Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Snoring usually is trivial and unimportant, but it can turn into a social or medical problem. Obesity, hypertension and heart disease are more frequent among snorers than among nonsnorers, and especially snorers with hypersomnia during the day are at risk. Hypersomnia in association with snoring usually signifies obstructive sleep apnea. Increased resistance in the upper airways, together with negative inspiratory pharyngeal pressure and muscular hypotonia during deep non-REM and REM sleep, lead to collapse of the pharynx, hypoxia and hypercapnia. Only after arousal from sleep does muscle tone return, pharyngeal obstruction reopen and airflow resume. Since this process can occur 300 or 400 times a night, repetitive alveolar hypoventilation leads to pulmonary-arterial hypertension and cor pulmonale, and the repetitive sympathetic activations can cause systemic hypertension or serious cardiac arrhythmias. The countless arousals deprive the sufferer of deep non-REM and REM sleep and their consequence is sleep fragmentation. The symptoms are excessive daytime sleepiness, intellectual deterioration and personality and behavioral changes. Oronasomaxillofacial, endocrine and neuromuscular anomalies and diseases predispose to sleep apnea, and alcohol or CNS-depressant drugs can favour its occurrence. Diagnosis is made by nighttime oxymetry, and if this is abnormal, by polysomnography. After polysomnography it is possible to distinguish between obstructive and nonobstructive sleep apnea, and the decisions for an adequate treatment can be made.
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PMID:[Dangerous snoring. Sleep-apnea syndrome]. 331 92

In the frog rectus abdominis and rat phrenic nerve-diaphragm preparations, piperazine citrate was shown to have some neuromuscular blocking activity. In the rat, d-tubocurarine was 500 times more potent than piperazine. This neuromuscular blocking effect of piperazine may be responsible for the hypotonia it sometimes induces in man. High doses of piperazine increased, in mice, the sleeping time due to pentobarbitone, but decreased the threshold for convulsion due to leptazol and strychnine, thus explaining piperazine-induced somnolence and worsening of epileptic attacks in man.
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PMID:Some effects of piperazine citrate on skeletal muscle and central nervous system. 344 36

In adult geese, chronic polygraphic recordings of EEG, EOG, EMG, ECG and respiratory rate completed with behavioral observations allowed the characterization of four states of vigilance: wakefulness (W), drowsiness (D), slow wave sleep (SWS) and paradoxical sleep (PS). The EEG, EOG, EMG general patterns observed during W, D, SWS and PS episodes with nuchal isotonia or hypotonia were similar to those reported in other birds. The characteristic brevity of avian PS was confirmed since this sleep state occupied only 2.8% of the nycthemere in geese. For the first time in an adult bird it was shown that numerous PS episodes were accompanied, as in mammals, by a total disappearance of nuchal EMG activity. These observations made in a bird species with a stable head support when sleeping, suggest that, as in mammals, inhibitory mechanisms leading to a PS related nuchal atonia do exist and that head falling is not the cause of PS episodes brevity in birds.
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PMID:Polygraphic and behavioral study of sleep in geese: existence of nuchal atonia during paradoxical sleep. 405 2

A newborn is presented with hyperexcitability, drowsiness and later-on with frequent vomiting and muscular hypotonia. Examination of the urine by gas chromatography-mass spectrometry lead to the diagnosis of propionic acidemia which was confirmed enzymatically in fibroblasts. Two unusual features were encountered in this case: There were severe bouts of hyperglycemia with blood glucose values up to 396 and 747 mg/100 ml; furthermore x-ray studies and autopsy revealed a hypertrophic pyloric stenosis.
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PMID:[Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's transl)]. 611 Jan 80

Four infants with Down syndrome developed cor pulmonale and heart failure in association with chronic upper airway obstruction. Features of the sleep apnea syndrome were conspicuous; namely, noisy breathing with retraction, cyanosis and frequent apnea during sleep, and daytime lethargy and somnolence. The clinical picture masqueraded as cyanotic congenital heart disease. Arterial blood gas analyses revealed alveolar hypoventilation, especially during sleep. The nature of the obstructive element was variable. Adenoidectomy provided partial relief in one patient, and tonsillectomy and adenoidectomy resulted in temporary improvement in two others. Three patients were markedly benefitted by tracheostomy. Functional inspiratory pharyngeal closure was demonstrated fluorographically in one patient. Infants with Down syndrome may be predisposed to upper airway obstruction by virtue of hypoplasia of facial and oropharyngeal structures and generalized hypotonia. Additional obstructive elements may be contributed by hypertrophied lymphoid tissue, excessive secretions, and glossoptosis. Removal of the obstructive element is helpful, but functional obstruction may only be relieved by tracheostomy.
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PMID:Alveolar hypoventilation and cor pulmonale associated with chronic airway obstruction in infants with Down syndrome. 645 3

