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)

Signs of neonatal neurologic dysfunction, recorded in approximately 40,000 infants, were evaluated prospectively for their ability to predict later motor handicap. Tenfold to 33-fold increases in risk of cerebral palsy (CP) were observed in surviving children with any one of the following characteristics: birth weight less than 2,000 gm, head circumference more than 3 SD above or below the mean, five minute Apgar score of 3 or less, diminished activity or diminished cry lasting for more than one day, thermal instability, need for gavage feeding, hypotonia or hypertonia, single or multiple apneic episodes, or hematocrit less than 40%. Of worse portent, with relative risks exceeding 50, were neonatal seizures or Apgar scores of 3 or less at ten minutes or later. These characteristics were also markers of considerable risk of early death. For 0.5% of surviving infants, an overall impression of abnormality of brain function during the nursery period was recorded by the attending physician; there was a 99-fold increase in CP among these children.
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PMID:Neonatal signs as predictors of cerebral palsy. 47 12

We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.
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PMID:The Johanson-Blizzard syndrome: case report and autopsy findings. 47 25

As part of the Sudden Death Research Project at Stanford University School of Medicine, we have performed systematic neurologic examination of 41 near miss infants, 7 normal siblings of babies who died a sudden infant death, and 21 normal control infants. Many infants were examined longitudinally until 2 years of age. We found that near miss infants under 3 months of age had consistent abnormalities of muscle tone, particularly shoulder hypotonia. These abnormalities disappeared with maturation, but only 60% of older infants who had suffered near miss episodes of neurologically and developmentally normal. In addition, only one of the seven apparently normal siblings had an entirely normal neurologic examination when first seen. Thus, infants who present with near miss episodes may have an underlying central nervous system abnormality or may acquire some abnormality as a result of the episode.
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PMID:Neurologic abnormalities in near miss for sudden infant death syndrome infants. 48 82

Inv dup(15) is a clinically significant bisatellited derivative of chromosome 15. Five unrelated patients with this abnormality are described and compared with ten confirmed and nine suspected cases in the literature. Mental and developmental retardation, hypotonia, behavioral disturbances, seizures, abnormal dermatoglyphics, and mild somatic anomalies were the most consistent findings. The extra chromosomes in our patients were identified with the aid of various techniques, including distamycin A/DAPI banding. A comparison of satellite polymorphisms suggested that the rearrangements frequently arose by meiotic nonsister chromatid exchange and second-division nondisjunction. A maternal origin was indicated in two cases, and parental ages were distinctly elevated.
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PMID:Cytogenetic and clinical studies in five cases of inv dup(15). 48 10

Abnormal head movements have been studied in a variety of diseases using objective recording techniques and the data analysed with respect to the frequency content of the movement. Flopping, nodding, tic, chorea, myoclonic jerks, and most head tremors involve frequencies of approximately 2 and 4 Hz which correspond to the natural fundamental and second harmonic resonances of the head as determined by the mechanical properties of the head/neck system. These findings provide a basis for classification of abnormal head movements as well as an explanation of the characteristics of those arising from hypotonia of the neck muscles. The similarities between tremor frequencies and natural resonances suggest that in the case of the head, tremor arises from disorders of neural mechanisms normally responsible for the fine control of voluntary head movement and for stabilisation of the head during disturbance of posture. Head movements in cases of congenital nystagmus were found to be of two types. Some were of bizarre waveform, in no way assisted vision, and were taken to be of primarily pathological origin and classified as tremors. Others were learned adaptive responses which assisted vision either by interrupting the nystagmus, as in the case of spasmus nutans, or by compensating for the nystagmus with an inverse waveform and were called nodding. A prerequisite for true compensatory nodding is modified vestibulo-ocular reflex.
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PMID:Abnormal head movements. 49 Jan 76

