Tay sachs disease in adult

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Tay-Sachs is a disease of the central nervous system. It is a neurodegenerative disorder that most commonly affects infants. In infants, it is a progressive disease that is unfortunately always fatal.

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Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common type, known as infantile Tay–Sachs disease, becomes apparent around three to six months of age with the baby losing the ability to turn over, sit, or crawl.


Unfortunately many healthcare providers are not aware of the rare adult forms of these diseases and dismiss the initial diagnosis due to the age of the patient. However, like all forms of Tay-Sachs, the LOTS form is only confirmed by a blood test to see the actual levels of Hexosaminidase A (Hex-A) they have. Most people with Tay-Sachs have the infantile form. In this form, the nerve damage usually begins while the baby is still in the womb. Symptoms usually appear when the child is 3 to 6 months old. The disease tends to get worse very quickly, and the child usually dies by age 4 or 5. Late-onset Tay-Sachs disease, which affects adults, is very rare.
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