Definition

Tay-Sachs disease (TSD) is a rare genetic disease that stops the nerves from working the right way. It mostly affects babies and young children. This condition causes early death in children. Adults who get it may live to 60 years of age.

Causes

TSD is caused by a faulty gene that is passed down from both parents. The faulty gene results in a missing enzyme. This enzyme is needed to break down a fatty substance. When this substance builds up in the brain it causes damage.

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Risk Factors

The most common risk factor is having two parents who carry the faulty gene.

TSD is also more common in:

• People of Eastern European (Ashkenazi) Jewish descent
• French Canadians in eastern Quebec and New England
• Cajun people in Louisiana
• Non-Amish - Pennsylvania Dutch

Symptoms

Problems start when a baby is about 4 to 5 months of age. TSD gets worse over time. Common problems are:

• Delay or loss of skills such as crawling
• Learning problems
• Problems speaking
• Muscle stiffness, spasms, or weakness
• Problems swallowing
• Vision or hearing problems
• Being easily startled by noise or motion

Diagnosis

You will be asked about your child's symptoms and health history. A physical exam will be done.

Blood tests will be done to check for a missing enzyme This confirms the diagnosis.

Treatment

TSD cannot be cured. The goal of treatment is to manage symptoms. Options are:

• Therapy for feeding, swallowing or speech problems
• Physical therapy
• Medicines such as:
  • Antidepressants for mental health problems
  • Antiseizure medicine

Prevention

There are no known guidelines to prevent TSD.