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)

In skeletal muscle isoenzymes of CK were determined by immunprecipitation and chromatography. The activity of CK-MB was between 17 and 47 U/g muscle, corresponding to a quota between 2,1 and 4,2% of the total activity. In sera of patients with muscular dystrophy, polymyositis, hypothyroidism, after arterial embolism, epilepsy, hyperventilation, operations and polytrauma with and without injury to the thorax isoenzymes were measure by immune precipitation- and immune inhibition-test. The percentage of CK-MB in all sera was less than 6% of the total CK-activity (range: 0 to 6%). Only patients in the first day after neurosurgical operations showed a quota till to 6.5% CK-MB. In serum of patients after polytrauma without injury to the thorax the percentage of CK-MB ranged from 0-5.7% while after polytrauma with injury to the thorax and a reasonable suspicion of a damage to the myocardium this quota was between 5.1 and 23.6% of the total activity. CK-BB activity was not detectable in any cases. Therefore a disease or damage of the skeletal muscle is more probable, if the percentage of CK-MB in less than 6%, because in sera of patients with myocardial infarction in the first 48 h after beginning of the symptoms this quota of CK-MB in the most cases in more than 6%.
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PMID:[Isoenzymes of creatine kinase: distribution in the skeletal muscle and in sera of patients with muscular diseases or damages (author's transl)]. 66 Nov 51

We have developed a radioimmunoassay technique that is highly specific for measuring the MM isoenzyme of creatine kinase. The specificity of the radioimmunoassay for the BB isoenzyme was poor. In patients with treated Duchenne-type muscular dystrophy or untreated hypothyroidism, the MM isoenzyme, but not the BB isoenzyme value, was consistently above above normal. In the radioimmunoassay for the BB isoenzyme the antisera might cross react with other materials and the inactivated isoenzyme, but not with MM or MB isoenzymes.
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PMID:Radioimmunoassay for MM and BB isoenzymes of creatine kinase substantiated by clinical application. 90 16

The BIO 14.6 dystrophic hamster (DH) is a genetically determined animal model of alveolar hypoventilation (AH) that exhibits a ventilatory control pattern of compensation and then decompensation similar to that in progressive forms of muscular dystrophy and nonprogressive congenital myopathies in humans. Possible causes of AH in the DH include respiratory muscle weakness, ventilation-to-perfusion inequalities, and an inadequate drive to breathe. Histochemical and contractile abnormalities of the diaphragm, reduced lung surface area available for gas exchange, abnormal pulmonary microvascular reactivity to hypoxia, altered levels of neurochemicals, and abnormal cellular regulation of calcium are among the specific factors that may contribute to the development of AH. The potential role of hypothyroidism in the development of AH is reviewed because many hypothyroid patients exhibit AH and other ventilatory dysfunctions, hypothyroidism is present in human patients and animals with muscular dystrophy, and thyroid status is known to influence lung architecture, myocyte function, and neural activity. Additional studies linking neurohormonal signals, transcellular signal processing, and control of ventilation in the DH may help us understand the etiology of AH in human disease.
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PMID:The dystrophic hamster: an animal model of alveolar hypoventilation. 168 89

Lobulated fibers have been observed in biopsies of 13 patients with various neuromuscular disorders including limb-girdle muscular dystrophy (3), distal myopathy (2), scapuloperoneal muscular dystrophy (2), congenital myopathy, Kugelberg-Welander syndrome, hypothyroidism, steroid myopathy, osteomalacia and systemic lupus erythematosus (on steroids). In all cases there were fibers characterised by small subsarcolemmal triangular aggregates or more diffuse collections extending into the interior of the muscle fiber. These were strongly reactive with oxidative enzymes, acid phosphatase, periodic acid-Schiff (PAS), Verhoeff-van Gieson (VVG) and also stained red with the Gomori trichrome technique. In 5 cases core-like fibers were also seen. Morphometric analysis of the NADH-tetrazolium reductase (NADH-TR) preparations in 11 cases showed atrophy of the lobulated fibers. Ultrastructural studies of lobulated fibers disclosed large peripheral mitochondrial aggregates and focal areas with Z-line streaming and disrupted myofibrils. We consider this structural change of the muscle fiber as a reflection of muscle cell disruption and suggest that they may progress from lobulated fibers to more atrophic core-like fibers.
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PMID:Lobulated fibers in neuromuscular diseases. 316 2

