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obstructive sleep apnea myotonic dystrophy

Eleonora Tobaldini, Giorgio Colombo, Monica Solbiati, Chiara Cogliati, Lucia Morandi, Alessandro Pincherle, Nicola Montano
OBJECTIVE: Myotonic dystrophy type 1 (DM1) is a hereditary myopathy characterized by an autosomal dominant inheritance with important cardiovascular and autonomic deregulation. DM1 patients have a high prevalence of obstructive sleep apnea (OSA), but the effects of this comorbidity on cardiovascular autonomic control (CAC) are unknown. The present study aimed to investigate CAC during sleep-wake cycle in DM1 patients, taking into account the effects of OSA comorbidity. METHOD: Twenty-three patients with a diagnosis of DM1, and a control group, underwent a complete polysomnographic study (PSG)...
November 2017: Sleep Medicine
Nicholas E Johnson, Diana Abbott, Lisa A Cannon-Albright
INTRODUCTION: A population-level relative risk assessment for comorbidities associated with myotonic dystrophy has not been performed. METHODS: In this study we utilized the Utah Population Database to identify patients with myotonic dystrophy in Utah according to ICD-9 coding. Comorbidity cases listed in the medical record were compared with those of the Utah population. RESULTS: Individuals with myotonic dystrophy were found to possess an increased risk of central and obstructive sleep apnea, hypothyroidism, and intellectual disability...
October 2015: Muscle & Nerve
L Leonardis, R Blagus, L Dolenc Groselj
OBJECTIVES: In patients who exhibit myotonic dystrophy type 1 (DM1), sleep disorders and breathing impairments are common; however, in those with DM type 2 (DM2), limited studies on polysomnography (PSG) and none on phrenic compound motor action potential (CMAP) have been performed, which is the aim of this study. MATERIALS AND METHODS: Sixteen patients with DM2 were questioned about respiratory symptoms. They underwent PSG with morning arterial gas analyses (AGA)...
July 2015: Acta Neurologica Scandinavica
Maria Laura Ester Bianchi, Anna Losurdo, Chiara Di Blasi, Massimo Santoro, Marcella Masciullo, Giulia Conte, Venanzio Valenza, Antonello Damiani, Giacomo Della Marca, Gabriella Silvestri
PURPOSE: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are the most common muscular dystrophies in adulthood. A high prevalence of excessive daytime sleepiness (EDS) and sleep disordered breathing was documented in DM1; however, there are limited data available regarding DM2. Goals of the study were: (1) to evaluate the prevalence of sleep apnea in a large cohort of patients (71 DM1 and 14 DM2) and (2) to analyze correlations among such disorders and clinical features of myotonic dystrophies...
September 2014: Sleep & Breathing, Schlaf & Atmung
A Romigi, M Albanese, F Placidi, F Izzi, C Liguori, M G Marciani, N B Mercuri, C Terracciano, G Vitrani, A Petrucci, B Di Gioia, R Massa
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)...
June 2014: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Erek M Lam, Paul W Shepard, Erik K St Louis, Lucas G Dueffert, Nancy Slocumb, Stuart J McCarter, Michael H Silber, Bradley F Boeve, Eric J Olson, Virend K Somers, Margherita Milone
OBJECTIVES: Although sleep disturbances are common in myotonic dystrophy type 1 (DM1), sleep disturbances in myotonic dystrophy type 2 (DM2) have not been well-characterized. We aimed to determine the frequency of sleep disturbances in DM2. METHODS: We conducted a case-control study of 54 genetically confirmed DM2 subjects and 104 medical controls without DM1 or DM2, and surveyed common sleep disturbances, including symptoms of probable restless legs syndrome (RLS), excessive daytime sleepiness (EDS), sleep quality, fatigue, obstructive sleep apnea (OSA), probable REM sleep behavior disorder (pRBD), and pain...
July 9, 2013: Neurology
Regina Monteiro, João Bento, Miguel R Gonçalves, Tiago Pinto, João Carlos Winck
BACKGROUND: Dystrophia myotonica (DM) is the most frequent adult-onset muscular dystrophy. Type 1 is caused by the cytosine-thymine-guanine (CTG) repeat expansion in the DM protein kinase gene. Respiratory muscle weakness and altered central ventilatory control lead to hypercapnia and lung volume restriction. PURPOSE: This study aims to review the respiratory involvement in DM patients and study its relation with genetics. METHODS: Retrospective study of patients with DM referred for respiratory assessment was made...
