Assessment of sleep studies in myotonic dystrophy

Myotonic dystrophy (MD) is the commonest adult muscular dystrophy and is associated with respiratory muscle weakness. The role of screening sleep studies is unclear in MD. We prospectively evaluated polysomnography/overnight oximetry in a group of MD patients and related this to the daytime respiratory function in an attempt to evaluate the usefulness of screening sleep studies. Twenty-five patients with type I MD [15 males; mean age (SD) 40.0 (10.9) years] who had at least one symptom suggestive of nocturnal hypoventilation were included in the study. We performed spirometry, maximal inspiratory and expiratory mouth pressures, sniff nasal inspiratory pressure, arterial blood gases and polysomnography or overnight oximetry. Excessive tiredness and sleepiness were the most common presenting symptoms. Prevalence of sleep related breathing disorder (SRBD) was 36%. FVC was found to be normal in 33% of subjects with significant SRBD. Mouth pressures were reduced more than FVC, even in patients with normal overnight oxygen saturation. Of all the daytime measures, FVC correlated best with arterial carbon dioxide tension (r = -0.7). Sleep studies were useful to identify a small group of myotonic dystrophy patients (12%, three out of 25 in our series) with SRBD that would have been missed with routine daytime assessments. Targeted sleep monitoring in patients who are older, with multiple symptoms suggestive of SRBD, especially if they are overweight seems to be the best way to utilize the existing resources. Home unattended oximetry was well tolerated and offers a practical screening tool in this challenging patient group where excess daytime sleepiness is often due to causes other than SRBD.