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)

Five patients suffering from choreo-athetotic syndromes of different genesis were treated with the benzodiazepine-derivative Ro 06-9098/000 (7-Nitro-1(methylmethoxy)-1,3-dihydro-5-phenyl-2 H-1,4-benzodiazepin-2-one). The existing hyperkinesias could be well influenced in four cases of male patients, sufficiently in one case of a female patient. The sedative effect, accompanied by a muscle hypotonia appearing simultaneously under the medication, did not represent and essential limiting factors at the chosen dose of 5--20 mg/die. The observed successes in therapy point at the result and effect of benzodiazepine derivatives on extra-pyramidalmotoric hyperkinesias which got little attention until now.
Pharmakopsychiatr Neuropsychopharmakol 1977 Sep
PMID:[Influence of the Benzodiazepine-derivative Ro 06-9098/000 on choreo-athetotic syndromes (author's transl)]. 3 Jan 3

A 23-year-old man had slow psychomotor development at 6 months of age and developed intermittent corneal clouding at about 18 months. He developed a truncal ataxia and hypotonia of the limbs combined with spasticity and active deep reflexes that did not progress. His skeleton and facies were normal. Between 1 and 13 years of age, he developed severe optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissue-cultured cells and conjunctiva.
Am J Ophthalmol 1975 Sep
PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 16 96

An 18-year-old girl with von Gierke's disease associated with a lipid storage myopathy is reported. The diagnosis of von Gierke's disease was made from decreased activity in glucose-6-phosphatase in the jejunal biopsy specimen. Neurologically she showed generalized hypotonia of the muscles, atrophy of bilateral proximal muscles of the lower extremities, weakness in neck flexors, deltoid and lumbar girdle muscles, and a positive Gower's sign. Muscle biopsy from flexor femoris muscle revealed fatty deposition in type 1 fibers and atrophy of type 2 fibers and the diagnosis of an accompanying lipid storage myopathy was made. This case also had a ventricular septal defect confirmed by right cardiac catheterization.
J Neurol Sci 1978 Sep
PMID:Lipid storage myopathy in von Gierke's disease: a case report. 21 38

A 9 month old boy with acute lymphoblastic leukaemia developed signs compatible with an extrapyramidal lesion (rough tremor of the skeletal muscles, more pronounced on the left side, with hypotonia and reduced cutaneous reflexes). This problem started 4 days after the second weekly course of chemotherapy with Vincristine (1.5 mg/m2) and Adriamycin (25 mg/m2) and lasted with varying intensity until death 4 weeks later. Toxicity of either drug (or both) to the central nervous system was invoked as a likely explanation and Vincristine was considered to be more likely condidate for that effect.
Biomedicine 1979 Sep
PMID:A Parkinson-like syndrome as side effect of chemotherapy with vincristine and adriamycin in a child with acute leukaemia. 29 57

A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatment (1.8 g/day) was successful in correcting biochemical and clinical symptoms. The mechanism of its action is probably based on activation of pyruvate dehydrogenase through interference in the physiologic regulation.
Agents Actions 1977 Sep
PMID:Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency. 41 46

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.
Pediatrics 1979 Sep
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.
Hum Genet 1979 Sep
PMID:Cytogenetic and clinical studies in five cases of inv dup(15). 48 10

A partial duplication of the distal segment of the long arm of chromosome 5 (q31 leads to qter) was observed in an infant with congenital malformations and dysmorphic features. The phenotypically normal father had a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 9: 46,XY,t(5;9)(q31;p24). The clinical and cytogenetic data obtained from six patients with partial duplications of two different long arm segments of chromosome 5 suggest that partial duplication of the distal long arm of chromosome 5 is associated with microcephaly, hypertelorism, epicanthus, strabismus, large upper lip, low-set, dysplastic ears, in addition to growth and psychomotor retardation. Partial duplication of the proximal part of the long arm of chromosome 5, on the other hand, is associated mainly with musculoskeletal abnormalities including muscle hypotrophy and hypotonia, scoliosis, lordosis, pectus carinatum, cubitus valgus, and genu valgum, in addition to psychomotor retardation. The dysmorphic features in this latter group include a bulging forehead, short nose, thick upper lip, low-set protruding ears and tapering, thin fingers.
Hum Genet 1979 Sep 02
PMID:Partial duplication of the long arm of chromosome 5: a case due to balanced paternal translocation and review of the literature. 50 89

Two neonates showing generalized hypotonia, weakness of limbs, trunk, and oral musculature died because of muscular respiratory distress. The diagnosis of centronuclear (or myotubular) myopathy was established by histological and histochemical techniques. The genetic situation and routine laboratory data including electromyography were compared with similar cases in the literature; findings were inconclusive with respect to this diagnosis. These results indicate the need for a muscle biopsy and the use of histochemical stainings and/or electronmicroscopical investigation for a proper diagnosis in hypotonic newborns under respiratory distress after exclusion of etiologies other than neuromuscular diseases. Still the diagnosis of centronuclear myopathy in a neonate does not allow a precise prognosis. Increased awareness of this disorder and adequate diagnostic workup is needed in order to extend our understanding and to clarify the prognosis.
Acta Paediatr Scand 1979 Sep
PMID:Neonatal respiratory insufficiency due to centronuclear myopathy. 52 48

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.
Monatsschr Kinderheilkd 1977 Sep
PMID:[The 18p-syndrome (author's transl)]. 56 86


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