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At least 1,153 records · Page 64Linked to original sources
PubMed1977

[Human myopathy and animal muscular dystrophy].

Two hereditary muscular dystrophies similar to human progressive muscular dystrophy (P.M.D. Duchenne type) have been isolated in animals, one in mouse, the other in chicken. The decrease in the activity of glycogenolytic enzymes is similar to that observed in denervated muscle. Isozymic fetal types for several muscular enzymes have been observed as well in chicken as in man, but this fetal type may also be found in neurogenic atrophy. The release in circulation of muscle enzymes seems more specific. But the origin of the genetic lesion is still unknown. We describe here the three different theories about this problem: i.e. neurogenic, vascular, or myogenic. This last theory implies a trouble of membrane permeability.

Adenosine Triphosphate↗
PubMed1984

Progression of muscular dystrophy assessed by computed tomography.

To determine whether computerised tomography (CT) offers an accurate means of following the progression of Duchenne muscular dystrophy, CT scans through the thigh and calf were done on two occasions, six months apart, for 13 boys with the disease. The results suggest that CT scans of muscles may be used as an adjunct to other methods in the accurate assessment of progression.

Child↗
PubMed1990

[A female infant of mitochondrial myopathy with findings of active necrosis and regeneration of muscle fibers].

An 8 year-old female infant with the clinical and pathological characteristics of both progressive muscular dystrophy and mitochondrial myopathy was described. Her maternal cousin had clinical and pathological findings of Duchenne muscular dystrophy (DMD). Since the patient had markedly elevated serum CK and calf muscle hypertrophy, her muscle was biopsied and she was diagnosed as having female DMD at the age of 5 years. She had generalized tonic-clonic convulsions and alternate hemiconvulsions for recent 4 years which brought her our hospital. On admission, she had mild generalized muscle atrophy and weakness predominantly in the proximal limbs. The lactate and pyruvate levels in both serum and cerebrospinal fluid were elevated, but with no metabolic acidosis. Serum CK was elevated to 4464 IU/L. Brain CT and MRI showed the expanding arachnoid cyst in the left middle fossa of cranium. In the biopsied left biceps crachii muscle, in addition to numerous ragged-red fibers, there were active muscular fiber necrosis and regeneration and interstitial fibrosis similar to those seen in progressive muscular dystrophy. Biochemically, no decrease or defect in the respiratory chain enzymes was detected. On electron microscopy, a large number of fibers contained aggregates of giant mitochondria with proliferated complicated cristae. Scattered throughout were necrotic muscle fibers filled with phagocytes and regenerating fibers. This patient had the diagnostic features of mitochondrial encephalomyopathy and progressive muscular dystrophy. We supposed that the patient provided very interesting evidences to study the relationship between mitochondrial myopathy and progressive muscular dystrophy.

Child↗
PubMed1977

Urinary sodium, potassium and aldosterone in Duchenne muscular dystrophy.

Four adolescent boys with Duchenne (progressive) muscular dystrophy (DMD) of 10-11 years duration and six normal boys of similar age were studied on a metabolism ward for 22 days. Sodium and potassium intake was as follows: Period I, Na 60 mEq, K 60 mEq; Period II, Na 10, K 60; Period III, Na 10, K 95-150; Period IV, Na 60, K 60. The differences between the DMD group and the group of normal boys for sodium and potassium in serum and urine and for urinary aldosterone were not significant. These findings show that the pathologically elevated sodium-potassium ratio in skeletal muscle of patients with DMD is not due to increased aldosterone or other causes of renal wastage of potassium.

Adolescent↗
PubMedDate not supplied

[Muscular dystrophies with dystrophin glycoprotein complex deficit].

Progressive muscular dystrophies with primary or secondary dystrophin glycoprotein complex components' deficit are described. Some variants of limb--girdle and congenital muscular dystrophies as well as Duchenne/Becker muscular dystrophy belong to this group. The structure of dystrophin glycoprotein complex (DGC) which is localised within muscle sarcolemma is presented. Usefulness of the assessment of the particular DGC components is underlined and importance of the resulting prognostic as well as diagnostic implications are stressed.

