Beta Hexosaminidase T (GM2-2/ Sandhoff)

Symptoms of Sandhoff disease usually begin in infancy and may include muscle weakness, loss of motor skills, increased startle response, seizures, hearing loss, and vision problems. As the disease progresses, mental and physical capabilities deteriorate.

Sandhoff disease is diagnosed through a blood test that measures the activity of Beta Hexosaminidase T. Genetic testing may also be performed to confirm the presence of mutations in the HEXB gene, which causes Sandhoff disease.

Currently, there is no cure for Sandhoff disease. The treatment primarily focuses on managing symptoms and providing supportive care to improve the patient’s quality of life.

For the infantile form of Sandhoff disease, life expectancy is typically around 3 to 5 years. Later-onset forms have a more variable progression and life expectancy.

Sandhoff disease is similar to Tay-Sachs disease as both are GM2 gangliosidoses. However, while Tay-Sachs is caused by a deficiency in Beta Hexosaminidase A alone, Sandhoff disease is due to a deficiency in both Hexosaminidase A and Hexosaminidase T.

Yes, prenatal testing through chorionic villus sampling or amniocentesis can detect Sandhoff disease before birth. Couples with a family history of Sandhoff disease or who are known carriers may consider genetic counseling and prenatal testing.

Research is ongoing for treatments such as gene therapy and enzyme replacement therapy for Sandhoff disease.

Sandhoff disease is rare and can affect individuals of any ethnic background. However, certain mutations in the HEXB gene are more common in specific populations.

Beta Hexosaminidase T is an enzyme that helps break down GM2 gangliosides in the brain and nervous system. Without this enzyme, GM2 gangliosides accumulate in nerve cells, leading to neurological problems.

Sandhoff disease is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the disease.

Support groups, counseling, and educational resources are available for families affected by Sandhoff disease. Social workers and psychologists may also provide assistance in managing the challenges associated with the disease.

There are no known lifestyle modifications that can alleviate the symptoms of Sandhoff disease. The focus is mainly on managing symptoms and providing supportive care.

No, Sandhoff disease is a genetic disorder and is not contagious.

If Sandhoff disease is suspected, a consultation with a geneticist or pediatric neurologist is recommended for proper diagnosis and management.

Sandhoff disease is a severe genetic disorder that leads to progressive neurological decline. Early diagnosis through Beta Hexosaminidase T testing is essential in managing the condition and planning for the affected individual's care. There is no cure for Sandhoff disease, and treatment focuses on managing symptoms and improving quality of life. Families affected by Sandhoff disease may benefit from counseling and support services.