Chronic respiratory failure in limb-girdle muscular dystrophy: Successful long-term therapy with nasal bilevel positive airway pressure

Abstract

Chronic respiratory failure is a major factor contributing to mortality in progressive neuromuscular disorders. Among the muscular dystrophies, respiratory failure most commonly occurs with Duchenne dystrophy, while in Becker, limb-girdle, and facioscapulo-humeral dystrophies, respiratory failure is infrequent and generally occurs in the more severe cases that have progressed to a nonambulatory, advanced functional stage. We report two brothers with a myopathic disease in which the distribution of weakness, initial clinical course, heredity, and muscle pathology most closely resembled a limb-girdle type of dystrophy. Both brothers, however, presented with chronic alveolar hypoventilation and respiratory failure when their locomotor disabilities were still mild. Respiratory failure was reversed, and satisfactory ventilation has been maintained for more than a year using a type of non-invasive intermittent positive pressure ventilation, with a bilevel positive airway pressure device (Bi-PAP), administered through a nasal mask during sleeping hours. These cases demonstrate an unusual presentation of limb-girdle dystrophy, and document that nocturnal, nasal administration of continuous airway pressure using the Bi-PAP device may be sufficient to maintain adequate long-term ventilation in some patients with neuromuscular causes of respiratory failure, and thus significantly improve quality of life and delay the need for more complex or invasive forms of assisted ventilation.