New study tracks rare muscle disorders to improve future care

This study follows 75 people aged 6 months or older with congenital myasthenic syndromes (CMS), a group of inherited disorders that weaken communication between nerves and muscles. Over up to 7 visits in 5 years, researchers will use physical exams, heart and lung tests, MRIs, and other assessments to track how the disease changes. The goal is to better understand CMS and validate tools for measuring its progression.