J Neuromuscul Dis. 2016 Aug 30;3(3):419-423. doi: 10.3233/JND-160171.
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.
酮症酸中毒是神经肌肉疾病（尤其是脊髓性肌萎缩症）的一种重要但未被充分认识的并发症。这种易于治疗的病症在最佳实践指南中基本被忽视，而这种缺乏认识导致该患者人群的不良后果。在所有出现阴离子间隙升高代谢性酮症酸中毒的严重肌肉消耗的患者中，均应考虑与神经肌肉病相关的酮症。治疗简单、有效，应及早开始。我们报告了一例 50 岁 2 型脊髓性肌萎缩症患者，其反复发生酮症酸中毒，旨在提高对与神经肌肉病相关的酮症作为一种临床实体的认识，并增强其早期识别和及时治疗，以改善患者的预后。
