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 review of the anaesthetic management of children with congenital myotonic dystrophy anaesthetised at the Royal Children's Hospital over the past ten years is presented. Seven children underwent a total of fourteen anaesthetics. Anaesthetic considerations must include the degree of muscle weakness and hypotonia altering muscle relaxant requirements, aspiration risk due to palatopharyngeal dysfunction, and cardiomyopathy. Succinylcholine caused muscle contracture in a patient without clinical myotonia. This drug should be avoided. Although a low threshold to institute postoperative respiratory support must exist when treating neonates and infants, the older children did not clinically exhibit increased sensitivity to respiratory depressant drugs.
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PMID:Congenital myotonic dystrophy in children--a review of ten years' experience. 267 73

Pregnancy and delivery present a number of risks for the mother suffering from myotonic dystrophy, and for her infant. Most of the time, she does not even know that she is affected by the disease and a carrier of the gene. We review the complications of pregnancy and delivery in myotonic patients, and propose a simple management with specific items for each gestational period. The child of a dystrophic mother has a 50% risk of inheriting the abnormal gene. He may also exhibit a developmental and malformation syndrome called "congenital myotonic dystrophy". From the beginning, he may show respiratory distress, thereafter inability to swallow and severely hypotonia. Later, he may demonstrate mental retardation. Some of the most obvious signs found in neonates in our practice are illustrated. We also add a few tests to the list of those already recommended for these children.
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PMID:[The mother and infant with Steinert's myotonic dystrophy]. 292 2

Six cases of congenital myotonic dystrophy are described. Only two survived the neonatal period. There were seven neonatal deaths in the immediate families and six reported miscarriages. Of the two survivors one is moderately retarded and the other at 9 months is at the developmental level of 5-6 months. Facial diplegia and depressed deep tendon reflexes are clues to the presence of neonatal myotonic dystrophy and the diagnosis is confirmed by examining the mother who will show some of the features of the disorder. Infants may also present with non-specific respiratory problems, hypotonia and poor sucking.
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PMID:Neonatal myotonic dystrophy. 320 37

An environmental factor acting on the fetus is thought to cause a neonatal syndrome characterized by marked muscular hypotonia, lack of respiratory drive and feeding difficulties, in some infants born to mothers with myotonic dystrophy. Mortality is high, especially amongst those babies born prematurely, but muscle strength and tone improve rapidly in survivors. Nevertheless, most survivors have physical deformities and mental retardation and are thought to develop myotonic dystrophy later. We propose that alterations in maternal insulin secretion (usual in myotonic dystrophy subjects) alter fetal blood glucose and amino acid levels and retard growth and maturation of fetal skeletal muscle. This leads to severe muscular hypotonia in affected infants. Also, we suggest that infants who die during the perinatal period may not have inherited the defective autosomal dominant gene that causes myotonic dystrophy.
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PMID:Hyperinsulinemia in myotonic dystrophy: identity of the maternal factor causing the neonatal myotonic dystrophy syndrome. 388 62

Cerebral, non paralytic and peripheral paralytic hypotonia are briefly discussed. Criteria which help in the differential diagnosis are emphasized. In the usual cerebral hypotonia, muscle strength is preserved but muscle tone is decreased. However, there are a few conditions in which cerebral hypotonia is severe enough to resemble paralytic hypotonia. These conditions include the Prader-Willi syndrome (first phase), the Zellweger syndrome and some cases of congenital myotonic dystrophy. In peripheral or paralytic hypotonia muscle weakness and hypotonia go hand-in-hand. A few practical diagnostic criteria are given which allow the differentiation between anterior horn cell disease, polyneuropathy, neonatal myasthenia and myopathy. Finally, essential or benign hypotonia is briefly alluded to.
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PMID:The floppy infant: a practical approach. 636 Sep 59

The study of two families with myotonic dystrophy enables us to recall the existence of two congenital forms: one severe form with important neonatal hypotonia and one mild form with talipes equinovarus and intellectual deficiency. In both forms EMG detection is very often of the myogenic type. It confirms the diagnosis of myopathic disorder.
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PMID:[Different congenital forms of Steinert's myopathy: contribution of EMG]. 646 6

Myotonic dystrophy in the neonate is commonly accompanied by facial diplegia, generalized muscular hypotonia, talipes equinovarus, and muscular respiratory failure. The gastrointestinal manifestations of this disease include poor sucking, choking, regurgitation, aspiration, and swallowing difficulties. Gastroparesis can be a major contributor to the feeding difficulties experienced by these infants. We report on an infant with congenital myotonic dystrophy in whom a severe gastric motility problem was alleviated by metoclopramide therapy. This smooth muscle manifestation may be an important and potentially remediable source of morbidity in these infants.
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PMID:Gastroparesis in neonatal myotonic dystrophy. 654 2

Two fetuses of a patient affected with myotonic dystrophy were studied ultrasonically from 28 to 34 weeks' gestation. After a 1-hour observation period, an intravenous injection of 25 gm of 50% glucose solution was given to the mother. Fetal breathing movements were 0% during the control period and increased to only 10% at 90 minutes after the injection of glucose; the episode lasted approximately 30 minutes. The infants, who were delivered at 33 and 35 weeks, had generalized hypotonia, normal arterial cord blood gases, and died shortly after birth from pulmonary insufficiency, in spite of maximum ventilatory support. Postmortem pulmonary hypoplasia was confirmed by a lung weight/body weight ratio of less than 0.019. We postulate that fetal breathing activity and its response to the injection of glucose may be a potential clinical test by which normal fetuses can be differentiated from fetuses affected by neuromuscular disorders, including myotonic dystrophy.
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PMID:Absence or impaired response of fetal breathing to intravenous glucose is associated with pulmonary hypoplasia in congenital myotonic dystrophy. 670 17

Five pregnancies occurred in three women with myotonic dystrophy. Four of the five infants had generalized hypotonia, respiratory failure, swallowing difficulties and arthrogryposis; two of the affected infants died despite intensive treatment. The surviving affected children had a gradual improvement in respiratory and swallowing symptoms but have remained hypotonic and developmentally delayed. The fifth infant was entirely normal. Polyhydramnios was the most constant feature of the affected pregnancies. Three of the four affected fetuses weighed less than 2,500 gm. Other obstetric complications were not prominent. Second-trimester amniocentesis and linkage studies have a role in predicting myotonic dystrophy. Real-time ultrasound can be used in the prenatal diagnosis of neonatal myotonic dystrophy.
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PMID:Myotonic dystrophy in pregnancy. Prenatal, neonatal and maternal considerations. 672 94

Thirty-three patients (20 female and 13 male patients aged 13 to 52 years) with myotonic dystrophy (MyD) were studied. Ophthalmologic examination included tonography, electroretinography (ERG), and fluorescein angiography. Thirty patients had bilateral cataracts of the subcapsular type, two patients had aphakia in both eyes, and one patient had clear lenses. Hypotonia (intraocular pressure, less than or equal to 10 mm Hg) was a common finding in 19 of 66 eyes. The mean IOP was 11.8 mm Hg for the whole series and the mean outflow facility was c = 0.34 cu mm/min. Focal signs of retinouveal affection were present in nine patients. Clinically, they appeared as acquired lesions affecting the retina, pigment epithelium, and choroid. One patient was found to have an outburnt panuveitis. The ERG was normal in 11 patients, subnormal in five patients, and isoelectric in four patients. An extinguished ERG did not correlate to clinical findings of known hereditary retinal or choroidal dystrophies. The ophthalmologic findings may be explained by a primary defect related to the cell membrane.
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PMID:Ocular findings in myotonic dystrophy. 712 55


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