Journal of the Neurological Sciences, 1983, 60:117-125 117 Elsevier SLEEP STRUCTURE AND NOCTURNAL DISORDERED BREATHING 1N FAMILIAL DYSAUTONOMIA NATAN GADOTH 2, JACOB SOKOL 1 and PERETZ LAVIE 3 IDepartment of Pediatrics, Carmel Hospital, and 3the Unit of Behavioral Biology, Faculty of Medicine, Technion - Israel Institute of Technology, and 2Department of Neurology, Beilinson Medical Center, Petach Tiqva and the Sackler School of Medicine, Tel-Aviv University, Tel Aviv (Israel) (Received 9 August, 1982) (Revised, received 5 January, 1983) (Accepted 12 January, 1983) SUMMARY In 13 patients with familial dysautonomia sleep recordings were obtained to investigate the possibility that autonomic nervous system dysfunction plays a role in disordered breathing during sleep. Sleep structure in some of our patients was abnormal, showing decreased amount of REM sleep and increased REM latencies. All patients showed breathing disorders in sleep. The average number of apneic spells was 73.4 per night; 77~o of the patients had more than 50 apneic spells per night. Abnormal breathing patterns were not uniform and were independent of patients' primary complaints. Typically, even severe respiratory irregularities were not associated with the usual cardiac response, indicating that our patients had "cardiac dysautonomia". INTRODUCTION Familial dysautonomia (FD) is a well-defined clinical entity with an auto- somal recessive inheritance (Brunt and McKusick 1974). The variety of symptoms suggest a genetic disorder affecting several organ systems. In addition to the promi- nent autonomic nervous system disorder, neuromuscular, cardio-vascular, skeletal, renal and respiratory abnormalities also exist. Severe breath holding spells (BHS) during early childhood (Riley 1957; McKusick et al. 1967) and an outstanding ability of the patients to hold their Correspondence and reprints: Dr. Peretz Lavie, Sleep Laboratory, Unit of Behavioral Biology, Faculty of Medicine, Technion, Haifa 32000, Israel. 0022-510X/83/$03.00 © 1983 Elsevier Science Publishers B.V.