Managing the patient with neuromuscular disease and respiratory insufficiency.

Though the development of physical limitations associated with neuromuscular disease is often apparent to the clinician, the development of neuromuscular-induced respiratory muscle weakness can be insidious. Respiratory muscle weakness is often overlooked by the clinician, particularly when weakness of the extremities limits physical exertion and no respiratory compensation for exertion is required. Patients with neuromuscular disease are often not found to have respiratory insufficiency until they present in the emergency department with acute respiratory failure secondary to pulmonary congestion resulting from respiratory infection and inadequate cough clearance. Early symptoms of neuromuscular respiratory insufficiency are more often associated with the onset of sleep-disordered breathing.1 On finding symptoms of neuromuscular weakness the clinician should question the patient about symptoms of sleep-disordered breathing and developing dyspnea when supine or with exertion. A comprehensive neuromuscular respiratory evaluation should also be done as a baseline for serial assessment of chronic progressive insufficiency, to support preventive out-patient respiratory care.2,3 In this issue of RESPIRATORY CARE, Kelly et al4 describe a rare adult-onset presentation of nemaline myopathy, a muscle disease that can affect the respiratory muscles. In this case the patient was referred by his primary care provider to a respiratory clinic after developing cough and dyspnea on exertion. Although the patient presented with chronic hypercapnic respiratory failure, the immediate use of noninvasive ventilation (NIV) relieved his symptoms and reversed the chronic alveolar hypoventilation, as evidenced by improved arterial blood gas values.