Deep Dive into Neuromuscular Diseases: CMS, CM, and OPMD
- ameliefournier4
- Oct 29
- 3 min read
At PROMOT, our mission is to advance understanding and improve outcomes for people living with rare neuromuscular diseases (NMDs). This month, we’re taking a closer look at three conditions central to our work:
Congenital Myasthenic Syndromes (CMS)
Congenital Myopathies (CM)
Oculopharyngeal Muscular Dystrophy (OPMD)
Each condition presents unique challenges for patients, clinicians, and researchers, and PROMOT is working to bridge critical gaps in knowledge and data.
Why These Three Diseases?
PROMOT focuses on CMS, CM, and OPMD because, together, they reflect the diversity of rare NMDs:
They affect individuals across the lifespan —from early childhood to adulthood and later onset.
Their genetic and clinical variability highlights the need for consistent and harmonized diagnostic approaches.
Each condition faces major gaps in natural history data and outcome measures, which are essential for trial readiness and the development of new therapies.
By addressing these challenges across three distinct groups of diseases, PROMOT is not only advancing disease-specific knowledge but also creating shared tools, data models, and methodologies that will benefit the broader NMD community.
Congenital myasthenias are a group of inherited disorders that impair communication between nerves and muscles. Although rare, they often present early in life with muscle weakness and fatigue.
Challenges & gaps:
Diagnosis is often delayed or missed due to the wide variability of symptoms.
Limited natural history data makes it difficult to understand disease progression.
Small patient populations restrict the ability to conduct large-scale clinical trials.
How PROMOT is addressing this: Through standardized phenotypic data collection and the integration of patient-reported outcomes, PROMOT is building a clearer picture of CMS.
By connecting clinical and molecular data across international sites, the project is creating resources that will enhance knowledge of disease progression and help identify potential contributing factors.
Congenital myopathies represent a heterogeneous group of inherited muscle disorders, often diagnosed in infancy or early childhood. They are characterized by structural abnormalities in muscle fibers that impair function.
Challenges & gaps:
Wide genetic and clinical variability complicates classification.
Many patients lack a precise molecular diagnosis.
Outcome measures sensitive enough to track progression in slowly evolving diseases remain underdeveloped.
How PROMOT is addressing this: PROMOT is conducting systematic reviews to map existing knowledge and define core phenotypic variables for CM.
By harmonizing data and selecting outcome measures, PROMOT aims to enable more consistent tracking of disease progression and to prepare the groundwork for future clinical trials.
Oculopharyngeal Muscular Dystrophy OPMD is a late-onset muscle disease that typically begins with drooping eyelids and difficulty swallowing. As the disease progresses, it can significantly impact daily functioning.
Challenges & gaps:
Natural history data are limited, particularly regarding long-term progression.
Dysphagia (swallowing difficulties) is a hallmark symptom, but standardized assessment tools are lacking.
Few treatment options exist, and clinical trial readiness is still limited.
How PROMOT is addressing this: PROMOT is developing home-based digital tools to assess mobility and dysphagia in real-world settings, ensuring data collection is patient-friendly and scalable.
By combining these with biological discovery platforms, the project is uncovering new insights into the mechanisms of OPMD and potential therapeutic targets.
Looking Ahead
By focusing on CMS, CM, and OPMD, PROMOT is tackling some of the most pressing challenges in rare NMD research: incomplete data, limited outcome measures, and barriers to clinical trial readiness. Through collaborative efforts across Canada and Europe, PROMOT is laying the foundation for improved patient monitoring and new avenues for treatment development.
Stay tuned for more updates on PROMOT’s ongoing work to advance research and improve outcomes for people living with rare NMDs.
European Joint Programme on Rare Diseases (EJP RD):
European Rare Diseases Research Alliance:
