"Sandhoff disease is a rare condition, with an estimated incidence ranging from 1 in 130,000 to 1 in 400,000 live births globally 1,7. Unlike some other lysosomal storage diseases, Sandhoff disease does not have a strong ethnic or geographic predilection and can occur in various populations worldwide 1."
Expected headings
"Screening"
"Rarely, individuals remain essentially asymptomatic until early adulthood (third and fourth decade) 9. In this group, cerebellar and lower motor neurone dysfunction are most common as well as symptoms of autonomic dysfunction 9."
"There is currently no cure for Sandhoff disease, and treatment is primarily supportive. Management focuses on alleviating symptoms, such as controlling seizures, managing feeding difficulties, and providing respiratory support as the disease progresses 3."
"There is currently no cure for Sandhoff disease, and treatment is primarily supportive. Management focuses on alleviating symptoms, such as controlling seizures, managing feeding difficulties, and providing respiratory support as the disease progresses 3."