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 mentally retarded, 10-year-old female with obesity, hypotonia, clumsiness and mild ocular abnormalities excreted in her urine large amounts of alpha-aminoadipic acid. Amino acid analyser studies and gas-liquid chromatography--mass spectrometry (GC--MS) confirmed the presence of alpha-aminoadipic acid in both urine and plasma but, in contrast to most other patients with this disorder, failed to demonstrate significant levels of alpha-ketoadipic acid in urine. Other known causes of alpha-aminoadipic aciduria were eliminated by showing that levels of lysine, saccharopine and pipecolic acid in plasma and urine were normal and that the activity of glutaryl-CoA dehydrogenase was also normal. Loading with L-lysine and L-tryptophan both increased the concentration of alpha-aminoadipic acid in blood and urine compatible with the primary deficiency of alpha-ketoadipate dehydrogenase, in spite of the absence of alpha-ketoadipic aciduria. Dietary restriction of lysine and administration of vitamins B1 and B6 were unsuccessful in correcting the biochemical abnormality.
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PMID:Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria. 11 47

A total of 244 epileptic children were collected in an epidemiological and prognostic investigation on epilepsy. The children were divided into four groups according to their motor performance. There were 150 children with no motor handicap, 32 with clumsiness, 51 with cerebral palsy and 11 with severe muscular hypotonia associated with grave mental handicap. A study was made of age at onset of epilepsy, intelligence level, maximum frequency of seizures, grand mal status, results of medical treatment, and the time elapsed since the last seizure. A significant correlation was found between severity of motor handicap and poor prognosis of epilepsy.
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PMID:The significance of motor handicap in the prognosis of childhood epilepsy. 12 17

Hypotonic oesophagography was performed in 149 patients after the intravenous injection of propanthelin bromide (Pro-Banthine). An injection of 0.25-0.50 mug/kg body weight led to hypotonia of the oesophagus in 96% of cases. During hypotonia, it was possible to demonstrate oesophageal varices in 24 out of 27 patients, and small hiatus hernias in 10 out of 23 patients. Conventional examination demonstrated oesophageal varices in only 13 of the 27 cases and hiatus hernias in four out of the 23 cases. Hypotonic oesophagography thus leads to an improvement in the accuracy in the diagnosis of oesophageal varices and small hiatus hernias. Following injections of Pro-Banthine, transient side effects were observed consisting of tachycardia, difficulties in accomodation, reduction in salivary excretion and difficulties in micturition. Pro-Banthine is contra-indicated in the presence of glaucoma, severe cardiac and circulatory diseases and urinary obstruction.
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PMID:[Hypotonic oesophagography using propanthelin bromide (Pro-Banthine) (author's transl)]. 12 97

In two sisters with a neo-natal hypotonia, muscle biopsies demonstrated as main pathological feature a disproportion in size between the two types of muscle fibers defined according to their myofibrillar ATPase activity. Type I fiber mean diameter was at the lower limit of the normal values, and type II fibers were larger than normal. Their father's biopsy also showed an abnormal smallness of the type I fibers, with a bimodal distribution. By electron microscopy, the small type I fibers did not reveal any significant abnormality in children's biopsies. In father's biopsy, there was an abnormal degree of filamentary interchange between contiguous myofibrils and a few stacks of rods in the type I fibers. These three cases demonstrate the familiar character of the disorder. The relationship of this new entity with the other congenital myopathies is controversial, as a similar congenital fiber type disproportion, has been found in association with different ultrastructural changes. Several data favour an insufficient development of the type I fibers rather than an atrophying process. The mechanism of this "hypotrophy" remains unknown.
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PMID:[Congenital desproportion of various types of muscle fiber, with relative small size of type I fibers. Morphological documents on muscle biopsies in 3 members of the same family]. 13 Jun 71

