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

We report on a patient with myotonic muscular dystrophy in whom mitral valve prolapse associated with prolonged PR interval and left anterior hemiblock was documented 3 years before any clinical evidence of myotonia, muscle weakness or wasting. One year after diagnosis had been established, he developed atrial flutter with 1:1 atrioventricular conduction, an arrhythmia that in addition to complete heart block and ventricular arrhythmias may account for the occurrence of syncope and sudden death in this group of patients.
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PMID:Unusual cardiac manifestations in a patient with myotonic muscular dystrophy. 372 33

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

The authors report 14 cases of late post-poliomyelitis muscular atrophies. The atrophy appears many years after the acute episode of anterior poliomyelitis. Several types of disorders were observed: extension of weakness and wasting; chronic spinal amyotrophy; amyotrophic lateral sclerosis without bulbar atrophy, coincidental muscular dystrophy. These cases have been interpreted in different ways. Further studies are necessary.
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PMID:[Late post-poliomyelitic muscular atrophy. Apropos of 14 cases]. 632 Apr 38

In muscular dystrophy and metabolic myopathy there is wasting and replacement of the muscle bulk with fat and fibrous tissue. A method for estimating the fat content of muscle and the cross-sectional area from computerised tomography (CT) scans is presented. Data from the quadriceps muscle of fifty patients show the effect of fat replacement on muscle strength. The CT scans have shown that the pattern of wasting in individual muscle groups is characteristic of the type of myopathy. In Duchenne muscular dystrophy, hypertrophic and pseudohypertrophic muscle have hitherto been indistinguishable, but this method allows a clear distinction to be made. Quantitative CT offers a new approach to the investigation of muscle diseases and can also be of considerable value in selecting sites for needle biopsy of muscle.
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PMID:Investigation of human skeletal muscle structure and composition by X-ray computerised tomography. 641 64

Two members of a family are described with muscle weakness and wasting affecting distal muscles of the lower limbs and muscles of the shoulder girdles. An autosomal dominant mode of inheritance is suggested with involvement of a 39-year-old female and her 15-year-old daughter. The disease in the mother has taken a relatively benign course with slow progression while the daughter has a short history of mild weakness. In both, the symptoms in the legs developed first, with foot-drop and a gait disturbance, and shoulder girdle weakness developed at a later stage. The facial muscles were mildly affected in the mother only. Results of electromyography and muscle biopsy in both these cases support a diagnosis of muscular dystrophy. The scapuloperoneal pattern of muscle involvement occurs in a number of pathological and genetic entities. The differential diagnosis includes scapuloperoneal syndrome with distal sensory loss in the limbs (Davidenkow's syndrome). The nosology of this disorder is discussed in relation to the cases presented.
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PMID:Scapuloperoneal myopathy. 656 38

Three patients who presented with weakness and wasting of the quadriceps muscles ('quadriceps myopathy'), are reported. In each, electrophysiological and biopsy studies revealed completely different pathological processes, including motor unit disease, polymyositis and muscular dystrophy. Double biopsies performed in 2 of the patients showed the disease process to involve upper as well as lower limbs. The diffuse and heterogeneous nature of this form of neuromuscular disease is confirmed.
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PMID:The spectrum of disease in weakness and wasting of the quadriceps muscles. Case reports. 705 12

An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65. Dysphagia and dysarthria occurred soon thereafter. At age 78, impairment of gait developed and progressive wasting occurred in the limbs with an initial distal distribution. Electromyography of several limb muscles displayed a mixed myopathic and neurogenic pattern with giant potentials. Examination at autopsy revealed slight loss of neurons in the anterior horns of the spinal cord, with scanty ghost cells, neuronophagia, and central chromatolysis. By light microscopy the limb muscles showed moderate small-group atrophy with severe myopathy and target fibers. The viscerocranial muscles, including the ocular, vocal, and tongue muscles, demonstrated only myopathic change with the typical features of progressive muscular dystrophy. Advanced replacement by fibrous connective tissue and fat had occurred in both the viscerocranial and the lower limb muscles. The significance of neurogenic involvement in OPMD is discussed.
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PMID:An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. 725 32

In muscular dystrophy there is an imbalance between muscle protein synthesis and protein degradation, resulting in net muscle catabolism and progressive muscle weakness and wasting. Both insulin and insulin-like growth factor I (IGF-I) are known to have an anabolic effect on skeletal muscle, which is believed to be enhanced in the presence of elevated concentrations of amino acids. We examined the effects of 4-week administration of recombinant human IGF-I (rhIGF-I), both alone and supplemented with a high protein diet (HPD), on muscle metabolism, morphology, and function in the 129 ReJ dystrophic mouse. rhIGF-I significantly reduced muscle protein degradation (P < 0.001), increased muscle protein content (P < 0.05), decreased fiber area variability (P < 0.01), and increased hind limb utilization (P < 0.01). Supplementation of rhIGF-I therapy with a HPD resulted in a significant increase in muscle protein synthesis (P < 0.05) in addition to a further increase in the above parameters. We conclude that rhIGF-I causes an improvement in muscle metabolism, morphology, and function in dystrophic mice, and this effect is further enhanced by the presence of a HPD.
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PMID:Effect of insulin-like growth factor I in murine muscular dystrophy. 758 20

The case of a 53-year-old patient with scapulo-humero-peroneal wasting, early flexion contractures of the elbows and ankles, abnormal cardiac conduction and probable X-related heredity is reported. Histology was suggestive of a primary and very slowly progressive muscular disorder. CT scan revealed fatty muscle degeneration which was more extensive than suggested by clinical findings. Electrophysiological studies revealed right atrial paralysis, left atrial tachycardia and supra and, above all, infra-His block. Sustained episodes of ventricular tachycardia, an anomaly described only rarely in pathology of this type, occurred some time after the fitting of a permanent pacemaker. The originality of this case of Emery-Dreifuss progressive muscular dystrophy lies in the usefulness of muscle CT scan and the existence of life-threatening arrhythmias.
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PMID:[Emery-Dreifuss muscular dystrophy with major conduction disorders and cardiac excitability]. 811 51

During the past year significant progress has been made in understanding how dystrophin deficiency leads to muscle cell necrosis in Duchenne muscular dystrophy and Becker muscular dystrophy. Dystrophin interacts with a glycoprotein complex spanning the muscle sarcolemma, effectively linking the actin cytoskeleton to the extracellular matrix. The carboxyl terminus of dystrophin is required for glycoprotein binding. Interestingly, at least three mRNAs transcribed from the distal end of the DMD gene in tissues other than muscle have been shown to encode this domain. Deficiency of a second component of the dystrophin-associated glycoprotein complex has been shown to occur in another muscle-wasting disorder, severe childhood autosomal recessive muscular dystrophy. Sequence analysis of the entire cDNA for the autosomal dystrophin-related protein utrophin has shown that dystrophin and utrophin are closely related. Furthermore, both of these proteins have been shown to bind to the same or a similar glycoprotein complex in muscle.
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PMID:Dystrophin and related proteins. 835 25


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