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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

For determination of the age of onset and the age of immobilization in Duchenne's progressive muscular dystrophy the motor development was studied in 129 affected children. It was demonstrated that motor development was delayed and abnormal in 58% of the cases. On the average the affected children started to walk in the 19th month of life. According to the history data in 83% of the cases the age of onset of the disease was 1 year; in 10% of the cases the onset was placed before and in 7% after the 5th year of life. It was observed that earlier age of onset was not associated with a more rapid development of the disease and independently of the onset the age of immobilization was about 10 years. The results of investigation were compared with reports in the literature.
Neurol Neurochir Pol
PMID:[Motor development in children with muscular dystrophy of the Duchenne type]. 60 Mar 45

In 200 patients with neuromuscular diseases the author studied malonic dehydrogenase and lactic dehydrogenase activity comparing it with the activity of serum creatine kinase and aldolase. A significant rise in the values of all these enzymes was found only in the Duchenne type of muscular dystrophy, in polymyositis, and less frequently in the limb-girdle type of muscular dystrophy. Raised activity of creatine kinase and sidolase was observed in mothers and sisters of patients with Duchenne type of dystrophy, in patients with non-progressive myopathy, periodic paralysis, amyotrophic lateral sclerosis and polyneuropathy. With progression of dystrophy the activity of these enzymes decreases.
Neurol Neurochir Pol
PMID:[Serum enzymatic activity in neuromuscular diseases]. 112 44

On the basis of the cases registered in the Outpatient Clinic for Muscular Diseases, Medical Academy in Warsaw including patients with progressive muscular dystrophy, and after an analysis of follow-up data the epidemiological indices and mutation indices were estimated in the population of Warsaw, Province of Warsaw and Province of Radom for the years 1960-1976. The calculated indices of incidence and prevalence of dystrophy and mutation were at the upper range of values reported in world literature. They were, however higher than those estimated in previous years in the same regions by Prot. The calculated index of natural abortions in mothers of patients with Duchenne's dystrophy was slightly higher than in the control group of women. Follow-up investigations show that the genetic counselling in this disease was insufficient in that time period.
Neurol Neurochir Pol
PMID:[Epidemiology of progressive muscular dystrophy in selected regions of Poland]. 383 91

The authors studied the composition of isoenzymes of malic dehydrogenase in peripheral blood leucocytes of patients with Duchenne-type progressive muscular dystrophy, their mothers and sisters, and also in other primary muscular diseases. The studied group included 25 patients with Duchenne dystrophy, 20 their mothers and sisters, and 11 patients with other primary muscular diseases. The control group comprised 10 healthy subjects aged 19-40 years. Sporadically a decrease was observed of total activity and of the amount of the mitochondrial isoenzyme of MDH in Duchenne dystrophy. In one case the m-MDH isoenzyme was completely absent, this patient had most advanced disease. In the mothers of patients decreased MDH activity occurred rarely (once in 13 mothers) and the pattern of MDH isoenzymes was normal, similarly as in sisters of these patients. In other primary muscular diseases no abnormalities were found.
Neurol Neurochir Pol
PMID:[Malate dehydrogenase and its isoenzymes in the peripheral blood leukocytes in progressive muscular dystrophy of the Duchenne type]. 409 44

The activity of enzymes participating mainly in oxidative processes taking place in peripheral blood leucocytes was determined: malic dehydrogenase, glycerophosphate oxidase, and mitochondrial ATP-ase. The investigations were carried out in 29 patients with Duchenne type of muscular dystrophy, their 23 mothers, 4 sisters, and in 14 cases of other muscular dystrophies, and 4 patients with spinal muscular atrophy as well as in controls. Changes were found in the activity of these enzymes, particularly malic dehydrogenase in patients with Duchenne type of dystrophy and in some carriers of this disease.
Neurol Neurochir Pol
PMID:[Usefulness of determination of various leukocyte enzymes in progressive muscular dystrophy]. 645 75

