Riley D J, Santiago T V, Daniele R P, Schall B, Edelman N H
Am J Med. 1977 Sep;63(3):459-66. doi: 10.1016/0002-9343(77)90286-8.
Two patients with clinically mild congenital myopathies presented with chronic respiratory failure. Muscle weakness alone could not account for the respiratory insufficiency since static respiratory pressures were not markedly impaired, ventilation during exercise was normal, and daytime ventilation was normal if ventilatory assistance was provided at night. The ventilatory responses to inhaled carbon dioxide were very low, suggesting that impairment of the central nervous respiratory chemoreceptor contributed to hypoventilation. These patients and others described in the literature suggest that central depression of ventilation may occur more frequently than previously recognized in patients with muscular disorders. Patients with chronic respiratory failure due to central depression of respiratory drive can be effectively managed by assisted ventilation at night.
两名临床症状较轻的先天性肌病患者出现慢性呼吸衰竭。仅肌肉无力无法解释呼吸功能不全，因为静态呼吸压力未明显受损，运动时通气正常，且如果夜间提供通气辅助，白天通气也正常。对吸入二氧化碳的通气反应非常低，提示中枢神经呼吸化学感受器受损导致通气不足。这些患者以及文献中描述的其他患者表明，通气中枢抑制在肌肉疾病患者中可能比以前认识到的更常见。因呼吸驱动中枢抑制导致慢性呼吸衰竭的患者可通过夜间辅助通气得到有效治疗。
