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)

A partial duplication of the distal segment of the long arm of chromosome 5 (q31 leads to qter) was observed in an infant with congenital malformations and dysmorphic features. The phenotypically normal father had a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 9: 46,XY,t(5;9)(q31;p24). The clinical and cytogenetic data obtained from six patients with partial duplications of two different long arm segments of chromosome 5 suggest that partial duplication of the distal long arm of chromosome 5 is associated with microcephaly, hypertelorism, epicanthus, strabismus, large upper lip, low-set, dysplastic ears, in addition to growth and psychomotor retardation. Partial duplication of the proximal part of the long arm of chromosome 5, on the other hand, is associated mainly with musculoskeletal abnormalities including muscle hypotrophy and hypotonia, scoliosis, lordosis, pectus carinatum, cubitus valgus, and genu valgum, in addition to psychomotor retardation. The dysmorphic features in this latter group include a bulging forehead, short nose, thick upper lip, low-set protruding ears and tapering, thin fingers.
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PMID:Partial duplication of the long arm of chromosome 5: a case due to balanced paternal translocation and review of the literature. 50 89

Damage to the myocard caused by the loss of blood was studied in experiments on dogs. After long-lasting hypotonia focal lesions of the myocard of degenerative type have been found. Desorganization of the myofilaments and invagination of the disc could be seen in the area of the intercalar discs. Filaments in the other regions have not shown any alterations. In the mitochondria hypoxic lesions were revealed. One part of the alterations are not reversible. After 48 hours of survival focal necrosis with hyper contraction and calcification could be observed. It was surrounded by cellular infiltration containing mononuclear cells. Cellular necrosis revealed, may lie on the basis of the central lesion of the circulation appearing after long-lastng hypotonia.
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PMID:[Myocardial damage in hemorrhagic hypotension]. 50 92

Perfusion althesin, pentazocin and an association of halothane was used in more than 500 eye operations. A number of parameters (left humerus arterial pressure, heart rate, CVP, IOT) were measured and assesed statistically in 21 selected patients and a pathogenetic interpretation of observed bulbar hypotonia attempted. The important bulbar hypotonizing action brought on by this anaesthetic procedure, and the favourable course of surgery with the technique are confirmed.
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PMID:[Bulbar hypertension in eye surgery]. 50 54

Eight cases of late infantile neuroaxonal dystrophy are reported. In all cases, the diagnosis was made during life on the basis of the clinical picture and course, the results of neurophysiological studies and the finding of typical spheroids in cortical or peripheral (skin and conjunctival) biopsies. A review of 76 previously published cases revealed that 42 displayed a stereotyped clinical picture identical to that exhibited by our 8 patients. The most important clinical features, as they emerge from the study of these 50 cases, are those of a progressive disorder starting at the end of the first or beginning of the second year of life, progressive motor and mental deterioration bilateral pyramidal tract signs, marked hypotonia and early visual disturbances without epileptic seizures. The presence of high voltage, fast rhythms in the EEG and signs of denervation of an anterior horn-cell type at EMG, with normal nerve conduction velocities, is frequent additional evidence in favour of infantile neuroaxonal dystrophy. The finding of spheroid bodies in axonal endings seems to be constant and is necessary for an in vivo diagnosis. Spheroids can be found in peripheral tissues, for example, skin and conjunctiva, and cortical biopsy is no longer required. The spheroids, however, are not specific and both clinical and pathological features are necessary to establish a firm diagnosis. Since infantile neuroaxonal dystrophy is a recessively inherited disorder its recognition is imperative even though the nosology of the disease remains uncertain.
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PMID:Infantile neuroaxonal dystrophy. 50 95

A 3 6/12 years old girl with micromelic type of spondylo-meta-epiphyseal dysplasia combined with hepatosplenomegaly and muscular hypotonia is described.
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PMID:[Micromelic type of spondylo-meta-epiphyseal dysplasia (author's transl)]. 51 76

Two children from a small Amerindian community presented with profound retardation, initial hypotonia progressing to hypertonia, scaphocephaly, a prominent occiput, poor postnatal head growth, and additional minor anomalies. Abuse of gasoline by inhalation was a widespread problem in the community, and gasoline inhalation during the pregnancy could be documented in both of the pregnancies. We are raising the question as to whether inhalation of gasoline during pregnancy may be teratogenic in humans.
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PMID:Is there a fetal gasoline syndrome? 51 65

Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one patient manifested only minimal dysmorphic features, whereas the other had a distinctive pattern of anomalies consisting of an abnormal skull configuration with mild maxillary hypoplasia, a large nose, thick full lips, a protruding tongue, lymphedema, hypotonia and an unsteady gait. The findings in these and previously reported patients indicate that a ring chromosome 22 is usually associated with moderate to severe mental retardation, with a range of dysplastic features from mild and nonspecific to more marked and distinctive.
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PMID:Phenotypic variation in two patients with a ring chromosome 22. 51 2

The authors report three patients suffering since infancy from transient attacks of paresis. The flaccid pareses most frequently affect the extremities in a hemiplegic fashion, but occasionally there is monoparesis or quadriparesis. The laterality and degree of the paresis are variable. Conciousness is always preserved, and in two cases attacks were preceded by ocular motor disturbances (skew deviation, nystagmoid jerks and conjugate deviations). Exceptionally, the transient hemiparesis may be preceded by a grand mal epileptic fit, though they are more likely to appear sporadically and independently of the paretic changes. In the interparoxysmal periods the children showed pronounced hypotonia, hyperkinetic extrapyramidal features and oligophrenia. Neuroradiological procedures have excluded brain anomalies of vascular or other aetiology and simple biochemical analyses were negative. EMG during paretic periods have revealed central motor neuron lesions, while EEG demonstrated non-specific paroxysmal features. A brain-stem dysfunction in the aetiology is postulated.
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PMID:Paroxysmal hemipareses in childhood. 52 Jul 18

Two neonates showing generalized hypotonia, weakness of limbs, trunk, and oral musculature died because of muscular respiratory distress. The diagnosis of centronuclear (or myotubular) myopathy was established by histological and histochemical techniques. The genetic situation and routine laboratory data including electromyography were compared with similar cases in the literature; findings were inconclusive with respect to this diagnosis. These results indicate the need for a muscle biopsy and the use of histochemical stainings and/or electronmicroscopical investigation for a proper diagnosis in hypotonic newborns under respiratory distress after exclusion of etiologies other than neuromuscular diseases. Still the diagnosis of centronuclear myopathy in a neonate does not allow a precise prognosis. Increased awareness of this disorder and adequate diagnostic workup is needed in order to extend our understanding and to clarify the prognosis.
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PMID:Neonatal respiratory insufficiency due to centronuclear myopathy. 52 48

The results of the double examination of the stomach in a series of 102 patients were compared with the findings at endoscopy. Nasogastric intubation was used to introduce the air into the stomach. Hypotonia was achieved mainly with glucagon. The radiologic error rate was 10 per cent, consisting of 7 per cent false negative and 3 per cent false positive findings. The diagnostic advantages of the double contrast technique over those of the conventional barium examination are discussed.
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PMID:Double contrast examination of the stomach compared with endoscopy. 52 16


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