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)

The airway of the young infant is anatomically vulnerable at the oropharyngeal level between the soft palate and the base of the skull. Airway occlusion at this level might occur during the muscle relaxation which occurs during REM sleep, facilitated by a hypermobile mandible, by the hypotonia of infection, perhaps by an enlarged tongue with a strong backwards sucking action which might be the result of the artificial feeding of the infant. It is possible that "cot deaths" (SIDS) may be precipitated by such oropharyngeal airway occlusion, cardiac arrest following variable periods of partial or complete oxygen deprivation.
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PMID:Sudden infant death syndrome: hypothesis of causation. 16 52

Clinical investigations of infants hospitalized with botulism demonstrate a remarkable uniformity of complaints and physical findings. Constipation precedes a course of progressive weakness and cranial nerve dysfunction. Examination reveals hypotonia, hyporeflexia, and a variable pattern of involvement of the motor cranial nerves. Initial laboratory investigations should include electrodiagnostic tests, because findings of an incremental response to rapid, repetitive nerve stimulation and of brief, small-amplitude motor units on electromyography are virtually pathognomonic of botulism in the infant. Differential diagnosis includes disorders that may produce generalized depression of the central nervous system, such as septicemia, meningitis, metabolic disturbances, and intoxications. Specific involvement of the neuromuscular system includes acute polyneuropathies, diseases of the anterior horn cell, congenital myopathies or muscular dystrophy, and neonatal myasthenia gravis. Recent studies have expanded the clinical spectrum of infant botulism to include some cases of sudden infant death syndrome and otherwise nonspecific constipation.
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PMID:Differential diagnosis of infant botulism. 23 67

Infant botulism is a unique neuromuscular disease affecting infants less than six months old. It is the result of intraintestinal toxin production by C. botulinum (toxi-infection). Characteristic symptoms include constipation, lethargy, and decreased feeding. Physical examination often reveals generalized hypotonia with cranial nerve impairment. Recovery is dependent on supportive care in an intensive care setting. The relationship of this disease to the sudden infant death syndrome requires further study.
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PMID:Infant botulism. 37 78

From January 1984 through August 1986, 130 infants were referred to our department with a history of apnea, hypotonia, and cyanosis or pallor, suggesting near-miss sudden infant death syndrome. Protocol consisted of medical history, clinical examination, overnight polygraphic recording, and cardiologic, gastrointestinal, metabolic, neurologic, and toxicologic workups. In 49 of these infants who needed vigorous stimulation or mouth to mouth resuscitation, the event occurred shortly after feeding. Combined, continuous esophageal pH monitoring and polygraphic recording in these 49 infants showed pathologic gastroesophageal reflux (GER) in 34 patients. An abnormal overnight polygraphic recording was observed in 8 of 34 infants with pathologic GER. Other investigations led to etiologic diagnoses in 42 of the remaining infants. Severe GER was frequently found in children with apnea after feeding but clearly is not the only mechanism involved. Infants with a history of apnea after a feeding should be investigated for GER and appropriately treated.
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PMID:Gastroesophageal reflux in infants with a history of near-miss sudden infant death. 207 21

Congenital myotonic dystrophy (CMD) is characterized by hypotonia, facies myopathica, feeding and respiratory problems, skeletal deformities and polyhydramniosis. It is an autosomal-dominant disorder transmitted via the mother. The diagnosis can as a role be confirmed by examining the mother, but can fail as she might be asymptomatic. During a nine year period, eight children were diagnosed as CMD which means an incidence of one case per approximately 3,500 live births. The diagnosis was confirmed in six of the mothers. The two floppy infants, where positive inheritance could not be proven, showed most of the signs and symptoms described in CMD. Four children died, two from respiratory insufficiency and two suddenly and unexpectedly. CMD may be one less common cause of sudden infant death syndrome (SIDS). The four children who survived displayed delayed psychomotor development.
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PMID:Congenital myotonic dystrophy. Incidence, clinical aspects and early prognosis. 356 52

Clostridium botulinum can colonize and produce botulinal toxin in the human infant intestine, which the toxin then permeates to cause generalized flaccid paralysis, and occasionally, sudden death. This study was undertaken to test the hypothesis that toxins produced by other intestinal clostridia, e.g., C. difficile, might also cause systemic illness and sometimes death in infants (J Pediatr 100:568, 1982). Because this hypothesis could not be evaluated clinically until the systemic manifestations of C. difficile toxins in primates were known, infant rhesus monkeys were given 6 to 11 micrograms/kg of the recently purified C. difficile toxins A or B, either intravenously or intraperitoneally. The animals showed no abnormalities for several hours, but then developed lethargy, hypotonia, hypothermia, and, shortly before death, sudden elevation of serum concentrations of potassium, magnesium, and phosphorus and of enzymes that derived mainly from skeletal muscle, heart and brain. Five of six animals died quietly 3.5 to 8.0 hours after onset of symptoms. Death appeared to result from cessation of breathing, after which the sinus tachycardia then deteriorated to a flat ECG. Necropsy findings were insufficient to explain the cause of death. It appears that in infant monkeys microgram amounts of C. difficile toxins A and B can produce a rapid quiet death, the cause of which is undetectable at necropsy, a situation pathologically reminiscent of crib death in human infants, although the possible clinical identity of these two conditions has yet to be established.
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PMID:Rapid death of infant rhesus monkeys injected with Clostridium difficile toxins A and B: physiologic and pathologic basis. 669 Jun 74

