SLEEP STUDIES AND SUPPORTIVE VENTILATORY TREATMENT IN PATIENTS WITH CONGENITAL MUSCLE DISORDERS

Eight ambulant children aged 6-13 years, four with congenital myopathy , two with congenital muscular dystrophy and two with the rigid spine syndrome, presented with recurrent chest infections, morning headaches , shallow breathing at night, or respiratory failure. Polysomnography confirmed the presence of nocturnal hypoxaemia with oxygen saturation on average less than 90% for 49% of sleep and less than 80% for 19% of sleep accompanied with severe hypoventilation. Additionally there was sleep disturbance characterised by an increased number of wake epochs from deep sleep (in comparison to 10 non-hypoxaemic subjects). The se verity of sleep hypoxaemia did not correlate with symptoms. Treatment with night time nasal ventilation was started and repeat polysomnograp hy showed normal overnight oxygen saturation and a reduced number of w ake epochs during deep sleep. It is important to be vigilant for sleep hypoventilation in these patients and sleep studies should be part of the routine respiratory evaluation. Treatment with nasal ventilation is effective in reversing the nocturnal respiratory failure without si gnificant disturbance to life style.