Publication:

Breath of hope: unravelling isolated respiratory paralysis through anti musk positive myasthenia gravis

Isolated respiratory paralysis is a rare and perplexing clinical presentation that demands an astute diagnostic investigation. We present a case of 28-year-old woman who presented with sudden onset severe respiratory distress, with no overt signs of generalized muscle weakness, no cranial nerve dysfunction, or any other focal neurological deficit. The initial clinical scenario posed a diagnostic challenge, as the absence of typical myasthenia gravis features led to a myriad of differential considerations. However, through meticulous clinical evaluation, neurophysiological studies, and antibody testing, we unraveled the underlying cause-MuSK positive Myasthenia gravis. Unlike the more common acetylcholine receptor (AchR) positive MG, MuSK positive MG often presents with isolated respiratory involvement posing diagnostic hurdles. Though patient eventually succumbed owing to ventilator associated pneumonia and sepsis, this case exemplifies the necessity of a comprehensive diagnostic approach, even in the face of uncommon presentations, and underscores the importance of tailored therapeutic strategies in improving patient outcomes.