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)

Six Italian university centers have taken part in the Perinatal Preventive Medicine Project of the National Research Council since 1973. In this report the preliminary data on neonatal neurological disorders of 38775 single not malformed infants are presented. Neurological abnormality has been defined by the presence of at least one of the following symptoms: seizures, hypertonia, hypotonia, apneic spells. The relative frequencies of seizures vary from a minimum of 0.28% to a maximum of 0.75% in the six centers. The frequencies of the other symptoms demonstrate a greater variability among centers. Males are more affected than females. The relative frequency of neurological abnormalities is higher among babies with low birthweight, short gestational age or retarded intrauterine growth. Also, the frequency of seizures is higher among babies with low birthweight or retarded intrauterine growth while the relationship between seizures and gestational age is not clear.
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PMID:[Neurologic pathology in the neonatal period: relation to birth weight and gestational age]. 357 28

Morphological study of peripheral nerves in two patients with globoid cell leucodystrophy (Krabbe's disease) demonstrates: 1degree segmentary demyelination; 2degrees marked loss of large (8-10 micra) myelinated fibres; 3degrees significant increase of the mean transverse fascicular area by proliferating collagen fibres; 4degrees electron-microscopic signs of remyelination with small onion-bulb formations. These findings can explain clinical features such as the disappearance of the deep tendon reflexes, the gradual transition of hypertonia into combined hypertonia-hypotonia and the concomitant slowing of nerve conduction velocity. The ultrastructural study reveals the presence of large and small inclusions which are either located within lysosomes or free in the cytoplasm of Schwann cells and fibroblasts. The inclusions are probably consequences of the disturbed metabolism of cerebrosides. Their appearance is sufficiently specific in order to allow a diagnosis of Krabbe's disease.
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PMID:[Globoid cell leucodystrophy (Krabbe's disease). Peripheral nerve lesion (author's transl)]. 437 97

Extensive investigation of the role of the fusimotor system in the production of hypotonic and hypertonic disorders of posture and tone has been undertaken in humans and experimental animals. The data from human studies have usually been from indirect assessment of the fusimotor system, and results are often contradictory. Results are now available from animal studies utilizing direct recording of muscle spindle afferent discharge in a number of models of human disorder. Conditions resulting in hypotonia, e.g. cerebellar ablations, medullary pyramidotomy, VL nucleus, thalamotomy, acute spinal cord transection, and acute motor cortex ablation uniformly result in a depression of muscle spindle primary afferent discharge. Conditions resulting in hypertonia, e.g. chronic spinal cord transection and chronic motor cortex ablation, fail to show heightened muscle spindle afferent discharge, however. Rather the spindle afferent discharge returns to control levels in the models. Recovery from the hypotonic to the hypertonic state is, however, associated with significant recovery of spindle afferent function.
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PMID:Rehabilitation following brain damage: some neurophysiological mechanisms. Physiological correlates of clinically observed changes in posture and tone following lesions of the central nervous system. 622 98

The Marden-Walker syndrome was first described in 1966. The main features are microcephaly, peculiar facies due to blepharophimosis, micrognathia, low-set ears, joint contractures, muscular hypotonia, growth failure, and developmental delay. We report the case of a child presenting with almost all of these features, but with muscular hypertonia. Differential diagnosis includes Schwartz-Jampel syndrome. Pathogenesis is unknown.
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PMID:[Craniofacial dysmorphism with flexion of the fingers. Marden-Walker syndrome?]. 629 28

The purpose of this work was to review the literature about the newborn neurological pathology and to compare it with our results starting from the observation of 650 children who born at the Clinical Hospital of Porto Alegre from September 1979 to June 1980. Out of these, 100 presented with neonatal neurological pathology. These newborn were studied as to the age of the mother at the birth time, Apgar rate, weight and cephalic perimeter at the birth time, probable etiologies, and clinical picture and evolution. These newborn were compared to control groups and the results were discussed on the grounds of literature. Out of 100 newborn with neurological pathology, 65% presented with pathological neurological examination and 35% with normal neurological examination. The 65 newborn with pathological neurological examination had hypotonia, decreased deep tendon reflexes, decreased or absence of superficial reflexes in 40 cases. Hyperactivity, hypertonia and tremors were observed in 25 cases. Coma was present in 6 of these newborn with apathy and hypotonia. Seizures were present in 41 cases. EEG was performed in 29 of these 41 cases in the first five days of life. The EEG was normal in 15 (51.7%) newborn and it was pathologic in 14 (48.3%) newborn. The 100 newborn had the following diagnosis: 37 birth anoxia, 13 hemorrhages, 24 meningitis, 14 metabolic seizures, 4 sepsis, 1 kernicterus, 2 chromosomopathies, 3 malformation, 1 cerebral palsy, and 1 congenital rubeola. Out of the 37 newborn with birth anoxia, 20 (54.1%) had a good evolution, 7 (18.9%) had sequela and 10 (27.0%) died. Out of 13 newborn with hemorrhages 2 (15.4%) had a good evolution, 5 (38.5%) had sequela, and 6 (46.1%) died. Out of 24 newborn with meningitis, 18 (75.0%) had a good evolution, 5 (20.8%) had sequela, and 1 (4.2%) died. Out of 58 newborn with a good evolution, 30 had normal newborn neurological exam, and 28 had transient alterations. Out of 23 newborn who presented with sequela later on, only 5 had normal newborn neurological exam. All the 19 who died, had pathological newborn neurological exam.
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PMID:[Neurological pathology in the newborn infant]. 653 54

