What is Sly Syndrome

Sly Syndrome, also known as mucopolysaccharidosis type VII (MPS VII), is a rare genetic disorder that affects the body's ability to break down certain complex sugars called glycosaminoglycans (GAGs). This condition is caused by a deficiency of the enzyme beta-glucuronidase, which is responsible for breaking down GAGs.

As a result of this enzyme deficiency, GAGs accumulate in various tissues and organs, leading to progressive damage. Sly Syndrome can affect multiple systems in the body, including the skeletal system, respiratory system, cardiovascular system, and central nervous system.

Common symptoms of Sly Syndrome include skeletal abnormalities, joint stiffness, coarse facial features, enlarged liver and spleen, heart valve abnormalities, and developmental delays. The severity and progression of symptoms can vary widely among affected individuals.

Currently, there is no cure for Sly Syndrome, and treatment mainly focuses on managing the symptoms and improving the quality of life for patients. This may involve a multidisciplinary approach, including enzyme replacement therapy, physical therapy, and supportive care.