On the basis of the clinical material of the Department of Neurology, Medical Academy in Warsaw the author discusses the bioelectric characteristics of infantile and juvenile spinal muscular atrophy. Attention is called to the specific character of resting firing units in infantile type. On the background of a neurogenic damage pattern the so called "spinal" features of the electromyogram are much more pronounced in the juvenile form of the disease. Motor fibre velocity in small children in the so called group I achieves normal values for a given age later than in healthy children, in long-standing cases of the juvenile form the minimal velocity may be decreased or the conduction velocity may be uniform at the level of the normal maximal velocity. The value of electromyography in the separation of Werdnig-Hoffmann disease from the group of the so called floppy children, and in the differential diagnosis between juvenile spinal muscular atrophy (mainly Kugelberg-Welander disease) and muscular dystrophy is emphasized.
Neurol Neurochir Pol
PMID:[Bioelectric characteristics of spinal muscular atrophy]. 663 94

The authors report a case of pseudohypertrophic muscular dystrophy of bening course. Histological examinations of muscle biopsy and electromyography were found to be of particular usefulness for establishing the diagnosis of this fairly rare type of myopathy isolated recently as Becker's type.
Neurol Neurochir Pol 1980
PMID:[Case of pseudohypertrophic progressive muscular dystrophy of Becker's type]. 745 32

The activities of cytoplasmic and mitochondrial aspartate aminotransferase isoforms in serum in 20 outpatients with Duchenne's progressive muscular dystrophy and seven carriers of the gene of that disease were determined. The control group consisted of 19 patients with other neuromuscular disorders. Twenty, age-matched healthy persons comprised the normal control group. The activity of the cytoplasmic isoform was increased in 85% of Duchenne's dystrophy cases. In these cases the reaction of the cytoplasmic isoenzyme in the presence of pyridoxal 5'-phosphate was abnormal. In the remaining Duchenne's dystrophy cases normal activity of this isoform and normal stimulation to pyridoxal 5'-phosphate was found. The mitochondrial isoform was significantly increased in 30% of Duchenne's dystrophy cases. In all Duchenne's dystrophy patients the reaction of the mitochondrial isoenzyme to supplementation with pyridoxal 5'-phosphate was normal. We conclude that the evaluation of aspartate aminotransferase isoforms in serum in Duchenne's dystrophy can be of clinical importance, especially in evaluating the degree of muscle cell damage.
Mater Med Pol
PMID:Serum cytoplasmic and mitochondrial aspartate aminotransferase in Duchenne's progressive muscular dystrophy. 760 78

Three children with a diagnosis of congenital muscular dystrophy are described. Because of the heterogeneity of these disorders the authors stress the necessity of differentiation with other causes of "floppy infant" syndrome, especially with Werdnig-Hoffmann disease, structural myopathies, and Duchenne progressive muscular dystrophy. An extensive hypodense area on brain CT scan was found in one child.
Pediatr Pol 1995 Jan
PMID:[Diagnostic problems of congenital muscular dystrophies in children]. 762 73

Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of dystrophies in which weakness and wasting initially appear at proximal groups of pelvic and shoulder girdles. Families in which LGMD is inherited as an autosomal recessive and rarely autosomal dominant trait were separated. Among autosomal recessive families, cases with rapid progression, called severe childhood autosomal recessive muscular dystrophy (SCARMD) were isolated. In some of these families linkage to chromosome 13 has been demonstrated. In other families especially those with relatively slower progression the genes were localised on chromosomes 2, 15. In families with adhalin mutations variability of clinical presentation is observed. In one of the described families with autosomal dominant inheritance the linkage to chromosome 5 has been established. Clinical and genetic studies of a large cohort of patients with limb-girdle muscular dystrophies enables the creation of new LGMD diagnostic criteria which facilitates proper genetic counselling.
Neurol Neurochir Pol
PMID:[Clinical and genetic heterogeneity of limb-girdle muscular dystrophy]. 854 36


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