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 X-linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly in some, and an unusual and characteristic facial appearance. We describe 7 males from 4 families. One had anal stenosis. Two of the mothers and one sister show probable carrier manifestations. The features of the FG syndrome are individually non-specific. We emphasize that the characteristic combination of features is needed to avoid overdiagnosis.
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PMID:The FG syndrome: 7 new cases. 401 79

It is unknown if abnormal anal sphincter function as assessed by anorectal manometry is still present years after resolution of chronic constipation and encopresis. Twenty healthy controls, 12 children with constipation but no encopresis, and 20 children with chronic constipation and encopresis underwent anorectal manometric testing, using intraluminal pressure transducers and a balloon for rectal distention. Anorectal measurements were repeated in the 20 constipated and encopretic children 2.5-4 yr after treatment began; 11 children had recovered for at least 1 yr. The mean values of anal resting tone and of anal pull-through pressure were lower in the constipated and encopretic children than in the 20 control children (p less than 0.003). Percent relaxation of the rectosphincteric reflex after rectal distention of 30 and 60 ml was lower in constipated children with and without encopresis than in controls (p less than 0.003), whereas the means of rectosphincteric reflex threshold were comparable in the three groups of children. Three years after initiation of treatment with milk of magnesia, high-fiber diet, and bowel training techniques, the mean values of anal resting tone, anal pull-through pressure, and percent relaxation of rectosphincteric reflex remained significantly lower in both recovered and nonrecovered constipated and encopretic patients compared with controls. It was suggested that the underlying cause of chronic constipation is the decreased ability of the internal anal sphincter to relax with rectal distention, and the hypotonia of the anal canal is responsible for the encopresis. Abnormal anorectal functions were still present years after cessation of treatment and recovery and put the recovered patient at risk for recurrence of chronic constipation and encopresis.
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PMID:Abnormal rectoanal function in children recovered from chronic constipation and encopresis. 609 98

Clinical and biochemical evidence of primary hyperparathyroidism (prim. HPT) is reported in an infant with hypotonia, feeding problems and constipation from birth. Following a partial parathyroidectomy at the age of 12 months, the clinical condition improved. In her sister, mother and three other maternal relatives a familial hypocalciuric hypercalcemia (FHH) was subsequently demonstrated. All were clinically healthy in spite of increased total and ionized serum calcium, normal serum parathyroid hormone concentration, low urinary calcium excretion and normal renal excretion of cyclic AMP. Similar findings appeared in our patient after parathyroidectomy. An autosomal dominant inheritance of FHH is suggested. It is thus demonstrated, that a mother with FHH may give birth to healthy children with FHH as well as to infants with prim. HPT associated with FHH.
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PMID:Primary hyperparathyroidism in infancy associated with familial hypocalciuric hypercalcemia. 631 30

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

The FG syndrome is an X-linked recessive mental retardation syndrome. Ten patients are reviewed with special emphasis on the natural history of the intellectual development, constipation, and the prognosis for growth and behaviour. Six out of 10 patients are still macrocephalic, and there is no evidence for a specific growth pattern with respect to height. The degree of mental retardation is is usually severe. The behaviour is characteristically friendly, sociable and over-talkative, with periodic aggression. Six patients have seizures. A characteristic progression seems to occur from congenital hypotonia with joint hyperlaxity at birth, to joint contractures with apparent spasticity and unsteady gait later in life. The constipation was a temporary problem in five cases. The cowlick and the fetal pads persist and are important, but not specific, for the diagnosis.
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PMID:A clinical follow-up of British patients with FG syndrome. 805 29

Between March 1980 and March 1989 there were six identified cases of infant botulism. The presenting symptoms were predominantly poor feeding, lethargy and constipation, and the presenting signs were predominantly hypotonia, weak gag reflex and respiratory difficulty. All required intensive care and prolonged hospital stays. Recovery was eventually complete in all cases. Infant botulism is an uncommon condition but early recognition with adequate intensive care usually results in complete recovery.
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PMID:Infant botulism: a review in South Australia (1980-89). 846 Nov 74

