Atypical Presentation of Myasthenia Gravis and Importance of Early Diagnosis


A expert discusses atypical presentation of myasthenia gravis and importance of early diagnosis and treatment.

This is a video synopsis of a discussion involving Neelam Goyal, MD, focusing on the atypical presentations of myasthenia gravis (MG) and their implications for diagnosis and treatment. Dr. Goyal highlights that approximately 5% of MG cases present without ocular or bulbar symptoms, solely exhibiting muscle weakness, making diagnosis challenging due to the absence of the classic ocular signs associated with MG.

She emphasizes key features that should alert clinicians to consider MG in patients without ocular symptoms, such as abnormalities on examination, lower motor neuron signs without hyperreflexia or spasticity, and negative routine nerve conduction studies. Dr. Goyal underscores the importance of considering MG when routine tests for nerve and muscle diseases are negative, advocating for antibody testing and specialized electrodiagnostic studies like repetitive nerve stimulation or single fiber EMG.

Dr. Goyal explores atypical presentations documented in the literature, including post-COVID MG cases, isolated syndromes like neck drop, and cases in the ICU presenting with failure to wean, highlighting the diverse ways MG can manifest.

She stresses the significance of early MG diagnosis, as effective treatments are available. Dr. Goyal advises clinicians to maintain a high index of suspicion for MG, especially in neuromuscular clinics where atypical presentations are encountered. Once diagnosed, treatment strategies are influenced by seropositivity or seronegativity, with seropositive patients having access to newer therapies, while seronegative cases are managed with conventional treatments based on disease severity.

In conclusion, Dr. Goyal emphasizes the need to consider MG in atypical presentations, perform appropriate diagnostic tests, and tailor treatment based on serological status and disease severity, highlighting the potential for favorable outcomes with early and accurate diagnosis.

Video synopsis is AI-generated and reviewed by NeurologyLive® editorial staff.

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