A case of a medial and caudal infarction of the midbrain in a 56 years old woman is reported. The clinical syndrome included a rapidly recovering sleepiness, an ophthalmoplegia related to damage to the caudal part of the oculomotor nuclear complex, a slow extrapyramidal dysarthria and a severe ataxia. The latter was characterized by the prevalent involvement of posture control, resulting from an axial hypotonia and the lack of balance reflexes. The CT scan showed a low density area in the central part of the midbrain. Electrophysiological investigations were carried out to study the impairment of the sensory and auditory tracts in the brainstem. In spite of the gravity of initial signs, recovery was good and the patient led a normal life 8 months later.
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PMID:[Regressing median peduncular infarction]. 669 25

The long term development of periodic syndromes among children is little known. Our research has revealed that about one third of periodic headaches, two thirds of cyclic vomiting and half the cases of recurring abdominal pain disappear either before puberty or during adolescence. Other Authors have shown that this also happens in most cases of early-onset vertigo. The remaining headache cases develop into migraines in adults. When there is persistent cyclic vomiting, the collateral neurologic phenomena (headaches, vertigo, pallor, hypotonia, drowsiness) become more intense. This also happens in some cases of abdominal pain and paroxysmal vertigo which start in late childhood. Other sufferers from acute abdominal pain develop ulcers, gastroduodenitis and colitis as adults. Altogether, some infantile periodic syndromes (in particular the multi-symptomatic ones) have a common outcome, i.e. develop into more or less typical migraine syndromes. In these cases one can presume a common pathogenetic mechanism. In those cases where the outcome is favorable the pathogenesis may be different. These cases may often be spotted in early childhood on account of the monosymptomatic nature of the complaint or the absence of collateral neurologic symptoms as well as of the infrequency of critical episodes.
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PMID:[Childhood periodic syndromes and their long-term development]. 692 13

Obesity, short stature, hypotonia and excessive daytime sleepiness are characteristic features of the Prader-Willi syndrome. Excessive daytime sleepiness has been attributed to obstructive sleep apnoea (OSA). To investigate the role of anatomical factors in OSA in the Prader-Willi syndrome, clinical and ENT assessment, radiology of the upper airway and polysomnography including sleep oximetry were done in 14 subjects. Excessive daytime sleepiness was present in eight of 14 subjects as determined by a mean sleep latency to non-rapid eye movement stage I-II of < 5 min and/or self-rating sleepiness score > 9 (Epworth Sleepiness scale). Seven subjects were snorers or mouth breathers and dental abnormalities were present in 11. Sleep apnoea, as determined by a combined apnoea-hypopnoea index of more than 10 respiratory events per hour was present in 12 of 14 subjects. On clinical assessment, the nasopharynx, oropharynx and hypopharynx were small in one subject. No subject had redundant pharyngeal mucosa or an enlarged tongue. However, radiological studies performed in the awake supine posture showed a slight reduction in the cross-sectional area in nine subjects at the oropharyngeal level and in four subjects at the nasopharyngeal level as compared with normal control subjects. Sleep apnoea and minor radiological evidence of narrowing of the upper airway are common in the Prader-Willi syndrome, although clinical otolaryngological examination is often unremarkable. Excessive daytime sleepiness occurs in approximately 50% of all patients with Prader-Willi syndrome. Although obstructive sleep apnoea is one important factor related to sleepiness, an additional central disturbance of sleep mechanisms is present.
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PMID:The upper airway and sleep apnoea in the Prader-Willi syndrome. 792 38

Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristic findings in this disease. The metabolic pattern found in propionic acidaemia is discussed extensively as are enzymatic findings. Residual activity of propionyl-CoA carboxylase is neither a predictive marker for severity nor for outcome of the disease. Propionate fixation assays were less reliable for confirmation of propionic acidaemia and of no prognostic value. Clinical presentation of the disease is discussed in detail. Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, dehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apathy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) various skin abnormalities have been detected in about 50% of all patients. In 27% "dermatitis acidemica" was found.
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PMID:Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. 795 90

Pyruvate dehydrogenase deficiency is one of the most common causes of encephalopathy associated with lactic acidosis and is known to account for congenital lactic acidosis, recurrent ataxia, and infantile Leigh syndrome. Hitherto, however, peripheral neuropathy has not been regarded as a presenting symptom of pyruvate dehydrogenase deficiency. Here, we report on a boy who presented peripheral neuropathy with severe limb hypotonia, absent deep-tendon reflexes, and reduced motor nerve conduction velocities at 8 months of age. Persistent hyperpyruvicemia with normal lactate/pyruvate molar ratios in plasma were highly suggestive of a pyruvate dehydrogenase deficiency, and the determination of pyruvate dehydrogenase activity in circulating lymphocytes led to the diagnosis of pyruvate decarboxylase (PDH-E1) deficiency in the proband. Based on this observation, we suggest that pyruvate dehydrogenase deficiency should be considered in the diagnosis of peripheral neuropathy in infancy, especially when associated with persistent hyperpyruvicemia, normal lactate/pyruvate molar ratios in plasma, and recurrent episodes of drowsiness and hypotonia of unknown origin.
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PMID:Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy. 815 Oct 84


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