Heterogeneous Presentations and Serologies in Myasthenia Gravis Patients Presenting with Dysphagia

Myasthenia gravis (MG) is an autoimmune disease that affects the neuromuscular junction. MG patients may present de novo with primary otolaryngology complaints, including swallowing dysfunction. This study describes a range of unique presentations and rare diagnostic serologies, which have not previously been fully described.

A retrospective review was performed of all patients presenting with primary symptom of dysphagia and subsequently diagnosed with MG. Data collected included demographics, clinical presentation, swallow studies, serology, imaging, treatment, and response.

Five patients met the inclusion criteria. Four endorsed dysphagia as primary complaint and one endorsed dysphagia and dysphonia. All patients underwent in-office swallow evaluations that showed vallecular or pyriform sinus residue. Three patients completed modified barium swallow studies that showed pharyngeal weakness and epiglottic dysfunction in all, and upper esophageal sphincter dysfunction in two. One patient with additional symptom of dyspnea was admitted and found to be in myasthenic crisis. Upon serologic evaluation, three patients were positive for acetylcholine receptor (AChR) antibodies only, one for muscle-specific-kinase (MuSK) antibodies only, and one for low density lipoprotein receptor-related protein 4 (LRP4) antibodies only. All patients received neurology evaluation and were treated with steroids, pyridostigmine, plasma exchange, or rituximab. In three patients with over 1 year follow-up, symptoms were significantly improved or resolved.

MG is an important differential diagnosis in patients with unexplained pharyngeal dysphagia. While workup can include AChR antibody screening, in seronegative patients with persistent symptoms, additional testing for MuSK and LRP4 may lead to diagnosis and effective treatment.

4 Laryngoscope, 134:4903-4910, 2024.