Sandhoff Disease synonyms

Sandhoff Disease Synonyms:

Sandhoff disease is a rare genetic disorder that falls under the category of lysosomal storage diseases. It is also known by several other names, including:

• Tay-Sachs variant AB


• GM2-gangliosidosis, type II


• Hexosaminidase A and B deficiency


• Hexosaminidase alpha and beta deficiency


• Hexosaminidase alpha subunit deficiency


• Hexosaminidase beta subunit deficiency

Description:

Sandhoff disease is an autosomal recessive disorder caused by a mutation in the HEXB gene, resulting in a deficiency of the enzymes hexosaminidase A and B. These enzymes are responsible for breaking down a fatty substance called GM2 ganglioside. Without these enzymes, GM2 ganglioside accumulates in the cells of the brain and spinal cord, leading to progressive neurodegeneration.

The disease primarily affects infants and young children, with symptoms typically appearing around 6 months of age. Initial signs may include motor weakness, muscle stiffness, and an exaggerated startle response. As the disease progresses, children may experience seizures, loss of motor skills, intellectual disability, and impaired swallowing and feeding abilities.

Prognosis:

Sandhoff disease is a devastating condition with no known cure. The prognosis is generally poor, and most affected individuals do not survive beyond early childhood. The progressive neurodegeneration leads to severe disability and a decline in quality of life.

Treatment:

Currently, there is no specific treatment for Sandhoff disease. Management focuses on supportive care to alleviate symptoms and improve the quality of life for affected individuals. This may involve physical therapy, occupational therapy, and speech therapy to address motor and communication difficulties. Additionally, medications may be prescribed to manage seizures and other associated symptoms.