Congenital Myasthenic Syndromes (CMS)

Research

In the past, people with congenital myasthenic syndromes (CMS) were often told they had myasthenia gravis (MG) and were subjected to years of unwarranted immunosuppressive therapy.

By identifying the genetic defects that cause CMS, researchers have improved the diagnosis of CMS and discovered drugs that are effective against it. Today, they are continuing to probe the genetic and molecular underpinnings of the various CMS subtypes so that specific treatments can be developed or refined.

Current projects include testing of new therapeutics, including gene therapy candidates, in mouse models of CMS subtypes, as well as the study of methods to improve the diagnosis, treatment and prevention of CMS.

Additional reading

• Ramdas S, Beeson D, Dong YY. Congenital myasthenic syndromes: increasingly complex. Curr Opin Neurol. 2024 Oct 1;37(5):493-501. doi: 10.1097/WCO.0000000000001300. Epub 2024 Jul 25. PMID: 39051439; PMCID: PMC11377046.
• Ramdas S, Beeson D. Congenital myasthenic syndromes: where do we go from here? Neuromuscul Disord. 2021 Oct;31(10):943-954. doi: 10.1016/j.nmd.2021.07.400. PMID: 34736634.

Last reviewed: August 2025