Sandhoff disease

Sandhoff disease is a rare genetic disorder caused by a deficiency of certain enzymes that help break down complex fats in the body and brain. Without these enzymes, harmful substances build up in nerve cells, leading to progressive neurological problems. Symptoms often appear in infancy or early childhood and include muscle weakness, loss of motor skills, vision and hearing loss, seizures, and intellectual decline. It is inherited in an autosomal recessive manner, meaning both parents must carry the faulty gene. Unfortunately, there is currently no cure, and the diseaseprogresses rapidly, leading to severe disability and early death.