TAY-SACHS DISEASE

OTHER NAMES FOR TAY-SACHS DISEASE

• HexA deficiancy
• Hexosaminidase A deficiancy
• TSD
• B variant GM2 gangliosidosis
• Sphingolipidosis

What is Tay-Sachs disease?
Tay-Sachs disease is an inherited metabolic disorder in which certain lipids accumulate in the brain causing spastically and death in childhood.

WHAT CHROMOSOMES ARE BEING AFFECTED

CAUSE(S) OF THE DISORDER

• People lacking a specific
• Protein (enzyme) called
• Hexosaminidase A

Tay-Sachs disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Both parents carry the gene but show no signs of it.

THE NATURE OF THE DISORDER

SIGNS/SYMPTOMS OF TAY-SACHS DISEASE

• Deafness, blindness, decreased muscle tone,
• Increased startle response, seizures,
• Paralysis or loss of muscle function, slow growth,
• Delayed mental and social development,
• Red spot on the macula (area near center of retina)

MOST COMMON SIGNS AND SYMPTOMS

• Loss if sight
• Loss of muscle abilities
• Loss of hearing
• Severe developmental delay

Tay-Sachs disease targets mostly Ashkenazic Jewish infants at the age of around 3-6 months of age.

Children with this disease will likely not live past the age of 4

TREATMENTS

Usually infants are scanned for signs of carrying the disease

There can be prenatal treatments

There is no cure for Tay Sachs disease so the goal of the treatment is support and comfort towards the patients

There is a research foundation for the disease.

WORKS CITED

WORKS CITED⤵️

• Healthline.com
• Geneticshomereference.com
• Mayoclinic.org