A 25 years old woman was admitted with a history of apparent hypertrophy of the calves, specially on the left, slight pain in the legs and difficulty in walking. Electromyography showed giant motor unit potentials with complete interference pattern. Biopsy of both gastrocnemii was performed revealing a cysticercus among inflammatory infiltrate and changes of the muscle fibers. Review of the literature disclosed 12 other reported cases. The age ranged from 10 to 35 years with a median of 25 years. Pseudohypertrophic myopathy due to cysticercosis has been found twice more common in males than in females. History of epilepsy and muscle pain occurs in about one half of the cases and muscle weakness in about one third of them. Usually there is simultaneous involvement of the upper and lower limb girdles. Myotonia is rare but subcutaneous nodules are frequently found. Our case is unique in the literature in which the pseudohypertrophy was confined to the legs and electromyography showed giant motor unit potentials. The pathogenesis of this condition is discussed and attention is called to the differential diagnosis with other pseudohypertrophic muscular conditions such as pseudohypertrophic muscular dystrophy, myotonia congenita, trichinosis, hypothyroidism, amyloidosis and glycogenosis of type I (Pompe's disease) in its juvenile form.
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PMID:[Pseudohypertrophic myopathy caused by cysticercosis. Report of a case]. 383 41

The authors begin this general review with the pseudohypertrophies due either to an underlying extramuscular process, or to a focal lesion within the muscle, or else to miscellaneous interstitial infiltrates such as those found in cysticercosis, sarcoidosis, amylosis. True hypertrophy is most often observed in the course of muscular dystrophy. It is an usual finding in myopathies, and the prominent symptom of Thomsen disease ; it is the only symptom of hypertrophia musculorum vera and masseters hypertrophy ; it is associated with a peculiar deficit in the "Hereditary Distal Myopathy with Onset in Infancy"; it is a classical symptom of some endocrine myopathies (hypothyroidism and acromegaly). Paradoxically, true hypertrophy may, though very rarely, be encountered in the course of nervous system diseases, most often of the neuritic type : sciatica, hypertrophic neuritis, progressive spinal muscular atrophy. The mechanism of this very unusual muscular reaction remains unknown.
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PMID:[Muscular hypertrophy in clinical neurology (author's transl)]. 722 56

Estimation of the enzymes CPK and LDH, with their isoenzymes, is useful in diagnosing myocardial infarction and monitoring its progress. However, increases of CPK-MB and LDH1, may be not associated with acute myocardial infarction, as in hypothyroidism, muscular dystrophy, polymyositis, malignant disease. We report a case of hypothyroidism with increased CPK-MB and LDH1. At the beginning the diagnosis was difficult because of altered electrocardiogram associated with one event of "burning" localized altered at the anterior thorax. This case illustrates that plasma enzyme activity and isoenzyme profiles should be interpreted with caution when clinical and instrumental (eco 2D) findings are not entirely associated with myocardial infarction.
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PMID:[The enzymatic and electrocardiographic changes falsely indicative of an acute myocardial infarct during hypothyroidism]. 813 81

