TAY- SACHS DISEASE

WHAT IS TAY-SACHS DISEASE?

• Rare inherited disorder that destroys nerve cells in the brain and spinal cord.
• Found in infants
• Autosomal, Recessive
• Tay-Sachs is more common in that of people in Eastern and Central Europe. Also, the Jewish heritage

SYMPTOMS

• Impaired motor skills
• Startled easily
• Seizures
• Loss of hearing and vision
• Unable to swallow, paralysis

PRE-SYMPTOM DIAGNOSIS

• Enzyme exam of blood or body tissue for hexosaminidase levels
• Eye exam (reveals a cherry-red spot in the macula)

TREATMENTS

• Presently there is no treatment for Tay-Sachs disease
• Anticonvulsant medicine may initially control seizures
• Proper nutrition and hydration and techniques to keep the airway open
• Children may eventually need a feeding tube
• Children usually die by age 4, from recurring infection.

BIBLIOGRAPHY

• "NINDS Tay-Sachs Disease Information Page." Tay-Sachs Disease: National Institute of Neurological Disorders and Stroke (NINDS). NIH, n.d. Web. 02 Mar. 2014.
• "Tay Sachs Disease." Medical Pictures Info RSS. RSS, n.d. Web. 05 Mar. 2014.
• "Tay-Sachs Disease." - Genetics Home Reference. GHR, n.d. Web. 02 Mar. 2014