Congenital myasthenic syndrome

Congenital Myasthenic Syndrome (CMS) is a group of inherited disorders characterized by variable degrees of generalized fixed and fatigable muscle weakness, difficulty swallowing and speaking, and ptosis. The severity and specific symptoms can vary depending on the exact genetic mutation involved. There is no cure for CMS.

Our research in CMS, in close collaboration with the National Institute of Neurological Disorders and Stroke, is focused on developing and validating digital health technologies for tracking disease symptoms in infants, children and adults with CMS.