What is Sandhoff Disease

Sandhoff Disease is a rare and devastating genetic disorder that falls under the category of lysosomal storage diseases. It is an inherited condition caused by a mutation in both copies of the HEXB gene, resulting in the deficiency of a crucial enzyme called beta-hexosaminidase. This enzyme plays a vital role in breaking down a fatty substance called GM2 ganglioside, which accumulates in the nerve cells of affected individuals.

As a result, Sandhoff Disease primarily affects the central nervous system, leading to progressive deterioration of motor skills, muscle weakness, and intellectual disabilities. The symptoms typically manifest in infancy or early childhood and worsen over time. Affected individuals may experience seizures, loss of coordination, impaired vision, and eventually become non-responsive.

Sandhoff Disease is an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Genetic counseling and carrier screening are essential for families with a history of the disease.

Unfortunately, there is currently no cure for Sandhoff Disease. Treatment mainly focuses on managing symptoms and providing supportive care to enhance the individual's quality of life. Research efforts are ongoing to explore potential therapies and interventions to alleviate the impact of this devastating condition.