GM2 gangliosidoses
GM2 gangliosidoses are a group of inherited genetic disorders caused by the accumulation of GM2 gangliosides in the body. This buildup occurs due to deficiencies in specific enzymes, leading to progressive neurological damage. The most common types include Tay-Sachs disease and Sandhoff disease, which primarily affect infants and young children.
Symptoms of GM2 gangliosidoses often include developmental delays, loss of motor skills, and seizures. As the conditions progress, affected individuals may experience vision and hearing loss, as well as difficulties with movement. Early diagnosis and supportive care are essential for managing symptoms and improving quality of life.