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Eyelid twitching in MuSK-myasthenia gravis
Vasiliki Zouvelou1, Dimitra Tzavella2, Thomas Zambelis3
11st Neurology Department, Eginition Hospital, National and Kapodistrian University of Athens, ERN EURO-MND, 72-74 Vas. Sophias Ave., 11528, Athens, Greece. vzouvelu@med.uoa.gr.
Acta Neurologica Belgica
|June 17, 2025
Summary
Persistent eyelid twitches in a MuSK-myasthenia gravis patient indicated cholinergic hyperactivity. This suggests MuSK antibodies may cause acetylcholine breakdown issues, impacting treatment strategies for myasthenia gravis.
Area of Science:
- Neurology
- Immunology
Background:
- Myasthenia gravis (MG) is an autoimmune disorder affecting neuromuscular transmission.
- Muscle-specific kinase (MuSK) antibodies are implicated in a subset of MG cases.
- Cholinergic hyperactivity is not a typical presentation in MG.
Purpose of the Study:
- To investigate the clinical significance of cholinergic hyperactivity in MuSK-antibody-positive myasthenia gravis.
- To explore the underlying mechanisms of acetylcholine metabolism in this specific MG subtype.
Main Methods:
- Case report of a 22-year-old female with MuSK-MG.
- Clinical observation of fatigable ptosis, bulbar symptoms, and eyelid twitches.
- Analysis of the potential link between MuSK antibodies and acetylcholine breakdown.
Main Results:
- The patient exhibited persistent bilateral eyelid twitches, exacerbated by eye closure and orbicularis oculi contraction.
- These twitches were interpreted as signs of cholinergic hyperactivity.
- No acetylcholinesterase inhibitor treatment had been administered.
Conclusions:
- Clinical signs of cholinergic hyperactivity in myasthenia gravis may indicate MuSK antibody seropositivity.
- MuSK antibodies disrupt the MuSK-collagen Q interaction, impairing acetylcholinesterase binding and acetylcholine breakdown.
- Recognition of cholinergic hyperactivity has therapeutic implications for managing MuSK-MG.
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