Standard values of the intraocular pressure, as an average result of mass examinations, need not be valid in the actual case. So the upper limit of the intraocular pressure for a hypertonic patient may be higher than in persons with arterial hypotonia. In order to achieve an individual approach A. M. Vodovozov introduced in 1975 the notion of tolerable intraocular pressure (Ptl) which may be determined by means of campimetry and perimetry, or using hemodynamic and electrophysiological methods. Here the campimetric method of determining the individually tolerable intraocular pressure (Ptl) is described. The size of the blind spot (namely the vertical diameter) and the pertinent intraocular pressure are measured several times (every half an hour), in the course of which the effect of an oral dose of glycerol combined with ascorbic acid is observed. That tonometric value which coincides with the minimal size of the blind spot is considered as the individually tolerable level of intraocular pressure. The campimetric investigation of 98 eyes in 52 glaucomatous patients showed that the tolerable intraocular pressure may be above as well as below the standard. This aids in ordering the appropriate treatment and in preventing the loss of ocular function in glaucomatous patients.
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PMID:[The campimetric method for measuring the individually tolerated intraocular pressure (Ptl) in glaucoma (author's transl)]. 49 61

We report four cases of congenital muscular dystrophy; all demonstrated hypotonia and multiple contractures at birth. Strength remained stationary or improved, but the tendency for contracture formation persisted. Brief small amplitude polyphasic potentials were recorded on electromyography, and muscle biopsy revealed extensive fat and/or collagen replacement, which was out of proportion to fiber necrosis or patient strength. The consistent clinical and pathologic features of these patients and others described in the literature justify considering this disorder to be a specific nosologic entity.
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PMID:Congenital muscular dystrophy: case reports and reappraisal. 49 11

In four previously reported patients with partial 3q trisomy, only a small portion of 3q was trisomic (3q21 leads to qter or 3q25 leads to qter). Clinical features in these cases have included the following: low-set ears, mongoloid slant of eyes, hypertelorism, cleft palate, webbed neck, simian creases, short finger, clinodactyly, hypotonia, and low-set hairline. Cytogenetic studies of a premature, 1,680-g female infant with with these clinical features showed this extra material to be part of the long arm of chromosome 3 (3q12 leads qter), which resulted in partial trisomy for this segment, ie, 46,XX,-18, +t (3;18) (q12;p11). Although a larger portion of 3q was involved in this case, the clinical picture was similar to other cases of 3q duplication with or without 3p deletion.
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PMID:Partial trisomy of chromosome 3 (3q12 leads to qter) owing to 3q/18p translocation. A trisomy 3q syndrome. 49 88

The following report of our experience using isobaric Bupivacaine 0.5% in 6,228 operations (intrathecal technique) will consider the intra operative period. In 55.8% of cases the lower extremities were operated upon and in 44.2% the lower abdomen. In 1,487 cases (23.9%) side effects/complications were evident and a classification of such is as follows: anaesthetic technique 5.29%, cardiorespiratory 15.69%, operator/operative technique 6.13%. The percentage remained relatively constant irrespective of age but a higher pre op risk classification (A.S.A. System) resulted in a marked increase in the above figures. The principal side effects encountered were as follows: Bradycardia 7.5%, hypotonia 6.3%, insufficient analgesia 3.9%, extrasystoles 2.9%. Grave complications occured in 0.15% and within this group 4 patients died intraoperatively; a relationship with the mode of anaesthesia has not been proven.
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PMID:[Spinal anaesthesia using bupivacain--clinical experience of more than 6000 cases (author's transl)]. 49 24

During selective screening for organic acidurias, a 10-week-old girl with muscular hypotonia and recurrent fits was shown to be excreting 3-methylcrotonylglycin and 3-hydroxyisovaleric acid. Besides these metabolites of leucine the presence of small but pathological amounts of propionic and methylcitric acids were demonstrable in her urine, pointing to a defect in the metabolism of biotin. On treatment with biotin (2 x 5 mg/day) the convulsions stopped at once, her clinical condition improved gradually, and the abnormal metabolites disappeared from the urine. Within 6 weeks the child was discharged in a good general condition without apparent signs of neurological damage.
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PMID:A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria. 49 58


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