Understanding and Managing Congenital Myasthenic Syndrome

Created using ChatSlide

This presentation provides a comprehensive overview of a patient's case, starting with initial observations such as difficulty with eye movement and potential muscle hypotonia. Imaging and investigations reveal complex findings, including nonspecific lesions on a CT scan and white matter changes on an MRI. The primary suspicion is Congenital Myasthenic Syndrome (CMS), presenting with proximal motor weakness and craniofacial dysmorphism. The proposed treatment plan involves adjustments to...