A 4-year-old patient is described with hyperphenylalaninemia, severe retardation in development, severe muscular hypotonia of the trunk and hypertonia of the extremities, convulsions, and frequent episodes of hyperthermia without infections. Urinary excretion of neopterin, biopterin, pterin, isoxanthopterin, dopamine, and serotonin was very low, although the relative proportions of pterins were normal. In lumbar cerebrospinal fluid, homovanillic acid, 5-hydroxyindoleacetic acid, neopterin and biopterin were low. Oral administration of L-erythro tetrahydrobiopterin normalized the elevated serum phenylalanine within 4 h, serum tyrosine was increased briefly and serum alanine and glutamic acid for a longer time. Urinary dopamine and serotonin excretion were also increased. Administration of an equivalent dose of D-erythro tetrahydroneopterin was ineffective and demonstrated that this compound is not a cofactor in vivo and cannot be transformed into an active cofactor. GTP cyclohydrolase I activity was not detectable in liver biopsies from the patient. The presence of an endogenous inhibitor in the patient's liver was excluded. This is the first case of a new variant of hyperphenylalaninemia in which the formation of dihydroneopterin triphosphate and its pterin metabolites in liver is markedly diminished. Normal activities of xanthine oxidase and sulfite oxidase were apparent since uric acid levels were normal and no increase in hypoxanthine, xanthine, and S-sulfocysteine concentrations could be observed in urine. It is concluded that the molybdenum cofactor of these enzymes may not be derived from dihydroneopterin triphosphate in man. Also, since no gross abnormalities in the patient's immune system could be found, it seems unlikely that dihydroneopterin triphosphate metabolites, such as neopterin, participate actively in immunological processes, as postulated by others. See Note added in proof.
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PMID:GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. 673 69

Perinatal data of 29 cerebral palsy (CP) children and 237 control children were analyzed to identify etiological and predictive factors for cerebral palsy. Obstetrical and neonatal factors associated with CP in the low-birth-weight group were sex (male) and place of birth, and in the normal-birth-weight group they were prolonged delivery, meconium staining of the amniotic fluid, an Apgar score of less than 4 at 1 minute, the first respiration occurring only after 3 minutes, and the first cry taking place after 7 minutes. The following neonatal signs and symptoms were strongly associated with CP in the both birth weight groups; convulsion, hypotonia, hypertonia, absence of the Moro reflex, tremor, and apnea. A linear discriminant function was developed from the above neonatal signs and symptoms. The use of three factors, convulsion, hypotonia, and apnea efficiently discriminated between the CP and control children and they would be used as good predictive factors for cerebral palsy.
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PMID:Prediction of the development of cerebral palsy from perinatal risk factors. 684 29

Study of 52 cases of empiric treatment of cataract by couching. This technique, still much used in african traditionnal medicine, is first described and then the results are considered (69 globes and 52 patients): -- total or practical blindness: 55 globes: keenness of sight: from 1/10 to 2/10: 2 globes, above 3/10; 12 globes (5 globes out of these 12 have been controlled after a delay above 2 years). -- Hypotonus: 22 globes Normotonus: 26 globes (8 out of these 26 with an excavated papillar atrophy) Hypertonus: 21 globes.
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PMID:[Evaluation of the traditionnal Arabic technique of couching in the treatment of cataract in Mali (author's transl)]. 732 48

A 45-year-old woman with a history of probable perinatal craniocerebral trauma resulting in mild asymptomatic right hemiatrophy developed right leg weakness and hypotonia alternating with dystonia only after prolonged exertion at age 12. At age 27, she developed right-sided parkinsonism. Exertional paresis and dystonia and parkinsonism responded completely to levodopa; however, she developed a progressive reduction in the duration of action of levodopa over the first 4 years of treatment. Investigations including computed tomography, magnetic resonance imaging, [18F]fluorodopa, and [18F]fluorodeoxyglucose positron emission tomography scans suggested a static lesion involving the left substantia nigra. This unusual exertion-induced weakness and hypotonia alternating with hypertonia and dystonia has not been reported previously. The role of dopamine deficiency in dystonia and the role of levodopa in the development of fluctuations in Parkinson's disease are discussed. Review of the literature, including this patient, emphasizes the heterogeneity of the syndrome of hemiparkinsonism-hemiatrophy.
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PMID:Hemiatrophy, juvenile-onset exertional alternating leg paresis, hypotonia, and hemidystonia and adult-onset hemiparkinsonism: the spectrum of hemiparkinsonism-hemiatrophy syndrome. 756 31

Vegetative disturbances were observed in 88 out of 102 patients, 86%, after a primary brain lesion during onset of brain death. Tachycardia was most common in 64%, hypotonia below 80 mm Hg and hypertonia above 170 mm Hg were present in about half of all cases. Hyperthermia above 40 degrees C was noted in 25%, hypothermia below 36 degrees C was observed in 31%. The kind of underlying brain lesion had no regular influence on the vegetative disturbances. In 5 out of 6 younger patients these disturbances were less pronounced.
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PMID:[Autonomic dysfunction and the development of secondary brain death syndrome]. 763 45


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