Tay-Sachs Disease

Description

A rare, inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form becomes apparent in infancy, where a child's development slows and muscles used for movement weaken, leading to seizures, vision and hearing loss, intellectual disability, and paralysis.

Common Symptoms

• Loss of motor skills
• Exaggerated startle reaction to loud noises
• Seizures
• Vision and hearing loss
• A characteristic "cherry-red spot" in the eye
• Muscle weakness and paralysis

Common Causes

• Caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A), leading to a harmful buildup of a fatty substance in the brain. It is an autosomal recessive disorder.

Treatment Information