Dystrophin↗
PubMed1964

THE CARDIOMYOPATHY OF MUSCULAR DYSTROPHY: REPORT OF TWO CASES WITH A REVIEW OF THE LITERATURE.

About 50% of patients with progressive muscular dystrophy have a cardiomyopathy, manifested commonly by tachycardia, but also by arrythmias, refractory congestive heart failure and sudden death. Studies from the literature report manifold but nonspecific electrocardiographic changes in 41% to 85% of patients with progressive muscular dystrophy. The principal lesion is a diffuse myocardial fibrosis with minor degenerative changes in myocardial fibres unaccompanied by significant inflammation. The heart is enlarged and has a prominent deposit of epicardial fat. The myocardium is pale, coarse, flabby and friable, often showing gross evidence of scarring. The dilated chambers often contain mural thrombus.

Arrhythmias, Cardiac↗
PubMed1999

Disease taxonomy--monogenic muscular dystrophy.

The field of the autosomal recessive progressive muscular dystrophies has clarified significantly following the recent elucidation of the genetic and molecular etiology of a number of these entities. These studies illustrate how genetics provides a rationale and objective basis for a new, refined nosology. Furthermore, whereas most of these studies point towards the pivotal role played by a number of structural proteins--all directly or indirectly associated with dystrophin--a calpain protease was shown to be involved in the Réunion-type limb girdle muscular dystrophy. This discovery raises the issue of whether these mechanisms are all part of one and the same pathway or of distinct pathophysiological pathways (structuropathy versus enzymopathy) leading to similar phenotypes. Finally, all of these diseases are considered as classical monogenic traits. Some findings suggest, however, that epistatic interactions have been overlooked and that the inheritance models could be slightly more complex. These results are discussed in light of the coming challenges of the identification of genes underlying complex multifactorial traits.

Humans↗
PubMed1984

[Correlation between the results of traditional electromyographic studies and frequency analysis of the EMG and the severity of the clinical manifestations of muscular dystrophy].

A study of 95 children with progressive muscular dystrophy showed an association between the disease severity and electromyographic changes. Both visual processing of the electromyogram and an automatic analysis were used. The latter gives the possibility to diagnose the disease and to establish its severity immediately after the study.

Action Potentials↗
PubMedDate not supplied

[Distribution of free amino acid in blood plasma and erythrocytes in Becker-Kiner muscular dystrophy].

Content of free amino acids was altered in blood plasma and erythrocytes of patients with Becker-Kiner progressive muscular dystrophy; these alterations were more distinct in blood plasma as compared with erythrocytes. Spectra of individual free amino acids were distinctly altered both in blood plasma and erythrocytes. Development of the myodystrophia process correlated with alterations in glycogen and branched-chain amino acids content. The data obtained suggest the important functions of erythrocytes in intertissue transport of free amino acids. Similarity between the alterations, observed in progressive muscular dystrophy and in other pathological states accompanied by accelerated metabolism of proteins, suggests that these impairments are among the components in the adaptation reactions to metabolic stresses.

Adolescent↗
PubMed1983

Antinuclear factor, smooth and striated muscle antibodies in Duchenne-type muscular dystrophy.

Antinuclear factors and antibodies to smooth and striated muscle were studied by the indirect immune fluorescence method in the sera of 19 children suffering from progressive muscular dystrophy. In 47% of the patients antinuclear factor positivity, in 65% anti smooth muscle antibody positivity, and in 26% antistriated muscle antibody positivity was found. Antibody to striated muscle was present in patients with serious advanced dystrophy and in patients unable to walk, while anti-smooth muscle antibody occurred in less serious cases, too. On the basis of the results, it is concluded that in genetically determined progressive muscular dystrophy a secondary autoimmune process develops owing to the degeneration of muscles as the disease progresses.

Adolescent↗