GM2 gangliosidosis

GM2 gangliosidosis is a rare genetic disorder where the body cannot properly break down GM2 gangliosides, substances found in nerve cells. This leads to their accumulation in the brain and nervous system, causing progressive neurological deterioration. Symptoms often include muscle weakness, loss of motor skills, vision and hearing problems, and severe cognitive decline. The disorder is caused by missing or faulty enzymes necessary for breaking down these substances. Types like Tay-Sachs and Sandhoff disease are specific forms of GM2 gangliosidosis, with varying severity. Currently, there is no cure, but research continues to explore potential treatments.