GM2s

GM2s, also known as Tay-Sachs disease type 2 or juvenile Tay-Sachs disease, is a rare, inherited neurodegenerative disorder. It is a less severe and slower-progressing form of Tay-Sachs disease compared to the infantile form. The condition is caused by mutations in the HEXA gene, which provides instructions for making an enzyme called beta-hexosaminidase A. This enzyme is crucial for breaking down a fatty substance called GM2 ganglioside. When the enzyme is deficient or absent, GM2 ganglioside accumulates in nerve cells, particularly in the brain and spinal cord, leading to progressive damage.

GM2s typically manifests in childhood, usually between the ages of two and ten years, though onset can vary. Symptoms can include impaired motor skills, speech difficulties, cognitive decline, and behavioral changes. Individuals with GM2s may experience progressive loss of muscle control, tremors, and difficulty swallowing. While life expectancy is generally longer than in infantile Tay-Sachs disease, it is still significantly reduced compared to the general population, with death often occurring in adolescence or early adulthood. Diagnosis is usually made through genetic testing and enzyme assays. Currently, there is no cure for GM2s, and treatment focuses on managing symptoms and providing supportive care. Research is ongoing to explore potential therapeutic interventions.