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 case of acute intoxication in a 60-yr-old woman who ingested 20 mg of clonidine is presented. The patient showed CNS depression (bradycardia, hypotonia) with systemic hypertension and peripheral vasoconstriction. She was treated with atropine and sodium nitroprusside. There was no recurrence and the patient recovered in 8 days.
Crit Care Med 1983 Dec
PMID:Clonidine overdose. 664 Dec 56

Acute-phase and convalescent-phase sera of 66 children, aged 3 months to 12 years, with neurologic disorders of unknown etiology were tested against Legionella pneumophila polyvalent and monovalent antigens (groups 1 to 4). Three significant antibody titer increases were obtained, all in children with acute cerebellar ataxia. This neurologic syndrome was characterized by sudden onset of muscle hypotonia and inability to sit or walk, with no other specific neurologic or systemic symptoms. Persisting pharyngitis always preceded ataxia. Fever of short duration was still present. Gastrointestinal disturbance occurred in two of the three children. Abnormal laboratory findings were, not always simultaneously, high ESR and leukocytosis with lymphocytosis. CSF levels and electromyographic findings were normal in two of the children. Two children received oral betamethasone. Recovery was complete within seven to ten days without antibiotic treatment. These studies indicate the possible etiologic role of L pneumophila in acute cerebellar ataxia.
Pediatrics 1983 Dec
PMID:Acute cerebellar ataxia in pediatric legionellosis. 664 29

A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.
J Med Genet 1983 Dec
PMID:Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33). 665 73

We report on a female newborn baby with a "myopathic" stiff face, open mouth, high-arched palate, microgenia, generalized muscular hypotonia, limited extension of elbows, wrists and knees, flexed adducted thumbs, velopharyngeal insufficiency, and hypertrichosis. Death occurred at 3 months due to respiratory insufficiency. Muscular biopsy revealed myopathic abnormalities.
Eur J Pediatr 1983 Dec
PMID:Adducted thumb syndrome. Report of a new case and a diagnostic approach. 666 43

Between 1977 and 1979, 12 cases of infant botulism were diagnosed in Utah, and 87 control patients (normal, nonbotulism neurologic disease, and nonbotulism systemic disease) were evaluated. Observations from these patients suggest an expanded clinical spectrum of infant botulism including asymptomatic carriers of organism; mild hypotonia and failure to thrive; typical cases with constipation, bulbar weakness, and hypotonia; and children with a picture compatible with sudden infant death syndrome. Clostridium botulinum was isolated from the stools of three normal control infants and nine control infants who had neurologic diseases that were clearly not infant botulism. These infants were termed "asymptomatic carriers" of the organism. The occurrence of the asymptomatic carrier state suggests that a diagnosis of infant botulism cannot be made on a basis of culture results alone, but must rest in historical documentation and physical confirmation of progressive bulbar and extremity weakness with ultimate complete resolution of symptoms and findings over a period of several months. A common set of environmental features characterizes the home environment of children with infant botulism and "asymptomatic carriers" and includes: nearby constructional or agricultural soil disruption, dusty and windy conditions, a high water table, and alkaline soil conditions.
Pediatrics 1980 Dec
PMID:Infant botulism: clinical spectrum and epidemiology. 700 56

There is controversy over the usefulness of electromyography (EMG) in the examination of hypotonic infants with suspected neuromuscular disease. We compared the initial EMG findings of 51 such children under 1 year of age with their final clinical diagnoses determined by independent means. The EMG predicted the final diagnosis in 82% of infants less than 4 months of age and 85% of those over 4 months of age. Botulism was correctly identified by EMG in nine of 11 cases. The EMG diagnosis was identical to that obtained by muscle biopsy in 64% of cases in which biopsy was done, and diagnosis obtained by the two methods were inconsistent in only 14%. Electromyography is a sensitive and noninvasive diagnostic tool for the diagnosis of neuromuscular disease in infantile hypotonia.
Am J Dis Child 1982 Dec
PMID:The diagnostic value of electromyography in infantile hypotonia. 714 59

We report a patient with a 15 leads to 1 translocation who was mosaic for presence or absence of an isodic(15p)(q11). Her phenotype is similar to that of patients with deletions of proximal 15q or isodic(15p). Several phenotypes, including the Prader-Labhart-Willi syndrome, have been described with abnormalities of proximal 15q and have in common severe hypotonia, developmental delay, and lack of major congenital anomalies. Our patient is the first to be described with an isodic (15p)(q11) associated with a nonreciprocal translocation. We think her isodic(15p)(q11) arose as a result of a sister chromatid fusion rather than nonsister chromatid exchange as has been proposed in most other cases. Because of the various phenotypes described with proximal 15q abnormalities, we recommend caution in the assignment of specific phenotypes to small chromosome changes in this area.
Am J Med Genet 1982 Dec
PMID:A 15 leads to 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11). 715 41

Five unrelated patients with a supernumerary chromosome derivative of chromosome 15 are described. The clinical findings in the present series of cases show a gross concordance with the data previously reported in subjects with similar aberrations and allow the delineation of a distinct syndrome. Although undetermined variation in the structure of these extra chromosomes may contribute significantly to phenotypic heterogeneity, the patients display a rather common constellation of findings, which include: absence of major malformations, mental and developmental retardation, seizures, hypotonia, behavioural disturbances, and reduced total ridge count on fingertips. Patients with partial trisomy 15q- resulting from dicentric chromosomes bear little resemblance to patients carrying 15q- chromosomes arising de novo or due to unbalanced translocations.
J Ment Defic Res 1980 Dec
PMID:Extra dicentric 15 pter leads to q21/22 chromosomes in five unrelated patients with a distinct syndrome of progressive psychomotor retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities. 721 39

In order to evaluate the occurrence of psychiatric disorder following infantile spasms, a long-term follow-up study (between three and 19 years) was made of 192 children in Finland. Psychiatric disorders were found in 53 of the children. 24 had infantile autism (transient in 14 cases), 16 of whom were also hyperkinetic, as were an additional 29 cases from the whole group. Considerable muscular hypotonia was frequently combined with infantile autism, but both tended to decrease with age. Autistic children often had psychomotor epilepsy and temporal lobe abnormalities, which suggests that organic lesions with a specific localization may be a pathophysiological basis for autism. In addition, the hyperkinetic children had more focal temporal abnormalities in their EEGs than did the children without psychiatric disorders.
Dev Med Child Neurol 1981 Dec
PMID:Psychiatric disorders in children with earlier infantile spasms. 731 42

A 9.5-year old severely mentally retarded boy is reported with the typical features of the Cohen syndrome. It is emphasized that this syndrome be differentiated from other constitutional syndromes featuring mental retardation, obesity short stature and hypotonia, because of a different genetic prognosis. Compared to the Prader-Labhart-Willi syndrome the craniofacial appearance of this autosomal recessively inherited malformation syndrome is characterised by antimongoloid position of the eyes, dental anomalies with prominent upper incisors and malocclusion, and high-arched palate. Ocular anomalies mostly include pigmentary retinal anomalies. Whereas hypotonia is severe from the beginning, obesity becomes only striking after the age of 5 years.
J Genet Hum 1981 Dec
PMID:The Cohen syndrome. 732 19


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