Ketoacidosis is an important but under-recognized complication of neuromuscular disease, in particular spinal muscular atrophy. This easily treatable condition is largely overlooked in best practice guidelines, and lack of awareness contributes to adverse outcomes in this patient population. Neuromyopathy associated ketosis should be considered in all patients with severe muscle wasting presenting with an elevated anion gap metabolic ketoacidosis. Treatment is simple, effective, and should be instituted early. Our report of a 50-year-old patient with type 2 spinal muscular atrophy who presents with recurrent ketoacidosis aims to increase awareness of neuromyopathy associated ketosis as a clinical entity, and to enhance its early recognition and timely treatment in order to improve patient outcomes.
Keywords: Myopathy; acid-base equilibrium; acidosis; ketosis; muscular atrophy; spinal.