# Myasthenia Crisis as First Presentation of MuSk Positive Myasthenia Gravis: A Case Report

**Authors:** Dipesh Chhetri, Amit Sharma Bhattarai, Pankaj Joshi, Kriti Thapa

PMC · DOI: 10.31729/jnma.8896 · JNMA: Journal of the Nepal Medical Association · 2025-03-31

## TL;DR

A 57-year-old woman's first symptom of Myasthenia Gravis was a myasthenia crisis with severe respiratory issues, highlighting the importance of considering atypical presentations.

## Contribution

This case report emphasizes the need to consider Myasthenia Gravis in patients with unexplained respiratory failure and atypical symptoms.

## Key findings

- The patient presented with severe respiratory acidosis and failed extubation, leading to a diagnosis of MuSk-positive Myasthenia Gravis.
- Classical symptoms of Myasthenia Gravis were absent at presentation, complicating the initial diagnosis.
- The case underscores the importance of neurological evaluation in atypical respiratory presentations.

## Abstract

We report a unique presentation of a 57-year-old female presented with severe respiratory acidosis, which was found to be a case of Musk-positive Myasthenia Gravis. Patient presented with depressed level of consciousness and respiratory failure, mandating urgent ventilatory support. She responded well with positive pressure ventilation. However, she persistently failed to maintain adequate ventilation after extubation and had to be reintubated. At presentation, the absence of classical symptoms typical of Myasthenia Gravis posed a diagnostic dilemma, initially obscuring the underlying etiology. However, since there was no other identifiable cause for the inability to maintain ventilation, antibody panels were sent which turned out positive for Muscle specific kinase. This case thus highlights the significance of considering atypical neuromuscular presentations, particularly when respiratory compromise is the predominant manifestation, highlighting the necessity for comprehensive neurological evaluation even in the absence of classical symptoms for timely diagnosis and management of Myasthenia Gravis.

## Linked entities

- **Diseases:** Myasthenia Gravis (MONDO:0009688)

## Full-text entities

- **Genes:** MUSK (muscle associated receptor tyrosine kinase) [NCBI Gene 4593] {aka CMS9, FADS}
- **Diseases:** respiratory failure (MESH:D012131), consciousness (MESH:D003244), depressed (MESH:D003866), respiratory acidosis (MESH:D000142), Myasthenia Gravis (MESH:D009157), Myasthenia (MESH:D020294)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

12 references — full list in the complete paper: https://tomesphere.com/paper/PMC12122266/full.md

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Source: https://tomesphere.com/paper/PMC12122266