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

The authors describe an unique case of progressive muscular dystrophy in four brothers T. The disease was peculiar in its debut in adolescence, localization of muscular atrophies in proximal limbs, pseudohypertrophy of various muscular groups, malignant course of the myodystrophy with concomitant endocrine and metabolic disorders. A primarily muscular nature of the disease was confirmed in electrophysiological and pathological investigation. X-linked recessive inheritance of the progressive muscular dystrophy was supposed in T family. The issues of differential diagnosis, clinical polymorphism and genetical heterogeneity of X-linked recessive progressive muscular dystrophies are discussed.
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PMID:[Pseudohypertrophic proximal progressive muscular dystrophy with a malignant course manifesting itself in adolescence]. 272 33

DNA samples from nine previously reported patients with X-linked recessive glycerol kinase deficiency, associated in seven of them with adrenal hypoplasia and in five with developmental delay and myopathy, have been studied for deletions of the Duchenne/Becker muscular dystrophy gene by probing with the entire cDNA for the dystrophin protein. All five patients with myopathy, including two in whom no deletions had been detected before, were found to have variable-sized deletions extending through the 3' end of this gene. The 5' deletion breakpoints are intragenic in four cases and have been mapped precisely on the exon-containing HindIII fragment map. A correlation was found between severity and progression of the muscular dystrophy phenotype and the sizes of the gene deletions. In cases in which there was glycerol kinase deficiency/adrenal hypoplasia microdeletion syndrome without myopathy, no deletions were found with the dystrophin cDNA.
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PMID:Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. 284 Aug 18

Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH) and developmental delay with or without congenital dystrophic myopathy. Several such patients have recently been reported to have cytological deletions of chromosome region Xp21 and/or of DNA markers that map near the locus for Duchenne muscular dystrophy (DMD) in band Xp21. We have examined the initial family reported in the literature and, using prometaphase chromosome studies and Southern blot analysis with 13 different DNA probes derived from band Xp21, have found no deletions within this region of the X chromosome. When DNA samples from six other unrelated affected males were analyzed, four of them were found to have different-size deletions within Xp21. Thus, the form of GKD associated with AH and dystrophic myopathy exhibits significant genetic heterogeneity at the DNA level. No deletions were detected in two patients with isolated GK deficiency. Comparison of our molecular studies of unrelated patients with deletions of DNA segments allows us to define the region of Xp21 (between probes J-Bir and L1.4) that most likely contains the genes for GKD and AH. This location is distal to the DMD locus. The patients with progressive muscular dystrophy tended to have larger deletions that include markers known to derive from the DMD locus, while GKD/AH/dystrophic-myopathy patients without current evidence of deletion seemed to have a milder, nonprogressive form of congenital myopathy.
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PMID:Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. 288 86

The genetic basis of muscular dystrophy in golden retriever dogs was investigated by means of experimental matings and cytogenetic studies. An affected male golden retriever was mated to three normal females, producing an F1 generation of six males and 14 females, all of which were clinically normal. Of six F1 females retained for breeding, all were shown to be carriers of muscular dystrophy in outcrosses to unrelated normal male dogs or in backcrosses to the affected male golden retriever. In outcrosses of carrier females, three of seven male and none of nine female offspring were affected, as expected under the X-linked recessive hypothesis. Backcrosses of F1 females to their affected sire also yielded results that are consistent with this hypothesis: 15 of 32 males and 5 of 17 females had muscular dystrophy. Cytogenetic studies of a carrier female, an affected male offspring, and a normal male sibling revealed no detectable abnormalities of the X chromosome.
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PMID:Canine muscular dystrophy: confirmation of X-linked inheritance. 320 49

A young adult male is described with muscular dystrophy of probable X-linked recessive inheritance. An onset of muscle weakness in late adolescence was preceded by contractures of the neck and elbows dating back to childhood. The distribution of muscle weakness was proximal in the upper limbs and both proximal and distal in the lower. The mixed pattern of muscle involvement in the legs favours the view that cases of Emery-Dreifuss muscular dystrophy with proximal weakness in both the upper and lower limbs and X-linked scapuloperoneal muscular dystrophy represent the same disorder. A muscle biopsy in the present case showed unique appearances.
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PMID:Emery-Dreifuss syndrome. 370 78

A 3 1/2-year-old child with progressive muscular dystrophy (PMD) and congenital adrenal hypoplasia (CAH) is described. Symptoms and signs of adrenocortical insufficiency appeared shortly after birth. Despite corticosteroid therapy, the muscular weakness and elevated CK level continued. A diagnosis of Duchenne muscular dystrophy was made on the basis of clinical signs and characteristic muscle biopsy. The affection of his older brother suggests an X-linked recessive inheritance. The autopsy revealed a very rare combination of cytomegalic type CAH and PMD. This combination suggests that a small deletion of X-chromosome might be responsible for the two disorders.
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PMID:Progressive muscular dystrophy with congenital adrenal hypoplasia: an unusual autopsy case. 376 5

A family is described with a neuromuscular disorder characterised by possible X-linked recessive inheritance, a benign, slowly progressive muscular dystrophy with predominant humeroperoneal distribution and lack of contractures or pseudohypertrophy, central nervous system involvement, myopia and lethal cardiomyopathy. The possibility of cardiac transplant as life-saving therapy is suggested.
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PMID:Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy. 380 20

A woman with early-onset, slowly progressive, humeroperoneal muscle weakness had marked restriction of neck flexion with contracture at the elbows. She developed exertional dyspnea at age 25, atrial fibrillation with slow ventricular rate was discovered, and a cardiac pacemaker was implanted. Her father had a similar disorder. There is at least one other report of autosomal dominant transmission of this clinical picture, which had previously only been reported as Emery-Dreifuss muscular dystrophy with X-linked recessive inheritance. Thus, more than one mode of inheritance is possible for this unusual and distinctive form of muscular dystrophy.
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PMID:Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. 402 62

Muscular dystrophy is a disease characterized by wasting of muscle tissue in vivo and net loss of muscle cell protein in vitro. No comparable changes have been reported in other tissues, although all cells of affected individuals must carry the X-linked recessive mutation. On the hypothesis that predisposition to accelerated protein degradation might be latent in nonmuscle cells I investigated protein metabolism in skin fibroblasts from normal individuals and patients with Duchenne and Becker dystrophy. Under normal culture conditions rates of protein synthesis and protein degradation in the two groups of cultures were indistinguishable. Both types of cells responded to treatments that stimulate protein degradation and the extent of response was similar. Treatment with ouabain to reduce cell K+ content, and hence protein synthesis, had no effect on protein degradation in either group. Synthesis of protein was reproducibly more sensitive to ouabain in dystrophic than in normal strains, however, and the rate of protein synthesis was correlated with the steady-state K+ content. Eight out of nine dystrophic strains showed a greater sensitivity of K+ content to ouabain inhibition of the membrane Na+-K+ pump than four normal strains. This increased sensitivity could be conclusively attributed to increased efflux or decreased influx of K+, or to alterations in ouabain binding to intact cells. Others have observed membrane abnormalities in dystrophic muscle as well as in other cell types. Our findings may represent a physiological consequence of that abnormality.
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PMID:Increased ouabain sensitivity of cultured human fibroblasts from muscular dystrophy. 609 71

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


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