Description Sandhoff disease is...
Description
Sandhoff disease is a rare inherited disorder that results in nerve cell damage in the brain and spinal cord. Individuals with Sandhoff disease are lacking a chemical (hexosaminidase A) that breaks down a fatty material called ganglioside GM2. If this material is not broken down, it will build up and cause damage to nerve cells. There are two forms of the disease. One occurs from birth and the other occurs between the teens and thirties. Individuals with Sandhoff disease may experience paralysis, deafness, blindness and death. The disease is very similar to Tay-Sachs disease but rarely occurs in Ashkenazi Jews.
Symptoms
Symptoms may include loss of motor skills, deafness, blindness, seizures and dementia. Other symptoms may include enlarged tongue, head, heart or liver and spleen.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical will be performed. The test can be diagnosed before birth with an amniocentesis (insertion of a needle to remove fluid from the sac containing the baby) and examination of fluid. After birth, a blood test can be performed to confirm the diagnosis.
Tests:
Genetic testing
Specialists:
Pediatrics, Pediatric Neurology, Clinical Genetics
Workup:
A history and physical will be performed. The test can be diagnosed before birth with an amniocentesis (insertion of a needle to remove fluid from the sac containing the baby) and examination of fluid. After birth, a blood test can be performed to confirm the diagnosis.
Tests:
Genetic testing
Specialists:
Pediatrics, Pediatric Neurology, Clinical Genetics
Treatment
There is no specific treatment for Sandhoff disease. Treatment will be aimed at treating symptoms and providing counseling for patients and parents.