Chronic mimics of myasthenia gravis: a retrospective case series

Myasthenia gravis often presents a diagnostic challenge and may be misdiagnosed, particularly in seronegative disease with active symptoms. We retrospectively evaluated 61 patients following the introduction of single fibre electromyography at our service, and identified 8 mimics which had been inappropriately diagnosed and treated as refractory myasthenia gravis. 6 of these were seronegative, but two had positive acetylcholine receptor (AChR) antibodies. The final diagnoses included one case each of chronic progressive external ophthalmoplegia, chronic ptosis, oculopharyngeal muscular dystrophy, and an undifferentiated disorder suspicious for either a mitochondrial cytopathy or low-grade myositis. Four were diagnosed with functional neurological disorder, one of which had a superimposed thyroid myopathy and orbitopathy. We found the average duration of misdiagnosis was 9 years (SD±5.2, median 11 years), and patients were often exposed to years of unnecessary treatment. All patients had received anticholinesterase therapy, three had immunotherapy, and three surgical interventions were performed including two thymectomies. We found myasthenic mimics should be suspected in disease that is static and treatment refractory, and functional mimics in disease with frequent flares. Thorough neurophysiologic assessment is important, particularly when making a diagnosis of seronegative myasthenia gravis.