Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a 39-year-old man with myotonic dystrophy. He suffered from morning headache. Respiratory function tests showed restrictive pattern and arterial gas analysis showed hypoxia and hypercapnia with respiratory acidosis (PaCO2 50.8 mmHg, PaO2 63.8mmHg, pH 7.317, SaO2 89.8%). Polysomnograph showed central apneas exclusively in light sleep (stage 1 and 2). O2 saturation fell at most to as low as 50% during the apneas. We conclude that sleep apnea should be consider in patients with myotonic dystrophy associated with morning headache.
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PMID:[A case of myotonic dystrophy with morning headache following sleep apnea syndrome]. 766 17

Pharyngeal flaps are often used to correct velopharyngeal insufficiency. They produce a permanent partial obstruction of the velopharyngeal space. Respiratory obstruction and obstructive sleep apnea have been reported following this surgery. We undertook a study to find out the incidence of sleep apnea associated with pharyngeal flap surgery. Forty-one children (aged 2 to 22 years) admitted for a pharyngeal flap underwent a polysomnographic recording prior to their surgery. One child with Steinert's disease showed some episodes of obstructive apnea, and the surgery was canceled. Forty children underwent pharyngeal flap surgery, and polysomnography with continuous arterial saturation was repeated following surgery. Postoperative polysomnograms were normal in 26 patients (65 percent) and abnormal in 14 patients (35 percent). Among the 14 abnormal patients, we found 6 with obstructive apneas, 6 with central apneas, and 2 with both central and obstructive apneas. Ten of the 14 abnormal patients were restudied in the following months. Eight children had normal recordings, while 2 had central apneas. The 4 patients who declined a follow-up recording had no clinical symptoms of respiratory difficulty when sleeping. Of the 2 children with abnormal recordings on long-term follow-up, 1 is asymptomatic, while the second has persistent snoring, nocturnal awakening, sweating, and daytime lethargy. A section of his flap has been recommended. Independent analysis of arterial oxygen saturation revealed that the percentage of time with a saturation of less than 90 percent identifies patients with clinically significant apneas. Our data show that significant sleep apneas following pharyngeal flaps may not be as frequent or permanent as previously reported.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Sleep apnea following a pharyngeal flap: a feared complication. 813 86

Sudden changes in respiratory patterns observed during polysomnographic studies may suggest a positional form of SAHS (sleep apnea-hypopnea syndrome). We report the case of a 37-year-old patient with Steinert's disease with this form of SAHS. Breathing during sleep could be regularized by a simple positional control.
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PMID:Effects of body position on sleep related disordered breathing in a patient with Steinert's disease. 814 57

Daytime sleepiness is common in myotonic dystrophy and might be attributed to disturbed nocturnal breathing. Seventeen out of 22 patients complained of excessive daytime sleepiness, resembling "idiopathic hypersomnolence". Sleep apnoea might have contributed to daytime sleepiness in only three of 17 patients. Treatment with the central stimulant methylphenidate produced sustained benefit in seven out of 11 patients tested. Daytime sleepiness in myotonic dystrophy is usually caused by dysfunction of central sleep regulation and not by disturbed nocturnal breathing.
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PMID:Daytime sleep in myotonic dystrophy is not caused by sleep apnoea. 820 39

A 52-year-old man had been asymptomatic except for nasal speech since his third decade of life. A chest roentgenogram obtained during a health screening one year before admission revealed elevation of the right hemidiaphragm and infiltrates in the right lower lung field. Because the pulmonary shadows had gradually increased, he was admitted to the hospital, for further examination. Based on physiological findings and on the results of electromyography, myotonic dystrophy was diagnosed. The chest roentgenographic abnormalities were regarded as resulting from complications of this disease. Arterial blood gas analysis showed hypercapnic hypoxia and a spirogram showed that the vital capacity and maximum voluntary ventilation were about half of their respective predicted values. The hypercapnic ventilatory response was also abnormally low. An overnight study of oxygen saturation showed episodes of marked desaturation, and polysomnography revealed central sleep apnea. Inhalation of capsaicin showed an abnormally high cough threshold. Patients with undiagnosed myotonic dystrophy rarely present with chest roentgenographic abnormalities.
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PMID:[A patient with myotonic dystrophy who presented with chest roentgenographic abnormalities and alveolar hypoventilation]. 893 45

