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 facioscapulohumeral 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 noninvasive 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.

Myopathies in the Intensive Care Unit

“…-Inflammatory myopathies 2223 -Alcoholic rhabdomyolysis' 5 -Myotonic dystrophy 25 -Periodic paralyses -Malignant hyperthermia 21 -Acquired hypokolemic weakness 15 -Acid maltase deficiency 614 -Mitochondrial myopathies 17 -Limb girdle muscular dystrophy 18 -HIV related myopathy 19 -Trichinosis 25 -Sarcoid myopathy 20 -Carnitine palmitoyl transferase deficiency 16 -Hypophosphatemic myopathy 15 -24 Myopathies that develop in the intensive care unit: -Necrotizing myopathy associated with non-depolarizing muscle blocking agents 2629 -Acute steroid myopathy 2728 -Septic myopathy 39 -Myopathy of critical illness 39 -Hypophosphatemia 15 -24…”

“…There are a variety of other myopathies that rarely might render enough weakness to place the patient in an intensive care unit. These might include: a rhabdomyolytic syndrome from hypokalemia, 15 myopathy associated with carnitine palmitoyl transferase deficiency, 16 certain mitochondrial myopathies, 17 limb girdle muscle dystrophy, 18 HIV myopathy 19 and sarcoid myopathy involving the diaphragm. 20 Patients with malignant hyperthermia may be admitted to an intensive care unit during crisis.…”