Sanfilippo Syndrome is a rare genetic disorder that belongs to a group of diseases called mucopolysaccharidoses (MPS). It is characterized by the body's inability to properly break down long chains of sugar molecules called glycosaminoglycans (GAGs). This leads to the accumulation of GAGs in cells throughout the body, causing progressive damage.
Children with Sanfilippo Syndrome appear normal at birth, but as the GAGs build up, they start experiencing developmental delays and behavioral problems. The symptoms typically become more severe with age. Affected individuals may experience speech and language difficulties, hyperactivity, sleep disturbances, and cognitive decline.
Unfortunately, there is currently no cure for Sanfilippo Syndrome. Treatment mainly focuses on managing symptoms and improving quality of life. This may involve physical and occupational therapy, medications to address specific symptoms, and supportive care.
Research efforts are ongoing to develop potential therapies, including enzyme replacement therapy and gene therapy, which aim to address the underlying cause of the disease. Early diagnosis and intervention are crucial in managing Sanfilippo Syndrome and providing the best possible care for affected individuals.