Congenital myasthenic syndromes: a review of the problem and clinical case | Ukrainian Medical Journal

Congenital myasthenic syndromes (CMS) represent a group of rare inherited disorders of neuromuscular transmission caused by mutations in genes encoding proteins essential for synapse function. CMS is characterized by a variable clinical presentation, including muscle weakness, fatigability, oculomotor disturbances, bulbar syndrome, and respiratory disorders. Unlike autoimmune myasthenia, CMS is not associated with antibodies against acetylcholine receptors and does not respond to immunosuppressive therapy. The diagnosis of CMS is based on electrophysiological studies and genetic analysis, allowing the identification of mutations in genes such as CHRNE, RAPSN, COLQ, DOK7, CHAT, AGRN, SLC5A7, and others. A clinical case of a patient with CMS associated with a RAPSN mutation is presented, illustrating the diagnostic challenges and the effectiveness of pathogenetically based therapy.

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