What is Sandhoff disease?
Sandhoff disease is a lipid storage disorder that sees the deterioration of the central nervous system (CNS). It is often compared to Tay-Sachs disease due to the similarity of symptoms.
Males and females are at an equal likelihood of inheriting this disease, but those of the Creole population in Argentina, Metis Indian population in Canada, and those of Lebanese descent are at the highest risk.
What are the symptoms of Sandhoff disease?
Symptoms typically present themselves within the first three to six months, including lethargy, feeding problems, and an exaggerated startle reflex. Cherry macules will also form in the eyes. Other symptoms will follow, including motor delays, mental deterioration, motor weakness, spasticity, heart murmurs, seizures, blindness, and an enlarged spleen.
What causes Sandhoff disease?
A mutation in the gene for a beta subunit of hexosaminidase B enzyme causes Sandhoff disease. This mutation results in a buildup of GM2 gangliosides, which occurs in the lysosomes of nerve cells. As the accumulation continues, the nerve cells progressively weaken and die.
This mutation is inherited in an autosomal recessive pattern, meaning both parents must pass down the mutated form of the gene in order for the child to be affected.
How is Sandhoff disease diagnosed?
An enzyme assay is the most common way to diagnose Sandhoff disease. Genetic testing is a way to confirm a diagnosis.
What are the treatments for Sandhoff disease?
Treatment is symptomatic and supportive. Options include respiratory and nutritional therapy and anticonvulsants. Genetic counseling is recommended for the families of those with Sandhoff disease.