Tay-Sachs disease is a rare Autosomal Recessive disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. More common in people of Ashkenazi (eastern and central European) Jews.
Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15 which codes for Beta-Hexosaminidase A. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside
There are Basically 3 Forms of Tay Sachs Disease:
In patients with a clinical suspicion for Tay–Sachs disease, with any age of onset, the initial testing involves an enzyme assay to measure the activity of hexosaminidase in serum,fibroblasts or leukocytes.
All patients with infantile onset Tay–Sachs disease have a "cherry red" macula in the retina, easily observable by a physician using an ophthalmoscope. This red spot is a retinal area that appears red because of gangliosides in the surrounding retinal ganglion cells. It can also be see in various other pathologies like Neimann Picks Dz. Hepatomegaly is absent in tay-sachs which differentiate it with Niemann Picks Disease.
There is No Cure available for Tay-Sachs. It is managed Symptomatically to ease the symptoms.
By : Dr. Chirag Navadia. Follow Dr. Chirag at https://twitter.com/MedRx22