MSD is a rare genetic disease due to mutations in the SUMF1 gene and absences of SUMF1  leads to the buildup of glycosaminoglycans in cells and organs. 

MSD is a progressive disease. There is no treatment currently available that targets the pathophysiology of this rare disease and slows that progressive. However, guidelines are available to help coordinate the numerous specialists involved in the care for this symptoms. Specialists can include neurologists, gastrointestinal specialists, dermatologists, cardiologists, ophthalmologists, orthopedic specialists, physical therapists, occupational therapists, speech therapists, etc.

Brenna Bentley, MS, GCG, a genetic counselor and patient research coordinator for the United MSD Foundation provides an overview of current treatment guidelines for multiple sulfatase deficiency (MSD).

The United MSD foundation is a patient advocacy group dedicated to pursuing treatment and advocacy for MSD.

To learn more about MSD and other lysosomal disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/