Nemaline Myopathy as a Cause of Sleep Hypoventilation
1 The Pulmonary Function Laboratory and Department of Pediatrics, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel
Two siblings, a 14.5-year-old boy and his 11.5-year-old sister, with congenital nemaline myopathy presented with severe respiratory failure and, in the case of the older patient, with cor pulmonale and systemic hypertension. The children were treated initially by continuous mechanical ventilation, but after a few weeks they only required ventilation at night. At the start of treatment, both were found to have a decreased ventilatory response to CO2 which apparently improved during 4 to 5 years of follow-up treatment. It has not been possible to wean them from nocturnal mechanical ventilation, but during the daytime they attend school and function almost normally. It is postulated that respiratory failure in nemaline myopathy may not be related to the severity of the muscle weakness but may result from a disturbance of the feedback required for normal control of breathing.
Key Words: nemaline myopathy respiratory failure sleep apnea breathing control lung function
Submitted on March 8, 1985
Accepted on May 14, 1985




