Yurihonjo

Researchers are studying participants with Congenital Myasthenic Syndromes (CMS) caused by mutations in the DOK7, MUSK, AGRN, or LRP4 genes. The goal is to understand symptoms, quality of life, and disease activity in these patients over time. This natural history study gathers important information about how CMS affects participants and tracks changes in their health. Participants will attend up to four study visits during which clinical assessments are performed. These assessments focus on evaluating symptoms and overall quality of life related to CMS. No specific treatments or interventions are administered, as the study is observational and aims to collect detailed data about the condition's progression. Throughout the study, researchers collect data retrospectively and prospectively over a period of up to 12 months. This includes information on diagnosis, healthcare use, medications, and changes in health status related to CMS. The study carefully monitors participants to better characterize the natural course of the disease and its impact on daily living.