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

165 prenatal cytogenetic analyses are reported. The culture and Giemsa or quinacrine mustard (QM) staining processes are described. Karyotypes from both Giemsa and QM metaphases were analyzed. The main indications for amniocentesis were: 1)previous child with Down's syndrome (65), 2)advanced maternal age (74), 3)D/G carrier (5), 4)Duchenne muscular dystrophy (5) or 6)previous indication of other chromosomal anomaly. In the advanced maternal age group, 4 G21 and 1 E18 trisomy fetuses were detected. No chromosomal abnormalities were seen in the group referred for a previous child with Down's syndrome, although one woman was found to have a 9/13 translocation herself. Another woman with 13/14 translocation gave birth to a healthy boy with a 13/14 translocation, as predicted. Of 5 women referred for D/G translocation carriers, 1 had a fetus with a 46, X,Y,-D + t(DqGq) karyotype. Sex determination for X-linked anomalies resulted in detection of 2 Duchenne's muscular dystrophy, 1 hemophilia, 1 Norrie's syndrome, and 1 Pelizaeus-Merzbacher's syndrome.
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PMID:Prenatal cytogenetic analysis of women with high risk for genetic disorders. 427 31

An automated method of quantitating small electromyographic changes, based on the ratio of action potential duration to the number of phases per potential, was applied to carriers of X-linked Duchenne type muscular dystrophy. The ratio was found to be significantly raised in a proportion of these cases.
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PMID:Quantitative electromyography: carrier detection in Duchenne type muscular dystrophy using a new automatic technique. 464 57

Many women who seek amniocentesis will subsequently seek an abortion if an abnormality is found, yet it does not necessarily follow that such abortions are the only social consequences of the procedure. A survey of genetics centers in North America provides strong indirect evidence that, for many women, the test offers reassurance and encourages the continuation of pregnancy. Many women in the United States have sought an abortion because such diagnosis was unavailable to them or because the results were inconclusive. Many of the latter had a low risk (under 2%) of having a defective child. The 117 genetics centers responding (out of 152 in a national directory) reported 67 women who chose abortion because prenatal diagnosis was not available or practical. The number of abortions reported because of unavailability of prenatal diagnosis is a least estimate and does not include male fetuses detected prenatally in carriers of X-linked conditions such as hemophilia or muscular dystrophy. In addition, genetic centers and laboratories could only report cases that came to their attention, not women who many have aborted after their obstetricians or other physicians told them that no test was available. Some women choose abortion rather than run a very small increased risk of having a child with an abnormality. On the basis of the survey results it is believed that of the many women who agree to amniocentesis and for whom there are normal findings, a significant number would have chosen abortion in the absence of the reassurance provided by the normal results.
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PMID:Abortions because of unavailability of prenatal diagnosis. 611 15

The existence of linkage has been investigated between the Xg blood group system, two DNA restriction fragment length polymorphisms (RFLPs) located on the short arm of the X chromosome, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). No linkage was found between the Xg locus and the more proximal RFLP (L 1.28); close linkage between Xg and the more distal RFLP (lambda RC8) was also excluded. Both RFLPs show linkage with DMD but are not closely linked with each other. Analyses of 11 families with DMD and ten with BMD, informative for the Xg blood group, reinforce the conclusions of others that there is no measurable linkage between the loci for Xg and for the X-linked forms of muscular dystrophy.
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PMID:Genetic linkage relationship between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy. 631 39

The electro-, phonomechano- and echocardiographic manifestations observed in a family with documented X-linked Becker-type muscular dystrophy (BMD) are described. Important myocardial dystrophic lesions may occur in young patients with BMD. They are associated with typical electrocardiological findings which were described as a distinctive pattern in Duchenne-type muscular dystrophy. Myocardial involvement is seldom observed in heterozygotes for BMD.
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PMID:Cardiac manifestations of Becker-type muscular dystrophy. 660 25

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

Duchenne's muscular dystrophy is inherited as a recessive X-linked trait: Even-though it rarely appears in females it can be seen. We have examined 5 children of one family. Two boys and one girl showed typical symptoms and clinical as well as light- and electronmicroscopical findings of this disease. In order to understand the mode of the genetic pattern, we have analysed the chromosomes, proved the fatherhood and assured the increased Ca-pooling in non-necrotic muscle fibers; in vitro-examinations of the amino-acid-incorporation in ribosomes and of the synthesis of collagen in muscular cells were done as well. Evaluating all of the results, the inheritance must be X-linked recessive and the girl, with high incidence, is a so called "manifesting carrier". The explanation offers Lyons hypothesis, which suggests that in most of the girl's muscle cells the X-Chromosomes, inherited from the mother, are active and lead to the manifestation of the illness. Consequences in advising the family genetically must be taken.
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PMID:[Duchenne's muscular dystrophy: also in girls?]. 671 41

Twelve girls and 2 boys with severe but not congenital muscular dystrophy were found in a national survey. An autosomal recessive gene is likely to account for most if not all of these cases. The condition differs slightly from X-linked Duchenne muscular dystrophy in showing prominent early toe-walking, a milder course, relatively more weakness of the deltoid muscles, normal intelligence, a normal ECG and a more focal pattern of muscle pathology.
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PMID:Severe muscular dystrophy in girls. 673 6

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

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


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