond 4 or 5 years of age.

Late-onset Tay-Sachs disease

Symptoms of late-onset Tay-Sachs disease (LOTS) usually develop between adolescence and the mid-30s. The symptoms vary among individuals, depending on the amount of hex A being produced by the body. At first, symptoms such as clumsiness or mood changes are subtle and may go unnoticed. Other symptoms that may develop include:

• Personality changes.
• Muscle weakness or twitching.
• Slurred speech.
• Impaired thinking and reasoning ability, such as memory problems, difficulty with comprehension, and short attention span.
• Inability to distinguish between what's real and unreal (psychotic episodes) or depression.

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Author:	Debby Golonka, MPH Ralph Poore	Last Updated: May 22, 2008
Medical Review:	Michael J. Sexton, MD - Pediatrics Siobhan M. Dolan, MD, MPH - Reproductive Genetics Andrew Swan, MD, CCFP, FCFP - Family Medicine
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