A familial awake movement disorder mimicking restless legs in a sleep apnea patient.

We report on a patient with sleep apnea and an unusual familial movement disorder. The movements were present only during wakefulness and nocturnal arousals caused by disordered breathing. A 27-year-old obese man was referred with sleep onset insomnia, symptoms suggesting restless legs syndrome, daytime sleepiness, loud snoring and awakening with choking sensations. He was proven to have obstructive sleep apnea (apnea hypopnea index = 60.6). He also had a daytime movement disorder that was characterized by almost continuous stereotypic tapping of one or both legs. The movements were suppressible and not associated with any unpleasant or abnormal leg sensation. Virtually identical movements were present in three generations of his family. The severity of the movements did not worsen late in the day or with supine posturing. The nocturnal movements, consisting of a visible shaking of one or both legs, occurred only during arousals secondary to the apnea, had a mean duration of 5.7 +/- 3.0 (standard deviation) seconds and could not be defined as periodic limb movements in sleep (PLMS). Successful treatment of apnea by nasal continuous positive airway pressure dramatically reduced the movements during sleep (from 88.2 to 1.9 per hour). The clinical significance and the mechanism of this movement disorder is unknown. We discuss the features inconsistent with restless legs syndrome and consider other possible phenomenology, including akathisia. We conclude that this patient may have a previously unreported familial movement disorder and in addition developed the sleep apnea syndrome related to obesity.