Background And Purpose: There is a paucity of data available regarding the occurrence of sleep disorders in myotonic dystrophy type 2 (DM2). In this study the sleep-wake cycle and daytime sleepiness were investigated in DM2 patients and compared with results from healthy subjects and myotonic dystrophy type 1 (DM1) patients.
Methods: Twelve DM2 outpatients, 12 age- and sex-matched healthy controls and 18 DM1 patients were recruited. Subjective quality of sleep was assessed by means of the Pittsburgh Sleep Quality Index (PSQI). Both the Epworth Sleepiness Scale and the Daytime Sleepiness Scale were performed in order to evaluate excessive daytime sleepiness (EDS). All participants underwent polysomnographic monitoring over 48 h as well as the Multiple Sleep Latency Test.
Results: Sleep efficiency was < 90% in 12/12 DM2 patients, and significantly reduced when compared with controls or with DM1. Decreased sleep efficiency was associated with sleep-disordered breathing in seven out of 12 DM2 patients and/or periodic limbs movements of sleep (PLMS) in three out of eight patients. Six DM2 patients showed REM sleep without atonia, whereas none of the controls or DM1 patients showed REM sleep dysregulation. The global PSQI score was higher in DM2 patients than in controls and DM1 patients.
Conclusions: Sleep quality in DM2 patients is poorer than in DM1 patients and controls. Sleep apnea is the most common sleep disorder in DM2 patients. Obstructive sleep apnea and sleep fragmentation may represent the main cause of EDS, whereas PLMS is a frequent finding in DM1.
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http://dx.doi.org/10.1111/ene.12226 | DOI Listing |
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus.
Objective: To analyze the results of nocturnal breathing parameters during sleep based on nocturnal pulse oximetry and to study of characteristics of external respiration in genetically confirmed patients with dystrophic myotonia (DM).
Material And Methods: The subjects of the study were patients with genetically confirmed DM types 1 and 2 who were hospitalized in the neurological departments of the Republican Scientific and Practical Center for Neurology and Neurosurgery. The clinical picture of the disease, comorbidities, sleep questionnaires, laboratory tests, overnight pulse oximetry and spirometry were performed and analyzed.
Genetics
December 2024
Institute of Biotechnology, HiLIFE, University of Helsinki, Helsinki 00790, Finland.
Expansion of nucleotide repeat sequences is associated with more than 40 human neuromuscular disorders. The different pathogenic mechanisms associated with the expression of nucleotide repeats are not well understood. We use a Caenorhabditis elegans model that expresses expanded CUG repeats only in cells of the body wall muscle and recapitulate muscle dysfunction and impaired organismal motility to identify the basis by which expression of RNA repeats is toxic to muscle function.
View Article and Find Full Text PDFAs adaptors, catalysts, guides, messengers, scaffolds and structural components, RNAs perform an impressive array of cellular regulatory functions often by recruiting RNA-binding proteins (RBPs) to form ribonucleoprotein complexes (RNPs). While this RNA-RBP interaction network allows precise RNP assembly and the subsequent structural dynamics required for normal functions, RNA motif mutations may trigger the formation of aberrant RNP structures that lead to cell dysfunction and disease. Here, we provide our perspective on one type of RNA motif mutation, RNA gain-of-function mutations associated with the abnormal expansion of short tandem repeats (STRs) that underlie multiple developmental and degenerative diseases.
View Article and Find Full Text PDFBioessays
December 2024
CHU Sainte-Justine Research Center, Montreal, Quebec, Canada.
Myotonic dystrophy type 1 (DM1) is considered a progeroid disease (i.e., causing premature aging).
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