Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for congenital myasthenic syndrome is limited primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This rarity restricts the ability to conduct large-scale systematic studies, which are essential for thorough clinical characterization. Additionally, the genetic basis of the condition has only recently begun to be explored, contributing to the gaps in available clinical data.
To navigate congenital myasthenic syndrome, it is important to seek a neurologist with expertise in neuromuscular disorders. Consider reaching out to specialized centers that focus on rare neuromuscular conditions. Although there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials, which may offer access to cutting-edge research and potential treatments.
Currently, there are 9 active clinical trials investigating various aspects of congenital myasthenic syndrome. While there are no orphan drug designations or approved treatments at this time, these trials may explore potential therapeutic options. For more information on these trials, you can visit ClinicalTrials.gov and search for 'congenital myasthenic syndrome'.
Actionable guidance for navigating care for congenital myasthenic syndrome
To navigate congenital myasthenic syndrome, it is important to seek a neurologist with expertise in neuromuscular disorders. Consider reaching out to specialized centers that focus on rare neuromuscular conditions. Although there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials, which may offer access to cutting-edge research and potential treatments.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for congenital myasthenic syndrome is limited primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This rarity restricts the ability to conduct large-scale systematic studies, which are essential for thorough clinical characterization. Additionally, the genetic basis of the condition has only recently begun to be explored, contributing to the gaps in available clinical data.
To navigate congenital myasthenic syndrome, it is important to seek a neurologist with expertise in neuromuscular disorders. Consider reaching out to specialized centers that focus on rare neuromuscular conditions. Although there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials, which may offer access to cutting-edge research and potential treatments.
Currently, there are 9 active clinical trials investigating various aspects of congenital myasthenic syndrome. While there are no orphan drug designations or approved treatments at this time, these trials may explore potential therapeutic options. For more information on these trials, you can visit ClinicalTrials.gov and search for 'congenital myasthenic syndrome'.
Actionable guidance for navigating care for congenital myasthenic syndrome
To navigate congenital myasthenic syndrome, it is important to seek a neurologist with expertise in neuromuscular disorders. Consider reaching out to specialized centers that focus on rare neuromuscular conditions. Although there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials, which may offer access to cutting-edge research and potential treatments.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for congenital myasthenic syndrome is limited primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This rarity restricts the ability to conduct large-scale systematic studies, which are essential for thorough clinical characterization. Additionally, the genetic basis of the condition has only recently begun to be explored, contributing to the gaps in available clinical data.
To navigate congenital myasthenic syndrome, it is important to seek a neurologist with expertise in neuromuscular disorders. Consider reaching out to specialized centers that focus on rare neuromuscular conditions. Although there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials, which may offer access to cutting-edge research and potential treatments.
Currently, there are 9 active clinical trials investigating various aspects of congenital myasthenic syndrome. While there are no orphan drug designations or approved treatments at this time, these trials may explore potential therapeutic options. For more information on these trials, you can visit ClinicalTrials.gov and search for 'congenital myasthenic syndrome'.
Actionable guidance for navigating care for congenital myasthenic syndrome
To navigate congenital myasthenic syndrome, it is important to seek a neurologist with expertise in neuromuscular disorders. Consider reaching out to specialized centers that focus on rare neuromuscular conditions. Although there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, inquire about participation in clinical trials, which may offer access to cutting-edge research and potential treatments.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 4 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.