Isolated Respiratory Failure as the Presenting Symptom of Muscle-Specific Kinase Myasthenia Gravis: A Case Report and Literature Review.

Introduction: Anti-MuSK antibodies obstruct MuSK binding sites, leading to acetylcholine receptor (AChR) displacement within the postsynaptic membrane. MuSK MG patients often exhibit bulbar involvement and respiratory crises, setting them apart from other MG subtypes.

Case presentation: A case of a 51-year-old male with MuSK MG that presented as isolated respiratory failure was compared to similar cases in the literature. The objectives were to explore the varied clinical presentations, treatment approaches, and outcomes, and to better understand the management of this subgroup of MG. The patient responded well to treatment with pyridostigmine, steroids, and intravenous immunoglobulins and immunosuppressive therapy.

Conclusion: A review of the literature revealed varied clinical presentations and treatment approaches among reported cases. Long-term prognosis appears favorable, requiring ongoing immunosuppressive management. Although the reported outcomes of MuSK MG patients with respiratory insufficiency show substantial heterogeneity, long-term prognosis appears favorable.