Myasthenic syndromes: mistaking genetic for acquired
Henehan, Leighann Rossini, Elena Platt, Sarah Dong, Yin Yao Beeson, David Leite, Maria Palace, Jacqueline
Henehan, Leighann
Rossini, Elena
Platt, Sarah
Dong, Yin Yao
Beeson, David
Leite, Maria
Palace, Jacqueline
Glos Author
Date
2025-07-22
Journal Title
Type
Journal Article
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Abstract
Congenital myasthenic syndromes (CMS) are a rare, heterogeneous group of disorders caused by pathogenic variants in genes encoding proteins essential for neuromuscular transmission. DOK7 variants are among the most common causes of CMS and one of the subtypes that may worsen with pyridostigmine. We report two patients who presented in adulthood with fatigable limb girdle weakness, initially diagnosed with seronegative myasthenia gravis, who slowly progressed over time despite escalating treatment and eventually needed intensive care admission. Revisiting the history led to the diagnosis of DOK7 CMS. Both patients improved after stopping immunosuppressants and pyridostigmine and starting salbutamol. These cases highlight the importance of considering CMS in patients with seronegative myasthenia gravis.
Citation
Henehan, L., Rossini, E., Platt, I. S., Dong, Y. Y., Beeson, D., Fuller, G. N., Leite, M. I., & Palace, J. (2025). Myasthenic syndromes: mistaking genetic for acquired. Practical neurology, pn-2025-004528. Advance online publication. https://doi.org/10.1136/pn-2025-004528