September 2013: Sleep & Breathing, Schlaf & Atmung
Paul Shepard, Erek M Lam, Erik K St Louis, Jacob Dominik
Sleep disorders in myotonic dystrophy type 1 (DM1) are common and include sleep-disordered breathing, hypersomnia, and fatigue. Little is known regarding the occurrence of sleep disturbance in myotonic dystrophy type 2 (DM2). We hypothesized that DM2 patients may frequently harbor sleep disorders. We reviewed medical records of all genetically confirmed cases of DM2 seen at our sleep center between 1997 and 2010 for demographic, laboratory, overnight oximetry, and polysomnography (PSG) data. Eight patients (5 women, 3 men) with DM2 were identified...
2012: European Neurology
Yves A Dauvilliers, Luc Laberge
Myotonic dystrophy type 1 (DM1), or Steinert's disease, is the most common adult-onset form of muscular dystrophy. DM1 also constitutes the neuromuscular condition with the most significant sleep disorders including excessive daytime sleepiness (EDS), central and obstructive sleep apneas, restless legs syndrome (RLS), periodic leg movements in wake (PLMW) and periodic leg movements in sleep (PLMS) as well as nocturnal and diurnal rapid eye movement (REM) sleep dysregulation. EDS is the most frequent non-muscular complaint in DM1, being present in about 70-80% of patients...
December 2012: Sleep Medicine Reviews
Alessandro Pincherle, Vincenzo Patruno, Paola Raimondi, Sabrina Moretti, Ambra Dominese, Filippo Martinelli-Boneschi, Maria Barbara Pasanisi, Eleonora Canioni, Franco Salerno, Francesco Deleo, Roberto Spreafico, Renato Mantegazza, Flavio Villani, Lucia Morandi
The aim of this study was to estimate the prevalence and nature of sleep breathing disorders in Myotonic dystrophy type 1 (DM1). We wanted to determine whether there is a relationship between sleep breathing disorders and clinical parameters such as pulmonary function, degree of neuromuscular impairment, daytime sleepiness, and fatigue. This will help assess the prevalence of DM1 patients requiring nocturnal ventilatory treatments. We studied a random sample of 40 unrelated patients and found that 22/40 patients had obstructive sleep apnoea...
March 2012: Neuromuscular Disorders: NMD
Marta Banach, Maria Rakowicz, Jakub Antczak, Rafał Rola, Grzegorz Witkowski, Elzbieta Waliniowska
Myotonic dystrophy (MD) is a genetically determined disease with autosomal dominant mode of inheritance. Relatively recently, MD has been divided into two sub-types (MD1 and MD2). Clinical symptoms of MD1 result from the expansion of a (CTG)n trinucleotide of the gene coding for serine/threonine protein kinase and clinical symptoms in MD2 are associated with the expansion of (CCTG)n in I intron of the zinc-finger protein 9 (ZNF9). Myotonic dystrophies MD1 and MD2 are multisystem diseases with numerous symptoms and high interfamily variability, resulting from the fact that different organs are affected...
2009: Przegla̧d Lekarski
Ioannis Zalonis, Anastasios Bonakis, Fotini Christidi, Emmanouil Vagiakis, Sokratis G Papageorgiou, Nikolaos Kalfakis, Panagiota Manta, Dimitrios Vassilopoulos
Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult onset myotonic dystrophy type 1 (MD1). In order to investigate the MD1 cognitive profile and its relationship with sleep disruption, 23 patients with genetically proved MD1 (mild-moderate in severity) underwent neuropsychological (nps) and polysomnography assessment. Patients scored lower than controls on almost all nps tests but cognitive impairments were mostly observed in executive functions (z-score = -2.14), with complex attention (z-score = -1...
June 2010: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
Y Armendáriz-Cuevas, J López-Pisón, M T Calvo-Martín, V Rebage Moisés, J L Peña-Segura
INTRODUCTION: Myotonic dystrophy is a highly variable autosomic dominant inherited multisystemic disease. We review our 18 years experience with patients suffering from this disease. RESULTS: Eleven patients were identified following a molecular genetic study: 2 patients died, 5 are still under control, 2 are being controlled in another Centre, and 3 dropped out. Three of them were relatives. Seven newborns started with hypotonic symptoms in the neonatal period, with hypotonic symptoms, of which 4 had foetal suffering...