We showed previously that thyroid antagonists and glucocorticoids partially alleviated the impaired righting ability and abnormally high levels of plasma creatine kinase activity in genetically dystrophic chicks. The goals of the present study were: (1) to ascertain whether the beneficial effects of methimazole (MMI; thyroid antagonist) on muscle function and plasma creatine kinase (CK) activity in dystrophic chickens are correlated with significant reduction in plasma triiodothyronine (T3) and thyroxine (T4); (2) to assess whether the MMI-induced thyroid changes are accompanied by increased plasma corticosterone level and/or changes in muscle glucocorticoid receptors which might account partially for the beneficial effects of MMI; and (3) to determine if plasma T3 and T4 are reduced in dexamethasone (DEX) treated dystrophic chickens which might account at least partially for the beneficial effects of DEX (a potent glucocorticoid) on avian dystrophy. The data show that beneficial effects of MMI are associated with reduced plasma levels of thyroid hormones and increased circulating levels of corticosterone. In addition, DEX actually increases plasma T3 levels. These differential effects indicate that reduced plasma thyroid hormone levels do not represent a common mechanism of beneficial drug effects in avian muscular dystrophy. On the other hand, elevated plasma glucocorticoid levels accompany the beneficial effects of both severe hypothyroidism and DEX treatment. The data also show that MMI induces down-regulation of muscle cytosolic glucocorticoid receptors which are higher than normal in dystrophic muscles.
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PMID:Differential effects of methimazole and dexamethasone in avian muscular dystrophy. 845 Jul 9

Whole blood collected on filter paper (Guthrie cards) has provided an excellent means for screening inborn errors of metabolism in neonates. Traditional biochemical methods adapted for use with this collection device have proven instrumental in the detection of many congenital defects such as phenylketonuria, galactosemia, hypothyroidism and hemoglobinopathies. The advent of molecular techniques, specifically polymerase chain reaction (PCR), has resulted in unparalleled advances in diagnostic sensitivity. Because of its ability to amplify small quantities of deoxyribonucleic acid (DNA), PCR has proven particularly successful for use with Guthrie card bloodspots in the identification of many genetic disorders including cystic fibrosis, sickle cell anemia and muscular dystrophy. Furthermore, it has been suggested that Guthrie cards represent a vast archive of genomic material yet to be explored. In this article we review our experience using Guthrie card bloodspots for PCR amplification of the cystic fibrosis gene, describe the advantages and limitations of this technology and speculate on future prospects for molecular diagnostics over the next 100 years.
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PMID:Cystic fibrosis: molecular approaches to diagnosis. 984 5

Storage disorders and neuromuscular disorders may lead to cardiac involvement which can be visualized by echocardiography. In storage disorders like hypothyroidism, haemochromatosis, amyloidosis, mucopolysaccharidosis and Fabry's disease, myocardial thickening and systolic dysfunction can be found. In amyloidosis, atrial enlargement and abnormal texture of the myocardium are additional findings. In advanced haemochromatosis all cardiac chambers may be dilated. In hypothyroidism and amyloidosis, a pericardial effusion can be present. In haemochromatosis and amyloidosis, a restrictive filling pattern may be detected using Doppler-sonography. Mucopolysaccharidosis and Gaucher's disease may lead to aortic and mitral stenosis. In neuromuscular disorders like glycogenosis, mitochondriopathy and myotonic dystrophy, myocardial thickening and systolic dysfunction are found, in spinal muscular atrophy myocardial thickening and in muscular dystrophy Becker/Duchenne systolic dysfunction. An abnormal myocardial texture may be present in glycogenosis, isolated left ventricular abnormal trabeculation (ILVAT) in mitochondriopathy, myotonic dystrophy and muscular dystrophy Becker/Duchenne. Using Doppler-sonography an impaired relaxation of the left ventricle may be detected in mitochondriopathy, myotonic dystrophy and spinal muscular atrophy. Most of these echocardiographic findings are unspecific and may be overlooked, especially if the storage or neuromuscular disorder is yet unknown. Establishing a correct diagnosis is important, since healing or functional improvement is possible in many of these disorders.
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PMID:[Echocardiography in storage and neuromuscular disorders]. 1146 86


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