Comparative Sleep Disturbances in Myotonic Dystrophy Types 1 and 2

Abstract

Purpose of Review To update current knowledge regarding sleep disturbances and myotonic dystrophies so as to better understand if sleep symptoms may help in the early recognition of the two genetic subtypes: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). Recent Findings Sleep-disordered breathing (SDB), restless legs syndrome, periodic limb movements in sleep, hypersomnia, and REM sleep dysregulation are frequently described in DM1 patients. SDB does not always explain hypersomnia, but a central dysregulation of sleep-wake modulation is reported mainly in DM1. Sleep apnea, restless legs syndrome, and REM sleep without atonia have been reported in single case reports and small case series of DM2. Summary DM2 is less prevalent and more recently described than DM1, with a milder phenotype than DM1. The most frequent sleep disorders in DM1 are hypersomnia, SDB, periodic limb movements, and a narcoleptic-like phenotype, whereas restless legs syndrome, SDB, and REM sleep without atonia seem to be the most frequent sleep disorders in DM2. Comparative sleep studies are strongly required to delineate the sleep phenotype of myotonic dystrophies.

Post-polio Syndrome: More Than Just a Lower Motor Neuron Disease

“…The simultaneous onset of RLS and PPS symptoms (91) and the positive response to pramipexole in an uncontrolled trial by Kumru et al (93) have been interpreted as a pathophysiological link between RLS and PPS (98). The putative link between RLS and neuroimmunological alterations (100, 101) may also suggest shared pathophysiological processes between PPS and RLS (99). Furthermore, a higher incidence of cauda equina syndrome (102) and renal impairment (103) has also been reported in PPS but the association between these syndromes remains to be elucidated.…”

Sleep in Huntington’s disease: a systematic review and meta-analysis of polysomongraphic findings

“…myotonic dystrophy (DM) [27] and Friedreich's ataxia (FA) [28]), and whether sleep disturbances are also related to the trinucleotide repeat length in these diseases. Previous studies found hypersomnia, increased periodic limb movements in sleep (PLMS), sleep apnea, SWS, and REM sleep duration, and decreased N2 in DM1 patients [29,30]; whereas decreased TST, SE, percentage of SWS and REM sleep, and increased WASO were found in DM2 patients [31]. To our knowledge, how PSG changes in FA patients compare with controls has not been established; however, the presence of sleep apnea correlates with the duration and clinical severity of FA [32].…”

A dystrophia myotonica 1-es típusának sokszervi megjelenése

“…Alvászavarok gyakran fordulnak elő szinte valamennyi neuromuscularis betegség esetén, ezért jelentős szerepet játszanak a betegek életminőségének romlásában. A leggyakoribb alvászavarok DM1-ben: alvásfüggő légzészavar (SDB), hypersomnia és nyugtalanláb-szindróma [11]. Alvásvizsgálatok alapján az obstruktív alvási apnoe (OSAS) előfordulása 69% volt DM1-és 42% DM2-betegek között; az összes beteg 28%-ánál volt szükség nem invazív lélegeztetés (NIV) bevezetésére [12].…”