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)

A group of 153 probands with narcolepsy included 38 subjects (24.8%) with a familial incidence of excessive daytime sleepiness (EDS). In 15 cases (9.8%), at least one additional family member suffered from narcolepsy-cataplexy; only EDS was present in the remaining 23 cases (15.0%). One thousand eighty-two relatives were evaluated. The percentage of first degree relatives affected with narcolepsy-cataplexy was 2.28% (1.20% if only clinically confirmed cases were accounted); the adequate value for second degree relatives was 1.49%. The occurrence of EDS exceeded these values several times (4.28% in first degree relatives, 6.57% in second degree relatives). The vertical mode of transmission was found in most families. Human leukocyte antigen (HLA) typing was performed in six families with multiple-case incidence of narcolepsy. Forty-one blood samples were analyzed (12 patients with narcolepsy, 7 with only EDS, 2 with sleep apnea syndrome, and 20 healthy relatives). HLA DR2+ and DQB1*0602+ were found in only 8 out of 12 narcoleptic patients with cataplexy and in six out of seven patients with isolated attacks of sleepiness. These findings support the hypothesis that there is a common genetic basis for narcolepsy associated with cataplexy and "monosymptomatic" forms of narcolepsy and suggest the existence of non-major histocompatibility complex (MHC) susceptibility factors for narcolepsy.
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PMID:Familial aspects of narcolepsy-cataplexy in the Czech Republic. 945 68

Sleep consists of two complex states--NREM and REM sleep--and disturbances of the boundaries between the states of sleep and wakefulness may result in violence. We investigated our population for reports of violence associated with sleep. REM behavior disorder is rarely associated with injury to the sufferer or others. NREM sleep related nocturnal wandering associated with self-inflicted injuries has variable etiologies. In the elderly, it is associated with dementia. In young individuals, it may be associated with mesio-temporal or mesio-frontal foci and an indication of a complex partial seizure. It also may be related to abnormal alertness and is associated with excessive daytime sleepiness, micro-sleeps, and hypnagogic hallucinations in sleep disorders such as narcolepsy or sleep disordered breathing.
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PMID:Nocturnal wandering and violence: review of a sleep clinic population. 945 36

Hypersomnia (excessive sleepiness) accompanies many diseases. 14% of the total Austrian population regularly have problems staying awake during the day or are prone to taking spontaneous naps. Hypersomnia is a symptom of the sleep apnea syndrome, which is a risk factor for cerebrovascular disorders. Daytime sleepiness is also a characteristic symptom of narcolepsy, idiopathic hypersomnia, episodic hypersomnia, and many more neurological or psychiatric disorders; it can also be drug induced. Involvement of brain structures which are essential for the regulation of the sleep wake cycle as a result of neurological disorders can likewise lead to hypersomnia. Symptomatic treatment is necessary when treatment of the causal factors is not possible or no improvement has been achieved.
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PMID:[Sleep disorders in neurology. Hypersomnia]. 947 35

Not only physical and mental conditions but also social adaptation of a great number of persons are often disturbed by sleep disorders. For example, unexpected inattention and drowsiness due to different sleep disorders including sleep apnea syndrome, narcolepsy, nocturnal insomnia etc, during car-driving and other working situations may lead to traffic accidents and other disasters. This indicates that sleep disorders are not only important medical but also social problems. Recent progresses in the field of sleep disorders medicine have enabled to distinguish many sleep disorders with different clinical manifestations, pathophysiologies and etiologies. Two kinds of international diagnostic classification of sleep disorders are available at present: ICSD (1990) and ICD-10 (1992). Outlines of these international classifications were introduced and their outstanding points and shortcomings were discussed.
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PMID:[An introduction to sleep disorders--their concept and diagnostic classification]. 950 33

The periodic limb movements (PLM) are defined as stereotyped, periodic movements of the legs and/or upper limbs during sleep. The patient exhibits dorsifilexion of the ankle and extension of the big toe with occasional flexion of the knee and hip. PLM originally was described as "nocturnal myoclonus" by Symonds in 1953. Recently, the term "nocturnal myoclonus" has been replaced with PLM, because the movements are slower than true myoclonic movement. The appearance of PLM was reported in sleep apnea syndrome, delayed sleep phase syndrome, narcolepsy, spinal cord tumor, diabetes mellitus and uremia. The prevalence of PLM statistically increase with age. Patients with PLM show excessive daytime sleepiness or insomnia. Several reports show the difficulty recognizing periodic limb movement disorder (PLMD) without polysomnography (PSG). The diagnosis of PLMD is established only by PSG.
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PMID:[Periodic limb movement disorder]. 950 40

Disorders of excessive daytime sleepiness (EDS) constitute a major health hazard, since impaired alertness may lead to accidents and poor quality of life, and some of them are associated with increased cardiovascular morbidity and mortality. Many disorders of EDS are neurological diseases (e.g. narcolepsy and periodic limb movements in sleep, PLMS). The largest group of disorders causing EDS consists of sleep-related disturbances of breathing, where neuroregulatory mechanisms play a major role in pathophysiology. Many patients with neurodegenerative and neuromuscular diseases suffer from sleep disturbances associated with EDS. Therefore, neurologists must be acquainted with the differential diagnosis of EDS and the major categories of sleep disorders causing it. The present update focuses on major sleep disorders causing EDS, and approaches the topic from the neurologist's perspective. Rather than being an extensive review, this update includes recent data on epidemiology, pathophysiology, diagnosis and treatment of obstructive sleep apnea and related conditions (increased upper airway resistance syndrome, central sleep apnea), as well as of narcolepsy and PLMS. Also included are recent data concerning EDS in neurodegenerative (Alzheimer's disease, Parkinson's disease, multiple system atrophy) and neuromuscular disorders.
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PMID:Disorders of excessive daytime sleepiness--an update. 951 78

