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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Birth asphyxia is frequent and often severe, occurring in about 10% and 1% respectively of all births; in a third it is unexpected. Delivery rooms must be organised and equipped and trained staff readily available so as to provide appropriate and timely resuscitation of the newborn. Simple procedures designed to prevent hypothermia, maintain a patent airway, improve oxygenation and ventilation are sufficient for the majority of babies. Circulatory support and biochemical resuscitation will be needed in a few. In the absence of other abnormalities, the long term prognosis for newborns who respond promptly to resuscitation is good. Every baby, no matter how severely asphyxiated must therefore be promptly and vigorously resuscitated. Only those with a Apgar score of less than 4 at 10 minutes, prolonged hypotonia or seizures have a poor prognosis. With the needs in cardio-pulmonary resuscitation understood and met, research is now being directed at neuroresuscitation.
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PMID:Resuscitation at birth. 237 83

The role of spinal cord injury in the pathogenesis of abnormal motor signs (depressed tone and reflexes) following severe perinatal hypoxia-ischemia was prospectively evaluated by clinical, electrophysiological, and neuropathological examinations in 18 asphyxiated neonates. All infants had an abnormal mental status (lethargy or coma), and seizures were present in 12. Neuromuscular examinations revealed hypotonia or flaccidity and hyporeflexia or areflexia in all infants. Neuropathological examinations of the cerebrum and spinal cord were conducted in the 12 neonates who expired. Cerebral pathological findings included cortical neuronal necrosis in 10 of 12 and subcortical white matter injury in 5 of 12. All infants with coma or seizures displayed diffuse cortical injury, but no injury conformed to a parasagittal "watershed" distribution. Spinal cord gray matter displayed prominent ischemic necrosis in 5 patients who were typically flaccid and areflexic. Electromyographic examinations of all 6 survivors were abnormal, consistent with recent injury to the lower motor neuron above the level of the dorsal root ganglion. We conclude that ischemic injury to anterior horn cells within spinal cord gray matter is relatively common among hypotonic-hyporeflexic neonates following severe perinatal hypoxia-ischemia. Although the acute neurological syndrome of neonatal asphyxia is often overshadowed by prominent cerebral signs such as coma and seizures, the motor abnormalities may be partially attributed to concurrent spinal cord injury.
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PMID:Hypoxic-ischemic spinal cord injury following perinatal asphyxia. 291 67

Prenatal onset and rapidly fatal course of centronuclear myopathy are described in four male newborns including two brothers. Diagnosis was established by muscle biopsy within the first week of life in two and at autopsy in the two other patients: Central nuclei, central aggregation of oxydative enzyme activity in the majority of muscle fibers and type 1 fibre hypotrophy were demonstrated. Prenatal manifestation included polyhydramnios, reduced fetal movements and breech presentation. All four newborns developed respiratory insufficiency requiring artificial ventilation immediately after birth. Severe muscular weakness and hypotonia as well as hardly elicitable grasping, deep tendon reflexes and Moro response were noticed. Additional findings included high arched palate, joint contractures, thin ribs, lung hypoplasia, abundant skin and cryptorchidism. In two families, the pedigree contains other affected males, suggesting X-linked inheritance. Seven female carriers were clinically healthy and one of them showed normal muscle histology. Fourteen previously published neonatal cases of centronuclear myopathy are reviewed and compared with our findings. This severe perinatal form of centronuclear myopathy has to be considered in male fetuses and newborns with polyhydramnios and respiratory failure due to muscular weakness or in infants who died of unexplained postnatal asphyxia. Diagnosis should be established by muscle biopsy.
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PMID:Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder. 379 8

We describe two cousins with severe infantile form of myotubular myopathy. In Japan this disease has previously been reported in only three families. Case 1. The propositus, a 2-year-5-month-old boy, had been on a respirator since birth. He had a history of severe neonatal asphyxia and sequential hypotonia with dyspnea. Findings diagnostic of congenital myotubular myopathy, such as central nuclei and peripheral halo of muscle fibers, were demonstrated in his biopsied muscle. Case 2. A male the cousin of case 1 had congenital myopathy and died at 3 months of age due to respiratory failure. His muscle biopsy disclosed the identical findings as had been seen in case 1. These two cases were born to twin mothers, suggesting X-linked recessive inheritance. Early diagnosis and proper treatment of myotubular myopathy are important, because this condition may be erroneously-interpreted as the sequelae of neonatal asphyxia.
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PMID:[Cousins with X-linked recessive myotubular myopathy]. 924 91