The aim of this study was to determine the efficacy, safety, and cost-effectiveness of intrathecal baclofen delivered by a programmable pump for the chronic treatment of severe spasticity. Sixty-six patients with severe spasticity of spinal cord origin that was refractory to oral baclofen or who experienced intolerable side effects with this form of the drug were screened. The first nine participated in a double-blinded, randomized, placebo (normal saline)-controlled trial to determine response to a bolus dose of intrathecal baclofen. Subsequent patients were enrolled in an open-label treatment protocol without a placebo trial. All passed the screening, and the pump was implanted in 59 patients. Spasticity scores and medical costs before and after surgery were analyzed. In all patients, the mean Ashworth score for rigidity decreased from 4.3 preoperatively to 1.4 (p < 0.0005) with use of intrathecal baclofen. The spasm frequency score decreased from a mean of 3.6 to 0.5 (p < 0.0005). Activities of daily living, sleep, and skin integrity improved, and pain was eradicated in some. Constipation occurred in six patients. A reduction in dosage was necessitated by muscular hypotonia in three ambulatory patients, areflexic bladder and urinary retention in three others, and nausea, dizziness, and drowsiness in one. Catheter-related problems occurred 19 times in 15 patients. One pump was explanted because of infection in the pump pocket, and one was removed after it eroded through the skin. There were no pump failures. The use of intrathecal baclofen resulted in a decrease in the average length of subsequent hospitalizations. It is concluded that intrathecal baclofen delivered by an implanted programmable pump is a safe, effective, and cost-efficient method for treatment of severe intractable spinal spasticity.
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PMID:Chronic intrathecal delivery of baclofen by a programmable pump for the treatment of severe spasticity. 912 19

FG syndrome: The trias mental retardation, hypotonia and constipation reviewed: A family with FG syndrome in two males and mild features in their mothers is reported. The data of the present family are compared with the 56 patients from the literature. At birth, affected individuals present with hypotonia and constipation and/or anal anomalies and joint hyperlaxity. Mental deficiency is the rule. Craniofacial dysmorphism is nonspecific. Macrocephaly may be present at birth or develop later in life. Features in older patients include joint contractures and a typical pleasant personality, sometimes with sudden aggressive outbursts. FG syndrome has a variable clinical presentation and clinical diagnosis is difficult, especially in sporadic patients. A thorough family examination with special attention to mild symptoms in female relatives is emphazised.
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PMID:FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. 877 18

We present data on 4 mentally retarded brothers, 2 of whom were dizygotic twins with congenital hypotonia, constipation, head size disproportionately large for length or height, and a combination of minor anomalies suggestive of FG syndrome. These brothers have a mentally retarded full sister with similar minor anomalies and an older half-brother with the Martin-Bell syndrome. The mother is mentally retarded; 4 of 7 individuals are positive for fragile X, but all have a CGG expansion ranging from 0.2-2 to 4 kb. Although the phenotype is not completely typical of the FG syndrome and the coincidence of the FMR1 mutation and segregation of the MCA/MR phenotype are highly unlikely, the FMR1 mutation may affect morphogenesis more extensively and differently than the Martin-Bell syndrome does to effect an FG syndromelike phenotype in certain families. This phenotype does not appear to be a contiguous gene syndrome, but an effect of the FMR1 mutation on an adjacent gene must be considered.
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PMID:Fragile X mutation and FG syndrome-like phenotype. 884 90

In this report we describe two unrelated young males with severe mental retardation, persisting hypotonia, and constipation. A maternal uncle of one of these two boys died at the age of 18 months and presented the same clinical symptoms. The triad mental retardation, hypotonia, constipation is a characteristic finding in the FG syndrome, an X-linked mental retardation syndrome. At the present time, there is increasing evidence that the FG syndrome-phenotype may be present in different XLMR conditions, e.g. the fragile X syndrome. In addition to the triad severe mental retardation, hypotonia, constipation, the present two male index patients had a characteristic facial appearance with nasal hypoplasia, relative microcephaly and pre- and postnatal overgrowth. The question is raised whether the present two males are examples of a specific entity within the FG-syndrome-like phenotype.
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PMID:Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males. 900 1


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