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)

One male and two female cases in a family of Machado-Joseph disease were reported. Two cases showed typical symptoms that are characterized by bulging eyes, ophthalmoplegia, dystonia, ataxia, spasticity of extremities and amyotrophy, and were consistent with Type II (Rosenberg et al). But another one lacked diversity of the symptoms, showing mainly progressive cerebellar ataxia for over 10 years. We pointed out the existence of a new type of MJD case exhibiting only progressive cerebellar ataxia over a long period. A female patient had dyspnea and insomnia after 20 years in her clinical course, and central sleep apnea was revealed by respiratory monitor. But, the apnea and irregular respiration appeared in both awake and sleep stages. We described the importance of attention to the apnea as a new complication of Machado-Joseph disease.
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PMID:[A family of Machado-Joseph disease with a patient having frequent apnea in all day]. 191 27

Transient recurrent confusional and stuporous states of nonepileptic origin are clearly less frequent than epileptic ones. They are relatively common in diseases of disturbed vigilance, like narcolepsy, idiopathic hypersomnolence, and sleep apnea. These patients often suffer from attacks of hypovigilance, characterized by altered awareness, automatic behaviour and partial or complete amnesia for the attack. Because of the memory 'black outs' and the frequently associated hypnagogic hallucinations, the patients behave inappropriately and often appear confused. Confusional states also typically arise during basilar artery migraine attacks. This special form of complicated migraine predominantly affects young females and is characterized by symptoms and signs of brain stem dysfunction such as vertigo, ataxia, paresthesia, limb weakness, dysarthria; in 75% of the cases, disorders of consciousness dominate. Transient ischemic attacks are sometimes recurrent and, when involving the cranial basilar territory, may result in confusional states without significant motor dysfunction. Attacks of transient global amnesia are possibly also ischemic in nature and are assumed to arise from transient bilateral limbic failure. Affecting only memory functions, they are strictly spoken not confusional, but must nevertheless be taken into consideration when proper observation during the attack was not possible.
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PMID:[Non-epileptic impaired consciousness in neurologic diseases]. 267 60

A rare case with mitochondrial encephalomyopathy, in association with cerebellar ataxia, peripheral neuropathy, mental retardation and alveolar hypoventilation syndrome with sleep apnea, as demonstrated by polysomnography, was encountered. This combination has not been described previously. From a prognostic point of view, alveolar hypoventilation syndrome with sleep apnea is an important clinical feature is this disease entity. Neither ataxia nor the abnormality of pyruvate metabolism was alleviated after 6 months of therapy with coenzyme Q10.
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PMID:Mitochondrial encephalomyopathy with sleep apnea. 337 83

The BiPAP-System is a useful ventilatory support for patients with severe sleep apnea and need for high inspiratory pressure. Using the BiPAP as a full ventilatory support is new due to the recent addition of a timed control modus and individual control of inspiratory time. We used the new BiPAP ST-System in one young men with Duchenne-disease, one man with heredo ataxia (Friedreich), one women with spinal muscular atrophy, one man with central sleep apnea due to brainstem infarction as well as two women and one men with severe kyphoscoliosis. All patients had a significant hypoventilation and hypoxemia at night, which was documented by polysomnography. Mechanical ventilation at night with nasal BiPAP increased the baseline oxygen saturation (SaO2) by an average of 11.9% in all seven patients. The frequency of desaturations below 90% diminished by an average of 81%. The lowest SaO2 measured increased by 28% in all seven patients combined. Rhinitis due to the dryness of the inspired air were noticed in only two patients. Two other patients needed adaptation to the customized mask. The nasal BiPAP-System using the T-mode is a useful device to support ventilation at night and thus it could replace ventilatory support by the IPPV-mode in many patients.
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PMID:[Nasal BiPAP (bilevel positive airway pressure) respiration with controlled respiratory mode in neuromuscular diseases and severe kyphoscoliosis]. 761 4

