Pedroso José Luiz, Braga-Neto Pedro, Martinez Alberto R M, Martins Carlos R, Rezende Filho Flávio M, Sobreira-Neto Manoel A, Prado Lucila B F, do Prado Gilmar F, França Marcondes C, Barsottini Orlando G P
aDivision of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, São Paulo bDivision of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará cCenter of Health Sciences, Universidade Estadual do Ceará, Ceará, Fortaleza dDepartment of Neurology, Universidade Estadual de Campinas, São Paulo, Campinas eUniversity of Fortaleza, Ceará, Fortaleza fNeuro-Sono Sleep Center, Department of Neurology, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil.
Curr Opin Psychiatry. 2016 Nov;29(6):402-8. doi: 10.1097/YCO.0000000000000287.
This article provides a description on clinical features and pathophysiology of the main sleep disorders observed in Machado-Joseph disease (MJD).
Pathological studies have clearly demonstrated that degenerative process in MJD is widespread in the nervous system, and not restricted to the cerebellum. Nonmotor manifestations are frequent and may include pain, cramps, dysautonomia, cognitive deficits, psychiatric manifestations, olfactory deficits, fatigue, nutritional issues, and sleep disorders.
Sleep disorders are frequent in MJD, and include restless legs syndrome, rapid eye movement sleep behavior disorder, excessive daytime sleepiness, insomnia, sleep apnea, periodic limb movements during sleep, parasomnia, and others. Pathophysiological mechanisms related to sleep disorders in Machado-Joseph are complex and poorly understood. Considering that sleep complaints are a treatable condition, recognizing sleep disorders in MJD is relevant.
本文描述了马查多-约瑟夫病（MJD）中观察到的主要睡眠障碍的临床特征和病理生理学。
病理研究清楚地表明，MJD中的退行性过程在神经系统中广泛存在，并不局限于小脑。非运动症状很常见，可能包括疼痛、痉挛、自主神经功能障碍、认知缺陷、精神症状、嗅觉缺陷、疲劳、营养问题和睡眠障碍。
睡眠障碍在MJD中很常见，包括不宁腿综合征、快速眼动睡眠行为障碍、日间过度嗜睡、失眠、睡眠呼吸暂停、睡眠期间周期性肢体运动、异态睡眠等。与马查多-约瑟夫病睡眠障碍相关的病理生理机制复杂且了解甚少。鉴于睡眠问题是一种可治疗的病症，识别MJD中的睡眠障碍具有重要意义。
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