Sleep-wake habits and control of postural muscle tone were investigated by self-report questionnaire in 183 subjects considered to have the narcoleptic syndrome, 62 subjects with hypersomnia and 10 with obstructive sleep apnoea. Results were compared with those in a group of 188 control subjects with normal sleep wake habits. Excessive daytime sleepiness, determined by the Epworth Sleepiness Scale (ESS), was five times greater in the narcoleptic syndrome than in control subjects (score range 0-24, mean scores +/-SD 19.6+/-3.0; and 4.5+/-3.3 respectively; P<0.001). The propensity to cataplexy, as determined by a rating scale developed to estimate the likelihood of loss of postural tone in response to sudden emotional stimuli, including laughter, was 10 times greater in narcoleptic syndrome than in control subjects (postural atonia total score range 0-600; mean + SD 334+/-122 and 28+/-45, respectively; P<0.001). Narcoleptics had more disturbances of night sleep than controls with episodes of muscle jerking, sleep walking, sleep talking and sleep terrors, as well as sleep paralysis, and higher insomnia self-rating scores. Sleep latency from bedtime to sleep-onset time was shorter in narcoleptics than controls. The hypersomniac group of 62 subjects was heterogeneous. Subsequent investigation showed that 18 subjects (29%) had idiopathic hypersomnia, four (6%) 'incomplete' narcolepsy without cataplexy and 10 (16%) hypersomnia accompanying a mood disorder. The mean ESS scores in this group and in subjects with obstructive sleep apnoea were comparable to those of the narcoleptic syndrome subject group. Mean postural atonia scores were similar to those of control subjects.
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PMID:The clinical diagnosis of the narcoleptic syndrome. 961 27

Many clients have trouble battling afternoon fatigue, falling asleep, staying asleep, or having a restful night's sleep. Approximately 33% of the adult U.S. population--about 65 million people--suffer from sleep disorders. One of two people have experienced insomnia. At least 10 million people have sleep apnea, hundreds of thousands have experienced narcolepsy, and approximately 12 million suffer from restless legs syndrome or periodic limb movements during sleep. However, most people with sleep disorders remain undiagnosed and untreated.
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PMID:Sleep disorders. 964 67

The prevalence of sleep-disordered breathing (SDB) was evaluated in a male population sample of Lorraine (university staff), with a protocol including a self-completed standardized questionnaire, anthropometry (including neck, waist and hip circumferences) and non-invasive ear, nose, and throat examination. Among 357 subjects present in the institution at the moment of the survey, 334 (93.6%) accepted to participate, and 300 (84%) returned the questionnaires. The anthropometric results corresponded to the French normative values according to gender and age. We chose a value of 32 as limit of the body mass index (BMI) between weight excess and obesity; this limit was exceeded by 7.2% of the subjects. The mean age of the sample was 44.8 (SD 10.1) years; the waist-to-hip ratio was of 0.907 +/- 0.053. The ENT examination found a high prevalence of nasal septum deviations (52.6%), of soft palate (25.2%), and uvula (42%) abnormalities; 32.1% of the subjects had experienced amygdalectomy. The non-responses to the questionnaire were infrequent (less than 2%), except for the questions regarding a history of hypertension (2.6%), weight fluctuations the last 5 years (7.6%), and the number of years in school (12%). The questionnaire included, for each question, the optional answer "don't know"; this answer was chosen for the questions concerning the duration of snoring (37.1%), stopping breathing during sleep (12.7%) and the parental history of narcolepsy (18.7 and 20.7%) and sleep apnoea (33.7 and 36.4%). 5.7% of the subjects declared sleep apnoeas at least once per week: 16.1% had unrefreshing sleep; 10.6% admitted to excessive daytime sleepiness; 41.9% were habitual snorers. These results indicate a prevalence of SDB in our sample which is comparable to the figures obtained in other European studies. Further analysis of our data will indicate if, besides weight excess and its troncular distribution, cigarette smoking and respiratory symptoms, the "minor" ENT abnormalities play a role in the pathogenesis of SDB.
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PMID:[An epidemiologic study of sleep-disordered breathing in the male population of Lorraine: preliminary results]. 977 16

CLINIC AND HISTORY: Expression of hypersomnia can take on several forms: long period of nocturnal sleep, excessive diurnal somnolence or both. History taking is essential. Useful tools include standardized questionnaires and a diary of sleeping habits. Not only do they provide evidence of the hypersomnia, but also information on possible eccentric origin(s). A pathological hypothesis can then be put forward: sleep apnea syndrome, narcolepsy, idiopathic hypersomnia, or periodic movements during sleep. POLYGRAPHY: Different recording protocols have been designed to determine sleep patterns, often depending on the clinical setting. The goal is to obtain an objective confirmation of hypersomnia and demonstrate a cause. The type of recording (hour and duration of the recording, parameters monitored) depends on the information desired. Because captors themselves sometimes perturb sleep, polygraphic explorations must be adapted to each individual situation.
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PMID:[Hypersomnia. Investigational strategy for evaluating hypersomnia]. 983 40


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