Tay-Sachs Disease
Even with the best of care...
Children w/ TS usually dies by age 4 from recurring infection. People the adult onset form of the disease can live full adult lives but most become wheelchair bound.
How do we treat the s/s of Tay-Sachs?
Airway, Breathing, Feeding & Hydration, Infection Control.
Tay-Sachs is an autosomal recessive condition... what does this mean?
BOTH parents must have this defective gene in order for a child to inherit it.
Symptoms of Tay-Sachs Disease?
Infants w/ TS appear to develop normally for the first few months of life. Then, as nerve cells become distended w/ fatty material, a relentless deterioration of mental & physical abilities occurs. The child becomes blind (CHERRY RED SPOT OF RETINA), deaf, dementia & unable to swallow, muscle atrophy, & paralysis.
Treatment of Tay-Sachs Disease?
There is no cure or slowing down the progression. Control the symptoms!!
What happens if you DON'T have the HEXA gene?
a fatty substance (lipid) called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain.
How is it Diagnosed?
beta-hexosaminidase A activity to identify patients & carriers of Tay-Sachs disease.
What is Tay-Sachs?
inherited condition characterized by progressive destruction of nerve cells in the brain & spinal cord.
What is the HEXA gene?
is responsible for making a vital enzyme called hexosaminidase-A.
What does the beta-hexosaminidase A look for?
looks for specific mutations or changes in the gene that codes for HEXA.
