出版社：Brazilian Association of Sleep and Latin American Federation of Sleep Societies
摘要：Charcot-Marie-Tooth (CMT) disease is the most prevalent hereditary motor and sensory polyneuropathy in which sleep has rarely been studied, mainly the type 2 (CMT2). Thus, we aimed to characterize the sleep patterns of a family affected by CMT2 disease. Methods Sixteen volunteers with CMT2 from the same multigenerational family agreed to participate in the study (refusal rate¼62%). All participants answer sleep questionnaires and came to the sleep laboratory to perform a basal polysomnography (PSG). Clinical manifestation and severity of the disease were also evaluated. Results The sample was characterized by 56% men, with mean age of 32717 years, being all eutrophic, and 64% with moderate to severe CMT2. Regarding subjective sleep, 44% had excessive daytime sleepiness and 56% reported bad sleep quality. The PSG results revealed that CMT2 patients had increase of N3 stage and reduction of REM sleep in addition to high arousal index. Although 81% of patients were snorers, only 13% had apnea-hypopnea index (AHI)45. However, a positive correlation was found between the severity of disease and the AHI.
