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)

Radiological abnormalities of the ribs are reported in 5 newborn infants with myotonic dystrophy. In all 5, the ribs appeared very thin, in contrast to the normal appearance of the rest of the skeleton. This slenderness, which is important for diagnosis and prognosis, seems to be caused by hypotonia of the intercostal muscles. However, it is not pathognomonic of myotonic dystropy, for it can be observed in other myopathies.
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PMID:Myotonic dystrophy (Steinert's disease) in the neonate. 66 70

The article describes pregnancies and labors of five women with myotonic muscular dystrophy and their four severely involved infants, and reviews the pertinent literature. Three of the four neonatal cases died by 3 weeks of age of respiratory failure or aspiration; the fourth infant is now 4 months old and has respiratory and swallowing difficulties. The symptoms of myotonic dystrophy worsen during pregnancy. A high rate of fetal loss occurs due to spontaneous abortion, prematurity, and neonatal involvement with the disease. Prolonged labor has been described as a consistent complication, but the evidence does not justify this conclusion. Although many neonates with myotonic dystrophy are asymptomatic, severely affected newborns have a recognizable disorder unrelated to the severity of the maternal disease. The most common clinical manifestations in the neonate are arthrogryposis involving predominantly the lower extremilies, generalized hypotonia and weakness, and pharyngeal weakness. Less constant features include polyhydramnios, facial diplegia, diaphragmatic paralysis, respiratory failure, decreased motility of the gastrointestinal tract, congenital cataracts, and electrocardiographic abnormalities.
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PMID:Clinical effects of myotonic dystrophy on pregnancy and the neonate. 77 28

A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of talipes occurs at birth together with hydramnios and reduced fetal movements during pregnancy, factors suggesting prenatal onset of the disorder in many cases. Prolonged survival is the rule after infancy, but the occurrence of numerous neonatal deaths in the sibships suggests the existence of unrecognized cases dying in the neonatal period.
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PMID:Congenital myotonic dystrophy in Britain. I. Clinical aspects. 110 35

Myotonic dystrophy should be included in the differential diagnosis of neonatal respiratory failure accompanied by hypotonia. The effect of this disorder in an infant who died from it 49 hours after birth is described, and the importance of examining the mother of a possible case is emphasized.
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PMID:Neonatal respiratory failure due to myotonic dystrophy. 116 72

Observations relating to 18 cases of the neonatal form of myotonic dystrophy are described. These consisted of 9 cases of severe forms incompatible with survival, characterised by major respiratory disorders, hypotrophia and difficulty in swallowing, associated with a facial diplegia and pes equinus. The other 9 patients suffered from more moderate, not lethal forms. In addition to muscular troubles manifested by precocious hypotonia, the disease involved serious mental retardation. The absence of myotonia was constant in the very young infants. Anomalies in pregnancies resulting in the birth of children suffering from a neonatal form of myotonic dystrophy are analysed and their frequency is emphasized. From the genetic point of view, the elective transmission of myotonic dystrophy by the mothers was found in all the cases. The knowledge of neonatal forms must be taken into consideration for genetic counseling.
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PMID:[Clinical and genetic aspects of the early form of Steinert's dystrophia myotonica]. 121 49

We describe the maternal and neonatal complications of pregnancy in two patients with myotonic dystrophy. The disease leads to an increased spontaneous abortion rate, hydramnios, prolonged first and second stages of labour, retained placenta, postpartum haemorrhages and anaesthetic sensitivity in the mother. The neonatal problems are caused by the congenital form of the disease. The major clinical features of congenital myotonic dystrophy are bilateral facial weakness, hypotonia, neonatal distress, feeding difficulties, talipes, tent-shaped mouth, mental retardation and delayed motor development. Relatives of a known myotonic dystrophy patient should be advised to let themselves be examined for this disease. If the disease is diagnosed, information should be given regarding possibilities for prenatal diagnosis. Pregnancy in myotonic dystrophy patients should be monitored by a gynaecologist. Labour has to take place in a hospital with intensive care facilities for mother and child.
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PMID:[Dystrophia myotonica and pregnancy]. 146 72

To investigate the diagnostic validity of electromyography in the hypotonic infant, 79 children aged 0 to 12 months, seen over a 20-year period, were studied retrospectively. The diagnoses using clinical, muscle biopsy, and laboratory characteristics were: 25 central hypotonia, 20 spinal muscular atrophy, 20 myopathy, four myotonic dystrophy, four benign congenital hypotonia, two congenital muscular dystrophy, two myasthenia gravis, one infantile inflammatory myopathy, and one arthrogryposis multiplex congenita. Using strict criteria, electromyography accurately predicted the final diagnosis in 65% of infants with spinal muscular atrophy and was consistent with the diagnosis in another 25%. In contrast, electromyography accurately predicted the final diagnosis in only 10% of infants with myopathy and was normal in 88% of infants with central hypotonia. In infants with spinal muscular atrophy, there was no difference in the predictive value of electromyography when performed in the newborn compared to older infants. Normal distal nerve conduction velocities in infants with spinal muscular atrophy may predict prognosis, since these infants had a longer survival. Electromyography thus has a high predictive value for infantile spinal muscular atrophy but not for myopathy.
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PMID:Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant. 146 46

We report a case of congenital myotonic dystrophy in a newborn infant who presented with hydrops fatalis. Clinical features were hypotonia, generalized edema, pleural effusion, respiratory distress, scalp hematomas, and tented mouth facies. Review of literature shows that congenital myotonic dystrophy is not a rare cause of nonimmune hydrops fetalis as previously thought.
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PMID:Hydrops fetalis associated with congenital myotonic dystrophy. 155 Jan 67

Ten cases of congenital myotonic dystrophy have been reported and EMG findings described. In 5 neonates, EMG was performed between the 4th and 27th d of life. Four very severe cases had a fatal outcome, the 6 others were of mild severity, showed hypotonia, motor delay and mental handicap. In 9 cases, diagnosis was not established before birth. The EMG myogenic criteria were present in 2 muscles or more in each case, and were predominantly present in the proximal muscles. Clinical myotonia was absent in all cases but electrical myotonia was provoked by motor nerve stimulation using a current of long duration. The authors emphasize the interest of this stimulation-detection method which was able to exhibit myotonic discharge in 6 patients including 3 neonates.
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PMID:[Early electromyographic signs in congenital myotonic dystrophy. A study of ten cases]. 194 71

Neuromuscular disorder can cause neonatal respiratory insufficiency. One male term newborn with Werdnig-Hoffmann disease and two preterm infants with congenital myotonic dystrophy Curshmann-Steinert-Batten are reported. Hydramnion, few spontaneous movements, prematurity, increasing respiratory insufficiency, hypotonia and myopathic facies of the mother are typical for congenital myotonic dystrophy.
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PMID:[Neuromuscular diseases as a cause of neonatal respiratory insufficiency]. 196 Dec 9


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