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.
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PMID:Infant botulism: clinical spectrum and epidemiology. 700 56

From 1977 to 1981, 500 infants had been referred to evaluate their risk for the sudden infant death syndrome (SIDS). These included 186 infants who had presented an event (prolonged apnea, hypotonia, pallor or cyanosis) initiated while asleep, 133 siblings and 181 "controls". All-night polygraphic recordings were performed in all infants, and if indicated by the history of the infants, complementary clinical investigations were done. These procedures led to the identification of 50 infants considered at risk for SIDS (10% of all referrals): 30 near-misses for SIDS, 10 siblings and 10 infants with a minor incident during sleep but with abnormal polygraphic recordings. These 50 infants (group I) were monitored at home during sleep with the help of a cardiac and respiratory monitor. Eight infants not considered at risk were monitored similarly at the request of their parents (group II). Forty of the 50 infants in group I presented with repetitive sleep apneas and bradycardias, and required stimulation by their parents to regain normal cardiorespiratory rhythm. Twelve had to be resuscitated at least once for a life-threatening event. None of the infants in group II showed alarms during sleep. Monitoring could be discontinued after a mean length of 7.2 months for the infants in group I, 4.1 months in group II. It is concluded that if identified in time through adequate investigations, some infants may be protected against SIDS through home monitoring. This approach requires expensive and well trained teams, ready, at any time, to cope with the problems that may arise in the homes of the monitored infants.
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PMID:Home monitoring of infants considered at risk for the sudden infant death syndrome. Four years' experience (1977-1981). 715 39

Mutation of mitochondrial (mt) DNA at nucleotide (nt) 8993 has been reported to cause neurogenic weakness, ataxia, retinitis pigmentosa (NARP), or Leigh syndrome (LS). We report a family in whom the mutation was expressed clinically as LS and hypertrophic cardiomyopathy (CMP) in a boy who presented with a history of developmental delay and hypotonia, and who had recurrent lactic acidosis. The mother's first pregnancy resulted in the birth of a stillborn female; an apparently healthy older brother had died suddenly (SIDS) at age 2 months. MtDNA analysis identified the presence of the T8993G point mutation, which was found to be heteroplasmic in the patient's skeletal muscle (90%) and fibroblasts (90%). The identical mutation was present in leukocytes (38%) isolated from the mother, but not from the father or maternal grandmother. Our findings expand the clinical phenotype of the nt 8993 mtDNA mutation to include hypertrophic cardiomyopathy and confirm its cause of LS.
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PMID:Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). 804 71

A review was published (1991) of 19 retrospective case-control studies that had investigated the relationship between prone sleeping position (on the stomach) and the sudden infant death syndrome (SIDS). These studies, which had been conducted between 1965 and 1990 in New Zealand, Australia, England, France and the Netherlands, showed an overall higher rate of SIDS in infants who usually slept prone. In those countries, vigorous community intervention to change babies' sleep position away from the prone has resulted in marked declines of 50 per cent or more in the rate of SIDS. Such encouraging reports from many countries prompted the American Academy of Pediatrics to recommend that infants be placed to sleep on their backs to reduce the risk of SIDS. This was followed by a successful campaign in the United States between mid-1994 and 1998. Despite the decreased incidence, SIDS remains the leading cause of death in infants 1 month to 1 year of age of industrialized nations of the world. Studies have been conducted in human infants, mechanical models and animal models to learn the role of risk factors in prone sleeping infants. Soft bedding, thermal stress and biologic risk factors such as impaired ventilatory and arousal responsiveness are among many factors that have been investigated. Hunt states that there is not a single unifying factor that explains increased SIDS in prone sleeping infants. Two major studies conducted in the 1970s showed: (1) muscle weakness in the upper half of the body in infants who subsequently died of SIDS, and (2) shoulder hypotonia in near-miss for SIDS infants. An infant sleeping face-down in the prone position could be jeopardized if he lacked the muscle strength to shift his position or turn his head to rescue himself from a life-threatening situation. In contrast, recent studies in neonates sleeping in the prone position report that normal infants can spontaneously arouse and turn their heads. Some data support the hypothesis that magnesium deficiency contributes to SIDS. Muscle strength is seriously impaired in the young magnesium deficient subject, while magnesium rapidly reverses muscle weakness. In rats, marginal deprivation in dietary magnesium reduces exercise capacity, an early effect of magnesium deficiency which is preventable by consuming magnesium-enriched mineral water. It is concluded that magnesium deficiency is at least one major unifying factor that explains increased SIDS in prone sleeping infants.
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PMID:Magnesium deficiency promotes muscle weakness, contributing to the risk of sudden infant death (SIDS) in infants sleeping prone. 1130 Jun 21


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