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)

Notwithstanding the legalization of abortions because of social indications, acute renal insufficiency after septic and criminal abortions still constitutes a high percentage of cases to be treated in the dialysis department. This article reports on 26 cases of acute renal insufficiency after criminal or septic abortions and on their complications. All cases were characterized by a marked hyperthermia for 2-4 days, marked hyperleucocystosis, early onset of anemia with intravascualr hemolysis and protracted hypotonia. Early introduction of exchange blood transfusion decreased the signs of anemia and stopped the development of intravascular hemolysis, but did not change in any significant way the course of acute renal insufficiency. In the study presented here, 4 women deceased within 2-3 hours after admission; in conclusion, treatment was unsuccessful in 16 cases, and lethal exit occurred in 10 cases. Treatment was successful in 5 out of 14 cases after criminal abortion, and in 11 cases after septic abortion. Better results were observed in those patients where the proper diuretic therapy and exchange blood transfusions or dialysis were undertaken in the first 3 days after abortion. That is why it is recommended to transfer patients with acute renal insufficiency subsequent to criminal or septic abortion to the dialysis department in the first 24 to 48 hours after abortion. (Author's modified)
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PMID:[Acute renal insufficiency after criminal and septic abortion]. 54 51

An unique myopathy described by Ullrich in 1930 was reported in a 4-year-old Japanese boy. Major clinical findings included proximal joint contracture, muscle hypotonia, prominent calcaneus, high-arched palate, and normal intelli gence. Muscle biopsy showed rather small muscle fivers with variations in size and proliferation of connective tissue. A review of 15 cases in the literature revealed this type of myopathy as a distinctive entity to be classified as a myopathic arthrogryposis multiplex congenita, rather than in the group of muscular dystrophies.
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PMID:A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie). 55 39

In order to ascertain what can develop from cerebral infantile hypotonia, 98 infants suffering from hypotonic forms of cerebral palsy were reexamined after one year and some of them again after another year. It was presumed that hypotonia in infants with so-called hypotonic cerebral palsy is a sign which changes with time. In the ages between 2-4 years 50.2% of the hypotonias decreased and new syndromes appeared. In the ages up to 4-6 years, there was a decrease in 85.7% of hypotonias. The new syndromes were cerebellar in 56 cases, mental defectivity with developmental disintegration in 31 cases, and there were 26 without any cerebral symptomatology. Apart from these two main semeiological groups, there were spastic and dyskinetie syndromes, mostly combined with the cerebellar or mental group, and minor brain, mostly cerebellar, disturbances which developed out of infantile central hypotonias.
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PMID:Follow-up study of hypotonic forms of cerebral palsy. 55 15

In intact or decerebrate pigeons, unilateral functional deafferentation of the dorsal neck muscles of one side produced a postural asymmetry, characterized by an increase in flexor tonus of the ipsilateral wing and leg and an increase in extensor tonus of the contralateral limbs. This postural asymmetry was just opposite in sign to that described recently in cats, where unilateral section of the cervical dorsal roots C1-C3 produced ipsilateral hypertonia and contralateral hypotonia of the limb extensors. The striking increase in flexor tonus of the wing following deafferentation of the ipsilateral neck extensors contrasts with the decrease in flexor tonus of the wing which occurs after deafferentation of the ipsilateral leg extensors. It appears, therefore, that the proprioceptive input from the neck and that from the leg extensors exert an antagonistic influence on the flexor tonus of the ipsilateral wing.
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PMID:[Changes of postural tonus produced by unilateral deafferentation of the musculature of the neck in pigeons]. 55 35

Two cases of Morvan's chorea are reported. One of the patients presented the characteristic of having had two attacks, the first after organic mercury preparations, and the second after gold salts for inflammatory rheumatism. The second case had facial fibrillations only, and this was followed by a regressive polyradiculoneuritis one month later. This latter case raises certain diagnostic problems. The existence of a particular type of immuno-allergic tendency could be validly related to a triggering effect of various etiological agents (metals such as mercury or gold salts, or infective agents). The absence of hypotonia, and a regressive course appear to be the characteristics that distinguish fibrillary chorea from the continuous activity syndrome of the muscle fibers described by Isaacs.
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PMID:[Morvan's fibrillary chorea]. 55 22

Two mentally retarded brothers with partial trisomy 3q show clinically similar malformations and deformities : dwarfism, bushy eyebrows, eversion of the nostrils, low inserted ears, high palate, microgeny, low hair insertion, short and broad hands with proximally inserted thumbs, clinodactylia of the 5th finger, syndactylies, mostly arch patterns on the digital pulps, muscular hypotonia, joint relaxation and cryptorchism. Both children had fits of convulsions. The younger boy showed, moreover, a perception deafness. The mother, the maternal grand-mother as well as the phenotypically normal sister of the patients revealed a balanced translocation 3/22 with a karyotype : 46,XX,t(3;22) (q25;p11).
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PMID:[Familial translocation 3/22 MAT with partial trisomy 3q (author's transl)]. 55 38

Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.
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PMID:[The 18p-syndrome (author's transl)]. 56 86

An infant born with marked hypotonia showed prompt regression of skeletal muscle weakness, but by 7 weeks of age had total external ophthalmoplegia. Biopsy of the gluteus muscle at 14 days showed marked variation in fiber size with a large proportion of very small fibers (less than 3 mu). By 10 months of age, biopsy of the vastus was virtually normal. The inferior oblique muscle was replaced by fibrous tissue containing a few remaining degenerating fibers. The child was normal at 2 years of age except for mild facial weakness and ophthalmoplegia. This syndrome may be the result of a reversible intrauterine process.
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PMID:Neonatal ophthalmoplegia with microfibers: a reversible myopathy? 56 12

We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X-linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.
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PMID:The FG syndrome: further characterization, report of a third family, and of a sporadic case. 56 38

Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome No. 22. The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post-natal growth retardation, mental retardation with further severe deterioration at 3-5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low-set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.
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PMID:Complete trisomy 22. 56 44


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