Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Serum pyruvate kinase and creatine kinase activities were measured in a group of patients with various neuromuscular diseases and in carriers of muscular dystrophy. Elevated values of PK were usually but not invariably associated with elevated levels of CK. THe data showed that PK activity was elevated in all patients with DMD, high values generally correlating inversely with age or disease duration. In definite carriers, the level of PK was raised simultaneously with CK, while in potential carriers, classified by their relationship with MD patients in mothers, sisters and other relatives, the PK levels were elevated in 23%, 44% and 10% respectively, indicating especially for sisters, an increased genetic probability of being a definite carrier. In this way, we have confirmed that the serum PK assay is more sensitive in younger subjects and that combined CK and PK measurement will be of value in detecting a higher proportion of potential carriers.
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PMID:Serum pyruvate kinase in different neuromuscular diseases and in carriers of muscular dystrophy. 667 40

Within the Campania region of southern Italy a prospective study on X-linked progressive muscular dystrophy was conducted over a period of 12 years from 1969 to 1980, inclusive. The mean incidence rate was 21.7 per 100,000 male livebirths for Duchenne muscular dystrophy (DMD) cases and 3.2 per 100,000 male livebirths for Becker muscular dystrophy (BMD) cases. The familial cases were 38.5% among the DMD patients and 50% among the BMD patients. Myocardial involvement appeared in DMD patients at about 6 years of age in a high percentage of cases and increased progressively until the last years of life, when cardiac damage occurred in 95% of cases. The percentage of myocardial involvement in BMD patients was very low before 13 years of age, but increased progressively until 20 years, when cardiac damage occurred in 80% of cases studied; severe cardiomyopathy did not occur before the age of 21. The data reported also include the effects of age on physical performance, serum creatine kinase activity and serum myoglobin levels, the types of cardiac damage, and the causes of death.
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PMID:Prospective study of X-linked progressive muscular dystrophy in Campania. 668 57

Serum muscle-specific enolase ( MSE , beta beta and alpha beta enolases) levels were determined in 162 patients with progressive muscular dystrophy (PMD) and other neuromuscular diseases by means of an enzyme immunoassay method. The relationships were examined between serum MSE , creatine kinase (CK) and other markers of muscle disease. Serum MSE was strikingly increased in Duchenne muscular dystrophy, and this elevation was more prominent in younger patients. Serum MSE was also increased in other types of PMD and certain other diseases. Serum MSE showed the highest correlation with CK. In the PMD group, the frequency of cases with elevated MSE was the same as in CK. These results indicated that serum MSE may well be a specific marker of muscle disease on a par with CK.
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PMID:Serum muscle-specific enolase in progressive muscular dystrophy and other neuromuscular diseases. 672 77

In extracts derived from whole blood, a high molecular weight fraction of the diphenoloxidase enzymes has a significantly diminished specific activity in patients and definite carriers (heterozygotes) of the X-linked, recessive (Duchenne) form of muscular dystrophy. This anomaly was studied using spots of blood which had been collected on absorbent paper and stored at 4 degrees C for variable periods of time. Fractions enriched in the enzymes were obtained by subjecting aqueous extracts of the spots to treatment with an anion exchange resin (DEAE Sephadex A 50) followed by gel filtration on Sephadex G-25. It is of interest that this anomaly was observed in some definite carriers of the mutant gene who had on several occasions a serum creatine kinase level in the normal range. The significance of these observations is discussed.
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PMID:Diphenoloxidases in X-linked recessive (Duchenne) muscular dystrophy. 679 86

Chicks affected with hereditary muscular dystrophy were deprived of water for 1 to 4 days at ages to 37 days ex ovo. Water deprivation partially alleviated impaired righting ability and reduced the typically elevated plasma creatine kinase activity by as much as 90%. Muscles from water-deprived chicks showed several qualitative histologic improvements, including decreased sarcoplasmic staining for acetylcholinesterase activity, reduced fiber diameters, and a decreased incidence of abnormally large rounded fibers, but retained the high degree of fiber diameter variability characteristic of dystrophic muscles. Feed deprivation reduced body weight to a similar extent as water deprivation but had lesser effects on creatine kinase activity and did not improve righting ability or muscle histology. Although the mechanism of the improvements is unknown, the magnitude and scope of the effects suggest that water deprivation beneficially alters a major abnormality in dystrophic chickens.
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PMID:Water deprivation: beneficial effect on muscular dystrophy in chickens. 682 62

Neonatal screening for Duchenne-type muscular dystrophy is greatly simplified by use of a new bioluminescence procedure for creatine kinase. The blood of newborn myopathic children consistently showed increased activity. The improved method permits the analysis from a dried sample of whole blood spotted on filter paper; it shows high correlation with existing procedures and is highly specific and precise. The use of the improved method in a screening program involving 158 000 newborns is reviewed. We find a prevalence of 1/5929 living eighth-day boys.
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PMID:Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper. 684 55

An extended kindred in the Sudan, where a severe muscular dystrophy has been interpreted as of autosomal recessive inheritance, has been further analysed. The within-sibship ratio, the autosomal and X-linked inbreeding coefficients, and the creatine kinase levels suggest a possible alternative interpretation: X-linked muscular dystrophy with failure of clinical expression in some males.
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PMID:Reflections on muscular dystrophy in a Sudanese kindred. 685 Dec 25

Chickens with inherited muscular dystrophy (Line 413) were treated in two separate trials with daily intraperitoneal injections of 10% DMSO-water solutions containing the proteinase inhibitors, Ep475 and E64. Drug therapy in each case significantly prolonged the functional ability of the treated chickens. Diluent control chickens around day 35 ex ovo characteristically reached a maximum ability to right from the supine position in a standardized functional test for muscle weakness. Subsequently, the control chickens were found to decline progressively in their ability to right. Treatment with the proteinase inhibitors had no effect on the typically elevated levels of plasma creatine kinase activity. In a histological analysis of the affected pectoralis major muscle, drug treatment had no effect on the relative distribution of degenerating, and vacuolated fibers, inflammatory cells, and abnormal fiber diameters. An exception was seen in decreased necrotic fibers of chickens treated with high doses of Ep475. Moreover, both inhibitors had positive effects on two biochemical abnormalities common to the dystrophic pectoralis muscle: increase in noncollagen protein, and reduction in total calcium.
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PMID:Limited benefit to genetically dystrophic chickens from a synthetic proteinase inhibitor: Ep475. 687 13

An early and significant biochemical abnormality in Duchenne's muscular dystrophy is an increase in intracellular calcium. We have found that the "calcium-blocker" drug verapamil inhibits calcium-stimulated efflux of creatine kinase (EC 2.7.3.2) and lactate dehydrogenase (EC 1.1.1.27) in vitro from normal human skeletal muscle at therapeutic concentrations. Such a calcium blocker might therefore be useful in the treatment of Duchenne's muscular dystrophy.
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PMID:Verapamil and calcium-stimulated enzyme efflux from skeletal muscle. 708 59

Six brothers aged from 15 months to 13 years with confirmed Duchenne's muscular dystrophy are described. The serum creatine kinase levels ranged from 2420 IU/I in the youngest boy to 769 IU/I in the eldest. The diagnosis of Duchenne's muscular dystrophy was only made when the eldest boy was 13 years old, despite the fact that his parents had sought medical advice when he was 5. The importance of early diagnosis, detection of carriers and neonatal screening is discussed in relation to the prevention of Duchenne's muscular dystrophy.
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PMID:Duchenne's muscular dystrophy in six siblings. The case for early diagnosis and neonatal screening. 713 41


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