Congenital Myasthenic Syndrome (CMS)

Introduction to CMS

• Congenital Myasthenic Syndrome (CMS) can exhibit an X-linked mode of inheritance, specifically through mutations in the CHRNE gene located on the X chromosome, as identified by the American Heart Association [1]

Inheritance Patterns

• The American Heart Association scientific statement identifies X-linked inheritance as one of the patterns seen in neuromuscular diseases, with males typically more severely affected than females [1]

Genetic Counseling

• Genetic counseling is essential for families with X-linked CMS to understand the 50% risk of transmission to male offspring from carrier mothers [2]