Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2

Romigi, Andrea; Silvestri, Gabriella; Louis, Erik K. St.; Placidi, Fabio; Albanese, Maria; Izzi, Francesca; Liguori, Claudio; Mercuri, Nicola Biagio; Marciani, M. G.; Massa, Roberto; Bianchi, Marco; Losurdo, Anna; Marca, Giacomo Della; Lam, Erek M.; Shepard, Paul W.

doi:10.1212/01.wnl.0000453225.02417.cf

Cited by 4 publications

(6 citation statements)

References 8 publications

(20 reference statements)

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“…Several sleep disturbances like excessive day time sleepiness, sleep apneas, periodic leg movements during sleep, rapid eye movement sleep dysregulation, fatigue and hypersomnia were reported [26]. Myotonic dystrophy type 2 patients present with various sleep problems like sleep disordered breathing, restless legs syndrome, fatigue, insomnia and day time sleepiness [27, 28]. Studies on SSDs are lacking in these disorders.…”

Section: Discussionmentioning

confidence: 99%

Assessment of Sleep Spindle Density among Genetically Positive Spinocerebellar Ataxias Types 1, 2, and 3 Patients

Seshagiri

Botta²,

Sasidharan³

et al. 2018

Ann Neurosci

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Objective: The effect of thalamic degeneration in patients with spinocerebellar ataxias (SCA) and sleep spindle (SS) abnormalities has not been studied so far, although there is a strong association between these disorders. This study was done to evaluate and compare the SS densities (SSDs) of genetically proven autosomal dominant SCA1, SCA2 and SCA3 patients with controls. Methods: Prospectively and genetically confirmed cases of SCA and controls were recruited. Patients were assessed clinically, were evaluated with sleep questionnaires and an overnight polysomnography was performed. SSDs were analyzed using neuroloop gain plugin of Polyman version 1.15 software. Results: Eighteen patients of SCA1 (n = 6), SCA2 (n = 5), SCA3 (n = 7) and 6 controls were recruited in our study. The mean age of SCA1 patients was 39.2 ± 5.4, of SCA2 patients was 30.8 ± 9.5 and of SCA3 patients was 35.4 ± 6.4 years. The mean duration of illness in SCA1 was 4.7 ± 1.7 years, in SCA2 it was 4.3 ± 4.4 years and in SCA3 it was 5 ± 2.3 years. The median SSD values (percentage loop gain) during stage 2 of non-rapid eye movement sleep were 16.9% in SCA1, 0% in SCA2, 1.2% in SCA3 and 59.5% in controls. There was a significant difference in SSD values in SCA2 (p = 0.04), SCA3 (p = 0.02) patients and controls. Conclusion: SSDs were significantly decreased in patients with SCA, which is a novel finding. This is likely due to the “thalamic switch” disruption, observed as reduced SSDs in SCA2 and SCA3. Sleep spindle deficits could act as one of the biomarkers of ongoing neurodegeneration in the thalamic circuitry of SCA patients.

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Section: Discussionmentioning

confidence: 99%

Assessment of Sleep Spindle Density among Genetically Positive Spinocerebellar Ataxias Types 1, 2, and 3 Patients

Seshagiri

Botta²,

Sasidharan³

et al. 2018

Ann Neurosci

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“…Daytime sleepiness and impaired sleep are common in patients with adult DM1 [9,12,[14][15][16] representing the 4th most prevalent symptomatic theme among patients with DM1 [17]. Impaired sleep disorders are clearly present in both adults and children and can be present as sleep-related breathing events, periodic limb movements or REM-sleep disturbances [9][10][11].…”

Section: (Mt Rogers B Gallais B Schoser P Wijkstra D Duboc)mentioning

confidence: 99%

“…In a series of 21 children affected by childhood-onset myotonic dystrophy [21] sleep disturbances were reported in 66% of children with DM1, periodic limb movements and sleep apnea syndromes in 38% and 29% respectively and were more frequently associated with fatigue. Symptoms of daytime sleepiness and fatigue are often overlapping [16,19,22] and progress over time, negatively impacting cognition [23]. Fatigue is present in most patients with DM1 [17,24] and is the second most common symptomatic theme in DM1 while having the greatest impact on patients' lives [17,25].…”

Section: (Mt Rogers B Gallais B Schoser P Wijkstra D Duboc)mentioning

confidence: 99%

207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: Management and implications for research, 27–29 June 2014, Naarden, The Netherlands

Sansone

Gagnon

2015

Neuromuscular Disorders

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“…They highlighted that RLS was the most relevant sleep disorder in DM2, more so than obstructive sleep apnea, which would be represented in DM2 similarly as in healthy controls. However, this study was biased by the lack of polysomnographic data and a probable underrating of SDB in DM2 patients [21,22,84]. The lack of studies comparing RLS prevalence in DM1 and DM2 does not allow one to conclude that there is higher RLS prevalence in DM2; also, two polysomnographycontrolled studies did not report RLS in small samples of DM1 and DM2 patients [18, 20•].…”

Section: Rls and Plms In Dm1 And Dm2mentioning

confidence: 99%

“…Data regarding sleep disorders in patients with DM2 are scarce, mainly because of its recent genetic definition and its low prevalence in some countries [17]. SDB, sleepiness [8, 18, 19, 20•], restless legs syndrome (RLS) [21,22], and REM sleep disorders [9,18] were further described also in DM2, although few polysomnographic studies are available. DM1 and DM2 are characterized by a significant clinical variability of muscular and nonmuscular manifestations, although several symptoms may be comparable [23].…”

Section: Introductionmentioning

confidence: 99%

Comparative Sleep Disturbances in Myotonic Dystrophy Types 1 and 2

Romigi

Franco²,

Placidi

et al. 2018

Curr Neurol Neurosci Rep

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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.

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Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2

Cited by 4 publications

References 8 publications

Assessment of Sleep Spindle Density among Genetically Positive Spinocerebellar Ataxias Types 1, 2, and 3 Patients

Assessment of Sleep Spindle Density among Genetically Positive Spinocerebellar Ataxias Types 1, 2, and 3 Patients

207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: Management and implications for research, 27–29 June 2014, Naarden, The Netherlands

Comparative Sleep Disturbances in Myotonic Dystrophy Types 1 and 2

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