February 2010: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Esen Kiyan, Gulfer Okumus, Caglar Cuhadaroglu, Feza Deymeer
PURPOSE: Sleep apnea is common in myotonic dystrophy (MD) and may cause respiratory failure. Most of the sleep studies have been performed in patients with excessive daytime sleepiness (EDS), which is a characteristic and strong predictor of sleep apnea. Therefore, we investigated the prevalence of sleep apnea in adult MD patients who have no EDS. MATERIALS AND METHODS: Epworth Sleepiness Scale was used to exclude EDS and a score over 10 was accepted as an indicator of EDS...
February 2010: Sleep & Breathing, Schlaf & Atmung
Redouane Fodil, Frédéric Lofaso, Djilalli Annane, Line Falaise, Michèle Lejaille, Jean Claude Raphaël, Daniel Isabey, Bruno Louis
Myotonic dystrophy (MD) can be responsible for increased inspiratory muscle loading, the origin of which is debated, with some authors incriminating distal lesions and others central abnormalities. Using a recent non-invasive method based on single transient pressure-wave reflection analysis, we measured central airway calibre from the mouth to the carina and respiratory impedance in a group of adults with MD, a group of patients with sleep apnoea syndrome (SAS) but no neuromuscular disease, and a group of normal controls...
November 30, 2004: Respiratory Physiology & Neurobiology
John W Gibbs, Emma Ciafaloni, Rodney A Radtke
STUDY OBJECTIVES: Sleep studies at Duke University Medical Center were retrospectively reviewed to investigate causes of excessive daytime sleepiness (EDS) in our myotonic dystrophy1 (DM1) patient population, identified by an abnormal CTG expansion on chromosome 19. Excessive daytime sleepiness, an accentuated desire for sleep or the occurrence of sleep episodes that interfere with normal wakefulness, is common in patients with DM1. Sleep abnormalities, such as central and obstructive sleep apnea, have been extensively reported; however, many DM1 patients suffer from EDS in the absence of any identified respiratory dysrhythmia...
September 15, 2002: Sleep
A Avanzini, R M Crossignani, A Colombini
A case of neonatal Myotonic Dystrophy (MD) is presented. A 35 week old 3570 g baby was born to a mother affected by MD and pregnancy-induced unstable diabetes. Soon after birth, he developed apnea, severe hypoglycemia, hypocalcemia, hypotonia and mild respiratory distress. His clinical course improved during the following days, but persistent episodes of desaturation and/or cyanosis did not subside; hypotonia was mild. A polysomnographic recording showed mixed central and obstructive apnea. DNA testing showed trinucleotide repeat expansion mutations diagnostic of MD...
June 2001: Minerva Pediatrica
M S Damian, A Gerlach, F Schmidt, E Lehmann, H Reichmann
The authors conducted an open-label trial of modafinil for excessive daytime sleepiness in myotonic dystrophy. Eleven patients were evaluated: two were not treated because of obstructive sleep apnea, and nine received 200 to 400 mg modafinil/day for an average of 16.4 weeks. There were no major side effects. Average sleep latency as measured by the Multiple Sleep Latency Test increased from 7.3 to 22.7 minutes ( p = 0.00013), and average Epworth Sleepiness Scale score decreased from 13.25 to 7.75 (p = 0.01028)...
March 27, 2001: Neurology
G M Barthlen
Patients with neuromuscular disease may suffer from nocturnal respiratory failure despite normal daytime respiratory function. The physiological reduction in muscle tone during sleep may be life-threatening in a patient with impaired muscle strength. Nocturnal respiratory failure may occur in patients with the postpolio syndrome, amyotrophic lateral sclerosis, myasthenia gravis, myotonic dystrophy, and muscular dystrophy. Diagnosis of obstructive, central and mixed apneas, hypopneas, and hypoventilation is best made using polysomnography...
1997: Respiration; International Review of Thoracic Diseases
A J Finnimore, R V Jackson, A Morton, E Lynch
BACKGROUND: Tiredness and daytime respiratory failure occur frequently in myotonic dystrophy. Sleep hypoxaemia was studied in 12 patients with myotonic dystrophy and correlations were sought with their daytime lung and respiratory muscle function. METHODS: All patients underwent overnight sleep studies, clinical assessment, measurement of flow-volume loops and carbon monoxide transfer factor, arterial blood gas analysis, and physiological assessment of both thoracic muscle function and upper airways obstruction...
January 1994: Thorax
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