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Tay-Sachs Disease treatment

Description
It is a fatal autosomal recessive genetic disorder caused by an inactivity of the beta-hexosaminidase A enzyme which aids in the breakdown of gangliosides. This leads to the harmful buildup of ganglioside GM2, a fatty substance that is made and broken down very rapidly during infancy. There are three types of Tay-Sachs- Infant, Juvenile, and Late-Onset Adult.
Causes
Tay-Sachs is an autosomal recessive genetic disorder. The genetic defect occurs on chromosome 15. Both parents must at least carry the gene in order to produce a child affected with Tay-Sachs Disease.
Prevention
Tay-Sachs cannot be prevented. The only thing that can be done is genetic testing through a simple blood test where blood is extracted from a vein, the umbilical cord, amniotic fluid, and even the placenta. Also, counseling can be done for those planning to become pregnant and have a family history of Tay-Sachs or are known carriers of the disease.
Common Symptoms
Common symptoms of Tay-Sachs are loss of muscle tone, mental retardation, decreased social skills, irritability, deafness, slowed growth, loss of motor skills, red spots on the eyes, inability to swallow, and blindness.
Rare Symptoms
Rare symptoms of Tay-Sachs include seizures, dementia, and paralysis.
Traditional Treatment
Though Tay-Sachs cannot be cured, there are treatments to help the patient more comfortable such as anticonvulsant medications to help control seizures, a very nutritional and hydrated diet, a breathing tube, and feeding tubes.
Alternative Treatment
Chest Physiotherapy is an alternative treatment that helps relieve mucus buildup. Physical therapy can also help with stiffening joints and loss of muscle tone.
Treatment Comparison
Research and Development
Gene therapy, stem cell transplantation, substrate reduction therapy, Zavesca, and Pyrimethamine (PYR).
Tay-Sachs Disease Treatments
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