Acute autonomic and sensory neuropathy (AASN) is a rare neuropathy characterized by acute autonomic dysfunction and objective sensory disturbances. A 26-year-old pregnant woman with severe autonomic and sensory dysfunction is reported. This patient suddenly developed marked nausea and vomitting in about 2 days after having a sore throat. She then developed signs of autonomic dysfunction including dilated non-reactive pupils, dryness of the eyes and oral mucous membranes, generalized anhidrosis, paralytic ileus, orthostatic hypotension, and continuous tachycardia. She also had severe generalized sensory impairments of all modalities, and all deep tendon reflexes were absent. Sensation was almost totally lost for all modalities below the neck. There was marked pseudoathetosis and sensory ataxia in all extremities. Motor examination was normal. She had inability to urinate. At this time she was 38 weeks pregnant, and when she showed signs of fetal distress, a Caesarean section was performed. Albumino-cytological dissociation was seen in the CSF. Serum noradrenaline was reduced, no sensory nerve action potentials could be elicited, and reduced coefficient of variation of the R-R interval on electrocardiography was observed. Plasma exchange was performed every other day for 3 days for about 3 weeks after the onset of the illness, but no favorable effects. Seven months after the onset, her autonomic dysfunction slightly improved, but there was no recovery from the sensory disturbances. Many symptoms and signs that characterize AASN occurred in this patient, and each was severe. The patient developed SIADH, sleep apnea, personality change, and amenorrhea in the course of the disease. We suggest that AASN patients might have both peripheral and central nervous system manifestations including seizures and personality changes.
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PMID:[A severe case of acute autonomic and sensory neuropathy]. 986 13

A case of Creutzfeldt-Jakob disease (CJD) with presenting Wernicke encephalopathy (WE)-like symptoms and severe insomnia is presented. An 80-year-old alcoholic man with a 6 month history of tremors, ataxia, memory loss and confabulation, developed profound insomnia, confusion, and delirium with vivid hallucinations. Polysomnography revealed a marked reduction of sleep time, with central-type sleep apnea. Neither myoclonus nor periodic synchronous discharge (PSD) was observed. An autopsy revealed diffuse spongiform changes and astrocytosis throughout the cerebral gray matter, with severe involvement of the mammillary bodies and thalamus. Prion protein (PrP) immunostaining was positive in kuru plaques in the cerebellum, PrP polymorphism at codon 129 was heterozygous Met/Val, and proteinase K resistant PrP (PrP(res)) was demonstrated by Western blotting. The lack of necrotizing lesions in the mammillary bodies, thalamus, and periaqueductal gray matter could rule out WE. The data suggest that the present case of CJD is consistent with PrP(res) type 2 (CJD M/V 2), but was unique in the lack of some typical CJD signs and the presence of signs of WE and sleep abnormalities.
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PMID:Wernicke encephalopathy-like symptoms as an early manifestation of Creutzfeldt-Jakob disease in a chronic alcoholic. 1037 Oct 84

The authors present a pediatric case of ganglioglioma occurring in the medulla oblongata. A 7-year-old boy was referred to our hospital with complaints of ataxia, seizure and sleep apnea. MRI of the brain disclosed a large tumor occupying the medulla oblongata, and the upper portion of the cervical spinal cord was also involved. The patient underwent midline suboccipital craniotomy and laminectomy of C1 to attempt radical resection of the tumor, which resulted only in partial removal of the tumor due to severe bradycardia during the operation. The histological diagnosis was ganglioglioma, WHO grade 2. Although both radiotherapy and chemotherapy were performed following the operation, the tumor remained unchanged. The patient died of respiratory arrest five months after the operation. Gangliogliomas usually occur in the supratentorial region, which permits easy surgical access and good prognosis. Only 3% of gangliogliomas occur in the brain stem, and its management can be challenging because of the difficulty of radical resection and poor response to both radiotherapy and chemotherapy.
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PMID:[Ganglioglioma of the medulla oblongata: case report and review of the literature]. 1715 72

A 15-year-old girl had no REM sleep presumably due to a pontine cavernous hemangioma was reported. Her brain MRI revealed a cavernous hemangioma extending from the dorsal pontine to the medulla. She manifested truncal ataxia, facial nerve palsy, and ocular motor apraxia. She could not sleep in the supine position due to the sleep apnea accompanied with loud snoring. Overnight polysomnography (PSG) was performed for detection of obstructive sleep apnea syndrome (OSAS). In addition to severe OSAS and Cheyne-Stokes-like respiration at wake after sleep onset, her 1st PSG study revealed no periods with rapid eye movement, EEG characteristic of REM sleep, atonia and variation on respiratory and heart rate. Even after effective therapy for OSAS with non-invasive positive airway pressure ventilation (NPPV), her 2nd PSG also failed to show stage REM. These findings suggest that this pontine cavernous hemangioma disturbed her REM-on system. This is the first report of an individual with long-term loss of REM sleep and a valuable case for the understanding of anatomical structures of the REM-on system and the role of REM in memory consolidation.
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PMID:[Deficiency of REM sleep in a patient with pontine cavernous hemangioma]. 1976 54

