Romigi A, Albanese M, Liguori C, Placidi F, Marciani M G, Massa R
University of Rome "Tor Vergata", Policlinico Tor Vergata, Department of Systems Medicine, Section of Neurophysiopathology, Sleep and Epilepsy Centre, 00133 Rome, Italy.
University of Rome "Tor Vergata", Policlinico Tor Vergata, Department of Systems Medicine, Section of Neurosciences, 00133 Rome, Italy ; Fondazione S. Lucia IRCCS, 00100 Rome, Italy.
J Neurodegener Dis. 2013;2013:692026. doi: 10.1155/2013/692026. Epub 2013 Nov 4.
Myotonic dystrophy is the most common type of muscular dystrophy in adults and is characterized by progressive myopathy, myotonia, and multiorgan involvement. Two genetically distinct entities have been identified, myotonic dystrophy type 1 (DM1 or Steinert's Disease) and myotonic dystrophy type 2 (DM2). Myotonic dystrophies are strongly associated with sleep dysfunction. Sleep disturbances in DM1 are common and include sleep-disordered breathing (SDB), periodic limb movements (PLMS), central hypersomnia, and REM sleep dysregulation (high REM density and narcoleptic-like phenotype). Interestingly, drowsiness in DM1 seems to be due to a central dysfunction of sleep-wake regulation more than SDB. To date, little is known regarding the occurrence of sleep disorders in DM2. SDB (obstructive and central apnoea), REM sleep without atonia, and restless legs syndrome have been described. Further polysomnographic, controlled studies are strongly needed, particularly in DM2, in order to clarify the role of sleep disorders in the myotonic dystrophies.
强直性肌营养不良是成人中最常见的肌营养不良类型，其特征为进行性肌病、肌强直和多器官受累。已确定两种基因不同的类型，即强直性肌营养不良1型（DM1或斯坦纳特病）和强直性肌营养不良2型（DM2）。强直性肌营养不良与睡眠功能障碍密切相关。DM1中的睡眠障碍很常见，包括睡眠呼吸紊乱（SDB）、周期性肢体运动（PLMS）、中枢性过度嗜睡和快速眼动睡眠失调（高快速眼动密度和发作性睡病样表型）。有趣的是，DM1中的嗜睡似乎更多是由于睡眠-觉醒调节的中枢功能障碍，而非睡眠呼吸紊乱。迄今为止，关于DM2中睡眠障碍的发生情况知之甚少。已描述了睡眠呼吸紊乱（阻塞性和中枢性呼吸暂停）、快速眼动睡眠无张力以及不安腿综合征。迫切需要进一步的多导睡眠图对照研究，尤其是针对DM2的研究，以阐明睡眠障碍在强直性肌营养不良中的作用。
