Evaluation of Neuromuscular Disease in Adults Presenting with Dyspnea

Neuromuscular disorders in adults can present with a wide array of clinical features and vary from acute life-threatening complications such as respiratory failure to slow progressive weakness and comorbidity. Common to most of these disorders are symptoms of weakness and dyspnea. Many patients with occult neuromuscular disorders will be evaluated for underlying cardiac and pulmonary disease by primary care and subspecialty providers and can experience delays in diagnosis due to challenges in attaining early neurological testing and recognizing vague symptoms as potentially arising from the neuromuscular apparatus. Additionally, many adults who develop neuromuscular disorders have concomitant cardiac or pulmonary disease and the presence of dyspnea or limitations in mobility are often attributed to these without pursuing further workup. We outline a review of neuromuscular diseases in adults and an approach to evaluation.