Acute autonomic and sensory neuropathy is a rare disorder that has been only anecdotally reported. We characterized the clinical, electrophysiological, pathological and prognostic features of 21 patients with acute autonomic and sensory neuropathy. An antecedent event, mostly an upper respiratory tract or gastrointestinal tract infection, was reported in two-thirds of patients. Profound autonomic failure with various degrees of sensory impairment characterized the neuropathic features in all patients. The initial symptoms were those related to autonomic disturbance or superficial sensory impairment in all patients, while deep sensory impairment accompanied by sensory ataxia subsequently appeared in 12 patients. The severity of sensory ataxia tended to become worse as the duration from the onset to the peak phase of neuropathy became longer (P<0.001). The distribution of sensory manifestations included the proximal regions of the limbs, face, scalp and trunk in most patients. It tended to be asymmetrical and segmental, rather than presenting as a symmetric polyneuropathy. Pain of the involved region was a common and serious symptom. In addition to autonomic and sensory symptoms, coughing episodes, psychiatric symptoms, sleep apnoea and aspiration, pneumonia made it difficult to manage the clinical condition. Nerve conduction studies revealed the reduction of sensory nerve action potentials in patients with sensory ataxia, while it was relatively preserved in patients without sensory ataxia. Magnetic resonance imaging of the spinal cord revealed a high-intensity area in the posterior column on T(2)*-weighted gradient echo image in patients with sensory ataxia but not in those without it. Sural nerve biopsy revealed small-fibre predominant axonal loss without evidence of nerve regeneration. In an autopsy case with impairment of both superficial and deep sensations, we observed severe neuronal cell loss in the thoracic sympathetic and dorsal root ganglia, and Auerbach's plexus with well preserved anterior hone cells. Myelinated fibres in the anterior spinal root were preserved, while those in the posterior spinal root and the posterior column of the spinal cord were depleted. Although recovery of sensory impairment was poor, autonomic dysfunction was ameliorated to some degree within several months in most patients. In conclusion, an immune-mediated mechanism may be associated with acute autonomic and sensory neuropathy. Small neuronal cells in the autonomic and sensory ganglia may be affected in the initial phase, and subsequently, large neuronal cells in the sensory ganglia are damaged.
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PMID:Clinicopathological features of acute autonomic and sensory neuropathy. 2073 88

This report seeks to establish the prevalence of sleep apnea in patients with the fragile X mental retardation 1 (FMR1) premutation with and without fragile X-associated tremor/ataxia syndrome (FXTAS) and to determine any correlation between CGG repeat and FMR1 mRNA levels with sleep apnea prevalence. Demographic and medical data from 430 (229 males, 201 females) participants were used in this analysis. Participants included premutation carriers with (n = 118) and without FXTAS (n = 174) as well as controls without the premutation (n = 123). Logistic regression models were employed to estimate the odds ratio of sleep apnea relative to controls, adjusted for age and gender, and also to examine potential association with CGG size and FMR1 mRNA expression level. The observed proportion of sleep apnea in premutation carriers with and without FXTAS and controls are 31.4% (37/118), 8.6% (15/174), and 13.8% (17/123), respectively. The adjusted odds of sleep apnea for premutation carriers with FXTAS is about 3.4 times that compared to controls (odds ratio, OR = 3.4, 95% confidence interval (CI) 1.8-7.4; P = 0.001), and similarly relative to premutation carriers without FXTAS (OR = 2.9, 95% CI 1.2-6.9; P = 0.014). The risk of sleep apnea was not different between controls and premutation carriers without FXTAS. The presence of sleep apnea is not associated with CGG repeat numbers nor FMR1 mRNA expression level among premutation carriers. Our data supports a higher prevalence and risk of sleep apnea in patients with FXTAS. We recommend that all patients diagnosed with FXTAS be screened for sleep apnea given the negative and perhaps accelerative impact sleep apnea may have on their FXTAS progression.
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PMID:Sleep apnea in fragile X premutation carriers with and without FXTAS. 2193 36


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