In more than 1,000 radiological and endoscopic examinations of the smooth muscle hollow organs of the upper intestinal tract, crysalline glucagon (0.2 to 0.5 mg., average dose 1 u/kg. body weight given at a single intravenous injection) resulted in a significant relaxation and reduction of peristalsis. This effect was less marked in the colon and recto-sigmoid. In five patients with colonic diverticulosis it had no effect. In 150 patients it was found that the onset of hypotonia after injection of glucagon increases from proximal to distal, the duration of maximal reduction in peristalsis decreasing distally. Glucagon is indicated for reducing the tone of smooth muscle hollow organs in order to judge their elasticity and to distinguish between functional and organic causes of a stenosis or increased size of folds. The rapid onset of peristaltic inhibition makes various diagnostic and therapeutic endoscopic procedures simpler or even possible. Compared with the usual atropin-like antispasmodics, glucagon has the advantage of being free from side effects apart from transient hyperglycaemia. Diabetes mellitus requiring insulin is a (relative) contra-indication to the use of glucagon.
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PMID:[The use glucagon for endoscopic and radiological examination of the gastrointestinal tract (author's transl)]. 13 38

A method for tubeless, double-contrast examination of the small bowel is described. Oral contrast medium and capsules which effervesce in the small bowel resulted in double-contrast demonstration of the small bowel in 90 out of 130 patients. Transit through the small bowel was reduced to an average of 78 minutes, due to increased peristalsis resulting from distension by the intralumental gas. For comparison, average transit time in a control group of 83 patients was found to be 126 minutes. The differential diagnosis of stenosing processes and additional information concerning space-occupying lesions was furthered by small bowel hypotonia induced by the intravenous injection of 15 to 45 mg. propantheline bromide (Probanthine) or 1 to 2 mg. glucagon. The method has the following advantages: 1. Improved demonstration of detailed mucosal pattern, 2. Reduced examination time and 3. Simultaneous visualisation of the entire small bowel.
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PMID:[Double-contrast examination of the small bowel without intubation (author's transl)]. 13 39

A review has been made of Down's syndrome patients who were radiographed as fetuses and the majority were found to be in abnormal postures, often "star gazing". Further review of "star gazing" fetuses showed that two of eight were normal and the rest were abnormal. Hypotonia was a frequent association.
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PMID:Fetal cervical hypertension in breech presentation. 13 92

Muscle tone develops in a orderly sequence through gestation and continues to change after birth. Hypotonia is frequently found in infants, and pathological degrees must be differentiated from normal variations. This distinction is possible if the clinician understands how muscle tone is regulated and modifies his examination to include some special clinical signs. A variety of pathological conditions can influence muscle tone, and hypotonia can be an early and valuable clue to recognizing neuromuscular, CNS, metabolic, and other disease states in this age group.
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PMID:Understanding the floppy baby. 14 21

Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both trisomic for 12p(ter leads to 12.1) and monosomic for 21p. Their mother (No. 5), the maternal grandmother (No. 7), aunt (No. 8), and a first-cousin (No. 9) were balanced translocation carriers, 46 rep (12;21) (p12.1;p11). Another cousin (No. 10) had Down syndrome: he had two normal 21 chromosomes in addition to both translocation chromosomes. A sister (No. 2), who died at the age of 1 year without being karyotyped, had several phenotypical features in common with her brothers. Our two cases of trisomy 12p (ter leads to 12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; "spade"-shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics. An elevated serum lactate dehydrogenase (LDH) was measured in four cases.
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PMID:Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring. 14 83

The authors report the case of an 8 year-old boy who, when he was 2 1/2 years old, suffered from spasmodic mouth twitches. At the age of four, various other symptoms appeared: psychomotor backwardness, frequent fails and a photomyoclonic response on electroencephalogram. At the age of 5 1/2, noticeable difficulties appeared in walking with a broad-based gait, hypotonia, and intentional trembling associated with hypokinesia and dysarthria. When he was six, the first convulsive seizure appeared, then myoclonies which became continuous. The child gradually became bedridden. The family history tends to show these disorders can be linked with a Huntington chorea affecting six generations. This case is very similar to that previously described by the authors, in an 8 year-old girl where an anatomic examination revealed the existence of lesions characteristic of Huntington's disease associated with lesions of the cerebellum. The authors, on the basis of the data provided by the literature, discuss the myoclonic and cerebellous aspect of this infantile form. Lacking anatomic evidence, they stress the interest of the biochemical disturbances affecting the cerebral monoamines noted in this observation.
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PMID:[Myoclonic type of Huntington's chorea (author's transl)]. 14 49


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