The Neuromuscular Disease Network for Canada

Can-GARD/CCMG The Leading Strand Series

NMD4C Lead Investigator Dr. Hanns Lochmüller presenting on Genetic disorders of neuromuscular transmission – congenital myasthenic syndromes

January 29, 2021 12:00pm EST

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The Leading Strand webinar series is designed for genetics health professionals, led by the Canadian College of Medical Genetics and co-sponsored by Can-GARD. Speakers will be translation-focused researchers, clinicians and innovators. The series will help attendees anticipate, access, and apply new approaches and technologies for patient care.

Genetic disorders of neuromuscular transmission – congenital myasthenic syndromes

Neuromuscular junction disorders are a heterogeneous group of acquired (Myasthenia Gravis, MG) and inherited (Congenital Myasthenic Syndromes, CMS) disorders associated with distinctive clinical, electrophysiological, laboratory and ultrastructural abnormalities. The genetic defects in CMS either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. More recently, we have identified two genes (DOK7, GFPT1) that cause fatigable weakness of muscles in a limb-girdle distribution, but rarely affecting facial or eye muscles. Next-generation sequencing and deep phenotyping, in combination with international data sharing, reveals new genetic causes of CMS, but also unusual, overlapping clinical phenotypes which blur the boundaries with primary myopathies and motor neuropathies. This highlights the importance of sharing genomics data for diagnosis and research through a secure platform such as RD-Connect.

Dr. Lochmüller will cover the significant progress made in understanding the molecular pathogenesis of CMS, which is important for both patients and clinicians in terms of reaching a definite diagnosis and selecting the most appropriate treatment.