Definizione e Significato di "tay-sachs disease"

What is "tay-sachs disease"?

Tay-sachs disease is a rare genetic disorder that affects the nervous system. It is typically characterized by a progressive loss of movement abilities, developmental delays, muscle weakness, and an exaggerated startle response. Tay-sachs disease is caused by changes in the HEXA gene, which leads to the buildup of harmful substances in the brain and spinal cord. Symptoms usually appear when a baby or in early childhood and get worse over time, eventually leading to severe disability and early death. There is currently no cure for tay-sachs disease, and treatment focuses on managing symptoms and providing supportive care to improve the individual's quality of life. This may include physical therapy, occupational therapy, and medications to manage symptoms such as seizures or muscle spasms.