We studied 134 patients with Steinert's myotonic dystrophy (MD) in order to determine the prevalence of chronic hypercapnia, the level of muscle weakness and forced expiratory volume at which hypercapnic respiratory failure is likely to occur, and how clinical assessment might help predict hypercapnic respiratory failure. Subjects were divided into five classes with a muscular disability rating scale (MDRS): 0 = no clinical impairment (n = 9), I = minimal signs of impairment (n = 11), II = distal weakness (n = 41), III = moderate proximal weakness (n = 62), and IV = nonambulatory (n = 11). The prevalence of hypercapnia (PaCO2 > or = 43 mm Hg) was found to be 0%, 27%, 29%, 45% and 55% for MDRS 0 to 4, respectively (p = 0.03). A multiple regression analysis limited to clinical data showed that daytime hypersomnolence was a significant cofactor with the MDRS (p = 0.01) in predicting PaCO2 (r = 0.40). Among respiratory parameters, FVC, respiratory muscle strength (RMS), and maximal inspiratory pressure against occluded airways (PImax) were found to be predictors of nearly equal strength, explaining 16%, 15%, and 14% of the PaCO2 variance, respectively. In multiple regression analysis, sex, daytime sleepiness, and the expected/observed FVC ratio for a given RMS were found to be significant cofactors with PImax in predicting PaCO2 (r = 0.51). It is concluded that respiratory insufficiency should be suspected in MD patients with proximal weakness or daytime sleepiness. The likelihood of hypercapnia also increases with volume restriction and respiratory muscle weakness. Our study suggests that the combination of inspiratory muscle weakness and loading plays a predominant role in the pathogenesis of chronic alveolar hypoventilation in MD patients. The occurrence of daytime hypersomnolence suggests that other factors, such as low central ventilatory drive or sleep apnea, might play an additional role.
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PMID:Relationship between chronic hypercapnia and inspiratory-muscle weakness in myotonic dystrophy. 923 Jul 37

Patients with myotonic dystrophy frequently suffer from excess daytime sleepiness, which can be a significant cause of disability. Previous studies have indicated that this excess daytime sleepiness is only occasionally due to obstructive sleep apnoea and may be principally of central nervous system origin. Modafinil has been successfully used to treat narcolepsy, a central disorder causing excess daytime sleepiness. We have investigated the use of this drug in myotonic dystrophy patients with excess daytime sleepiness. Patients were recruited from a clinic population on the basis of screening with the Epworth Sleepiness Scale. Patients scoring 10 and above were invited to participate in a randomized double-blind crossover trial of modafinil versus placebo, with four weeks in each arm of the study separated by a 2-week washout period. Patients were assessed by polysomnography at baseline. The primary outcome measures were change in both the Epworth Sleepiness Scale and a modified Maintenance of Wakefulness Test, which were measured at the start of each arm of the trial and in week 3 of each intervention period. In agreement with previous smaller studies, sleepiness is not correlated with CTG expansion size. Treatment with modafinil showed a non-significant reduction in median Epworth Sleepiness Scale. However, the median Maintenance of Wakefulness Test score was prolonged by treatment (31.7-40 min, P=0.006). There were no significant adverse cardiac effects of the drug in this group of patients (resting 12 lead and 24 h ECG monitoring). Selected patients with myotonic dystrophy and excess daytime sleepiness may benefit from modafinil. In this patient group the Epworth Sleepiness Scale may not be the most reliable measure of sleepiness. Despite the potential for cardiac disease in these patients, the drug was well tolerated with no adverse effects.
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PMID:Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. 1279 91

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. All participants were awake during the measurements. We found no reduction in central airway calibre in the patients with the adult form of MD, as compared to the normal controls. These data suggest that MD may be associated with peripheral airway obstruction related to alterations in the elastic properties of the lung.
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PMID:Upper airway calibre and impedance in patients with Steinert's myotonic dystrophy. 1552 7

Patients with myotonic dystrophy (DM1) rarely complain of dyspnea despite of severe hypoxemia. We studied the perception of dyspnea caused by breath-holding in 9 DM1 patients and 8 healthy control subjects. The patients, as well as the control subjects, complained of dyspnea and showed decrease in SpO2. In none of the patients but one, however, the bottom SpO2 became lower than the minimal SpO2 recorded in 24-hour monitoring. DM1 patients were able to realize hypoxia caused by apnea, although they had not realized hypoxia that already existed. Consequently, the breath-holding test does not uncover a blunted perception of dyspnea in DM1; an afferent system contributable to air hunger sensation in breath-holding is preserved in DM1. Breath-holding test may be useful for a DM1 patient to recognize the significance of sleep apnea.
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PMID:[Perception of dyspnea due to breath-holding in myotonic dystrophy]. 1578 10

Slowness, fatigue, and learning difficulties are common in young patients with myotonic dystrophy type 1. These features may indicate poor sleep quality. The aim of this study was to search for sleep disorders in this population. This prospective study used questionnaires, genetic testing, night-time polysomnography and multiple sleep latency tests to evaluate objective daytime sleepiness. Twenty-one patients were included. Mean age was 15.0+/-3.0. Age of onset of myotonic disorders was after birth and before 10 years old. Age of diagnosis was 12.0+/-2.9. Fatigue was reported by 76% of patients, while somnolence was present in 52%. Sleep was disturbed by numerous microarousals (mean 16.6+/-7.3/h of sleep) caused by abnormal respiratory events (6/21 patients) and/or periodic limb movements (8/21 patients). In young patients with DM1, complaints of fatigue and/or somnolence should lead to a polysomnography to look for sleep apnea syndrome and/or periodic limb movement, which were present in two-thirds of our population.
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PMID:Sleep disorders in childhood-onset myotonic dystrophy type 1. 1693 65


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