Sandhoff disease
Sandhoff disease is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of specific enzymes needed to break down certain fats in the body, leading to the accumulation of harmful substances in cells. This condition is part of a group of disorders known as GM2 gangliosidoses, which also includes Tay-Sachs disease.
Symptoms of Sandhoff disease typically appear in infancy and may include developmental delays, muscle weakness, and vision problems. As the disease progresses, affected individuals may experience seizures and loss of motor skills. Unfortunately, there is currently no cure, and treatment focuses on managing symptoms and providing supportive care.