CHRONIC RESPIRATORY-FAILURE IN LIMB-GIRDLE MUSCULAR-DYSTROPHY - SUCCESSFUL LONG-TERM THERAPY WITH NASAL BILEVEL POSITIVE AIRWAY PRESSURE

Chronic respiratory failure is a major factor contributing to mortalit y in progressive neuromuscular disorders. Among the muscular dystrophi es, respiratory failure most commonly occurs with Duchenne dystrophy, while in Becker, limb-girdle, and facioscapulohumeral dystrophies, res piratory failure is infrequent and generally occurs in the more severe cases that have progressed to a nonambulatory, advanced functional st age. We report two brothers with a myopathic disease in which the dist ribution of weakness, initial clinical course, heredity, and muscle pa thology most closely resembled a limb-girdle type of dystrophy. Both b rothers, however, presented with chronic alveolar hypoventilation and respiratory failure when their locomotor disabilities were still mild. Respiratory failure was reversed, and satisfactory ventilation has be en maintained for more than a year using a type of noninvasive intermi ttent positive pressure ventilation, with a bilevel positive airway pr essure device (Bi-PAP), administered through a nasal mask during sleep ing hours. These cases demonstrate an unusual presentation of limb-gir dle dystrophy, and document that nocturnal, nasal administration of co ntinuous airway pressure using the Bi-PAP device may be sufficient to maintain adequate long-term ventilation in some patients with neuromus cular causes of respiratory failure, and thus significantly improve qu ality of life and delay the need for more complex or invasive forms of assisted ventilation.