Tay–Sachs

Tay–Sachs disease is a rare and usually fatal genetic disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay–Sachs disease becomes apparent in infancy.

Signs and Symptoms

Infants with Tay–Sachs disease appear to develop normally for the first few months of life. Then, as neurons become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay–Sachs disease usually die by age 4.

Causes

Tay–Sachs disease is caused by mutations in the HEXA gene on chromosome 15. The HEXA gene provides instructions for making a part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the enzyme from breaking down a fatty substance called GM2 ganglioside in the brain.

Diagnosis

Tay–Sachs disease can be diagnosed through a blood test that measures beta-hexosaminidase A activity. Genetic testing can also be used to identify HEXA mutations that cause Tay–Sachs disease.

Treatment

There is no cure for Tay–Sachs disease, but the disease can be managed with treatment to relieve symptoms and improve quality of life. Treatment options include medications to manage symptoms, physical therapy to help with muscle strength and mobility, and nutritional support.

Prognosis

The prognosis for individuals with Tay–Sachs disease is poor. Most children with the disease die by age 4. Adults with late-onset Tay–Sachs disease have a shortened lifespan.

See Also

• Genetic disorder
• Neurodegenerative disease
• HEXA

References

Tay–Sachs Resources
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