After discovering she’s a carrier for Congenital Myasthenic Syndromes, host Kira Dineen sought out to learn more. She met a leading expert in CMS, Dr. Hanns Lochmüller.

Dr. Lochmüller is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare diseases. He is a Senior Scientist at CHEO Research Institute. He is also a Professor of Neurology at the University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine.

CMS is a group of rare inherited neuromuscular conditions caused by defects at the neuromuscular junction. While CMS shares similarities with Myasthenia Gravis (MG), it has distinct genetic causes and onset patterns that make diagnosis and treatment challenging.

Dr. Lochmüller walks us through the evolution of CMS research, highlighting the advances made possible by new sequencing technologies. Thirty years ago, only two genes were known to cause CMS; now, there are 35 identified genetic causes. This episode offers a comprehensive look at CMS symptoms, diagnostic approaches, and treatment strategies, as well as the important role genetic testing plays in accurately diagnosing and managing CMS.

Topics Covered in This Episode:

• Dr. Lochmüller’s Background and Expertise: How his work in CMS has evolved over the past 30 years.
• Key Differences Between CMS and Myasthenia Gravis (MG): The autoimmune vs. genetic origins, age of onset, and differences in symptoms between the two conditions.
• Genetic Testing for CMS: How advancements in genetic testing have transformed the diagnosis of CMS and allowed clinicians to better differentiate it from other neuromuscular disorders.
• Challenges in Diagnosing CMS: Why some patients are misdiagnosed with muscular dystrophies or unspecific myopathies, and how larger neuromuscular panels and exome sequencing are improving diagnosis.
• Common Symptoms of CMS: Ptosis, muscle weakness, and fatigue are key indicators, often seen in the absence of muscle degeneration.
• Treatment Approaches for CMS: How treatment depends on the genetic mutation, with drugs like Mestinon benefiting some patients but worsening symptoms in others, such as those with DOK7-related CMS.
• The Role of Repetitive Nerve Stimulation Tests: How this diagnostic tool helps identify neuromuscular transmission defects.
• Importance of Genetic Diagnosis: How a full genetic diagnosis can provide clarity for patients and improve quality of life by guiding targeted treatment options.
• Treatabolome Database: A resource that links specific genetic mutations to the most effective treatments for CMS.

Dr. Lochmüller also shares insights into the variability of CMS symptoms and the resilience of patients living with the condition. He highlights the importance of a genetic diagnosis, as it often brings relief and provides a roadmap for effective management of the disease.

Learn more about ongoing research in CMS here.

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